Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)
Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.
A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
Forced expiratory effort against a closed GLOTTIS.
The ENTERIC NERVOUS SYSTEM; PARASYMPATHETIC NERVOUS SYSTEM; and SYMPATHETIC NERVOUS SYSTEM taken together. Generally speaking, the autonomic nervous system regulates the internal environment during both peaceful activity and physical or emotional stress. Autonomic activity is controlled and integrated by the CENTRAL NERVOUS SYSTEM, especially the HYPOTHALAMUS and the SOLITARY NUCLEUS, which receive information relayed from VISCERAL AFFERENTS.
Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.
Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA.
A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE.
Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.
A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)
A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.
Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.
The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
A key enzyme in SPHINGOLIPIDS biosynthesis, this enzyme catalyzes the pyridoxal-5'-phosphate-dependent condensation of L-SERINE and PALMITOYL COENZYME A to 3-dehydro-D-sphinganine. The enzyme consists of two different subunits.
Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
The evacuation of food from the stomach into the duodenum.
The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.
The craniosacral division of the autonomic nervous system. The cell bodies of the parasympathetic preganglionic fibers are in brain stem nuclei and in the sacral spinal cord. They synapse in cranial autonomic ganglia or in terminal ganglia near target organs. The parasympathetic nervous system generally acts to conserve resources and restore homeostasis, often with effects reciprocal to the sympathetic nervous system.
Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris.
Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)
Agents causing contraction of the pupil of the eye. Some sources use the term miotics only for the parasympathomimetics but any drug used to induce miosis is included here.
Sweat-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.
The aperture in the iris through which light passes.
The position or attitude of the body.
Constriction of the pupil in response to light stimulation of the retina. It refers also to any reflex involving the iris, with resultant alteration of the diameter of the pupil. (Cline et al., Dictionary of Visual Science, 4th ed)
Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.
Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
The HEART and the BLOOD VESSELS by which BLOOD is pumped and circulated through the body.
A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present.
Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.
Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)
A 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the ISLETS OF LANGERHANS and adjacent to cells containing SOMATOSTATIN and GLUCAGON. Pancreatic polypeptide (PP), when administered peripherally, can suppress gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite. A lack of pancreatic polypeptide (PP) has been associated with OBESITY in rats and mice.
The motor activity of the GASTROINTESTINAL TRACT.
The process of exocrine secretion of the SWEAT GLANDS, including the aqueous sweat from the ECCRINE GLANDS and the complex viscous fluids of the APOCRINE GLANDS.
A process whereby bile is delivered from the gallbladder into the duodenum. The emptying is caused by both contraction of the gallbladder and relaxation of the sphincter mechanism at the choledochal terminus.
Clusters of neurons and their processes in the autonomic nervous system. In the autonomic ganglia, the preganglionic fibers from the central nervous system synapse onto the neurons whose axons are the postganglionic fibers innervating target organs. The ganglia also contain intrinsic neurons and supporting cells and preganglionic fibers passing through to other ganglia.
Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.
A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS.
The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.
Nerve fibers which project from cell bodies of AUTONOMIC GANGLIA to SYNAPSES on target organs.
PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
A vasodilator that is administered by inhalation. It is also used recreationally due to its supposed ability to induce euphoria and act as an aphrodisiac.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
The thoracolumbar division of the autonomic nervous system. Sympathetic preganglionic fibers originate in neurons of the intermediolateral column of the spinal cord and project to the paravertebral and prevertebral ganglia, which in turn project to target organs. The sympathetic nervous system mediates the body's response to stressful situations, i.e., the fight or flight reactions. It often acts reciprocally to the parasympathetic system.
Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.
Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY.
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
The hollow, muscular organ that maintains the circulation of the blood.
KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
An involuntary movement or exercise of function in a part, excited in response to a stimulus applied to the periphery and transmitted to the brain or spinal cord.
The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.
Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.
Passage of food (sometimes in the form of a test meal) through the gastrointestinal tract as measured in minutes or hours. The rate of passage through the intestine is an indicator of small bowel function.
A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)
The act of breathing with the LUNGS, consisting of INHALATION, or the taking into the lungs of the ambient air, and of EXHALATION, or the expelling of the modified air which contains more CARBON DIOXIDE than the air taken in (Blakiston's Gould Medical Dictionary, 4th ed.). This does not include tissue respiration (= OXYGEN CONSUMPTION) or cell respiration (= CELL RESPIRATION).
Ganglia of the sympathetic nervous system including the paravertebral and the prevertebral ganglia. Among these are the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia.
The 10th cranial nerve. The vagus is a mixed nerve which contains somatic afferents (from skin in back of the ear and the external auditory meatus), visceral afferents (from the pharynx, larynx, thorax, and abdomen), parasympathetic efferents (to the thorax and abdomen), and efferents to striated muscle (of the larynx and pharynx).
A continuing periodic change in displacement with respect to a fixed reference. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction.
The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
Pathological conditions involving the HEART including its structural and functional abnormalities.
Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh.
Minor hemoglobin components of human erythrocytes designated A1a, A1b, and A1c. Hemoglobin A1c is most important since its sugar moiety is glucose covalently bound to the terminal amino acid of the beta chain. Since normal glycohemoglobin concentrations exclude marked blood glucose fluctuations over the preceding three to four weeks, the concentration of glycosylated hemoglobin A is a more reliable index of the blood sugar average over a long period of time.
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
VASCULAR DISEASES that are associated with DIABETES MELLITUS.
Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.
Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME).
A storage reservoir for BILE secretion. Gallbladder allows the delivery of bile acids at a high concentration and in a controlled manner, via the CYSTIC DUCT to the DUODENUM, for degradation of dietary lipid.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)
Glucose in blood.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Elements of limited time intervals, contributing to particular results or situations.
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
A response by the BARORECEPTORS to increased BLOOD PRESSURE. Increased pressure stretches BLOOD VESSELS which activates the baroreceptors in the vessel walls. The net response of the CENTRAL NERVOUS SYSTEM is a reduction of central sympathetic outflow. This reduces blood pressure both by decreasing peripheral VASCULAR RESISTANCE and by lowering CARDIAC OUTPUT. Because the baroreceptors are tonically active, the baroreflex can compensate rapidly for both increases and decreases in blood pressure.
Method in which prolonged electrocardiographic recordings are made on a portable tape recorder (Holter-type system) or solid-state device ("real-time" system), while the patient undergoes normal daily activities. It is useful in the diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia.
Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate.
A nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity. The sciatic nerve, which is the main continuation of the sacral plexus, is the largest nerve in the body. It has two major branches, the TIBIAL NERVE and the PERONEAL NERVE.
Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.
Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon's canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
The act of "taking account" of an object or state of affairs. It does not imply assessment of, nor attention to the qualities or nature of the object.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Diagnosis of disease states by recording the spontaneous electrical activity of tissues or organs or by the response to stimulation of electrically excitable tissue.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Methods and procedures for the diagnosis of diseases of the nervous system, central and peripheral, or demonstration of neurologic function or dysfunction.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)
Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation.
Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
Precursor of epinephrine that is secreted by the adrenal medulla and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus. It is also found in plants and is used pharmacologically as a sympathomimetic.
Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.
Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM.
Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
A major nerve of the upper extremity. In humans, the fibers of the ulnar nerve originate in the lower cervical and upper thoracic spinal cord (usually C7 to T1), travel via the medial cord of the brachial plexus, and supply sensory and motor innervation to parts of the hand and forearm.
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Abstaining from all food.
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
A protein that accounts for more than half of the peripheral nervous system myelin protein. The extracellular domain of this protein is believed to engage in adhesive interactions and thus hold the myelin membrane compact. It can behave as a homophilic adhesion molecule through interactions with its extracellular domains. (From J Cell Biol 1994;126(4):1089-97)
Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)
A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS.
Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.
Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION.
The lateral of the two terminal branches of the sciatic nerve. The peroneal (or fibular) nerve provides motor and sensory innervation to parts of the leg and foot.
The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and sympathetic subdivisions. The somatic nervous system includes the cranial and spinal nerves and their ganglia and the peripheral sensory receptors.
Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)
Neuroglial cells of the peripheral nervous system which form the insulating myelin sheaths of peripheral axons.
The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA.
The process in which specialized SENSORY RECEPTOR CELLS transduce peripheral stimuli (physical or chemical) into NERVE IMPULSES which are then transmitted to the various sensory centers in the CENTRAL NERVOUS SYSTEM.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
MYELIN-specific proteins that play a structural or regulatory role in the genesis and maintenance of the lamellar MYELIN SHEATH structure.
The medial terminal branch of the sciatic nerve. The tibial nerve fibers originate in lumbar and sacral spinal segments (L4 to S2). They supply motor and sensory innervation to parts of the calf and foot.
Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy.
A major nerve of the upper extremity. In humans, the fibers of the median nerve originate in the lower cervical and upper thoracic spinal cord (usually C6 to T1), travel via the brachial plexus, and supply sensory and motor innervation to parts of the forearm and hand.

Autosomal dominant burning feet syndrome. (1/62)

Familial burning feet syndrome inherited as an autosomal dominant trait has been described in only one family. Due to an associated sensory neuropathy the autosomal dominant burning feet syndrome was suggested to represent a variant form of hereditary sensory and autonomic neuropathy type I (HSAN I). Clinical, histopathological, and molecular genetic studies were performed in a large German kindred with autosomal dominant burning feet syndrome. The autosomal dominant burning feet syndrome was associated with a neuropathy predominantly affecting small unmyelinated nerve fibres. Linkage to the HSAN I locus on chromosome 9q22 and to the Charcot-Marie-Tooth disease type 2B (CMT 2B) locus on chromosome 3q13-q22 was excluded. The autosomal dominant burning feet syndrome is neither allelic to HSAN I nor to CMT 2B and thus represents a distinct genetic entity.  (+info)

Pupil abnormality in amyloidosis with autonomic neuropathy. (2/62)

Darkness pupil diameters, light reflexes, and redilatation times have been recorded with infrared TV pupillometry in 12 consecutive patients with systemic amyloidosis associated with sensory motor and autonomic neuropathy. Nine of the patients had AL amyloidosis, two had familial amyloidosis associated with a transthyretin abnormality, and one was untyped. The pupils were abnormal in all 12 patients. On the basis of redilatation lag without pupillotonia, six patients had bilateral Horner's syndrome and in one of them amyloid deposits were found in a sympathetic ganglion and in the attached sympathetic chain obtained at necropsy. Four patients had bilateral tonic pupils with light-near dissociation and two had abnormally small pupils with reduced light reactions which could not be characterised. It seems that in patients with systemic amyloidosis generalised autonomic neuropathy is strongly associated with pupil abnormality as shown by tonic reactions with light-near dissociation, by redilatation lag, or by reduced size in darkness.  (+info)

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. (3/62)

Hereditary sensory neuropathy type I (HSN1) is the most common dominantly inherited degenerative disorder of sensory neurons. The gene mutation was mapped to chromosome 9 in a large Australian family, descended from an ancestor from southern England who was a convict. Dawkins et al. recently reported gene mutations in the SPTLC1 gene, in this and other families. The first description of hereditary sensory neuropathy, by Hicks, was in a family from London and Exeter. To determine if the families in the present study that have SPTLC1 mutations are related to English families with HSN1 and, possibly, to the family studied by Hicks, we performed haplotype analysis of four Australian families of English extraction, four English families, and one Austrian family. Three Australian families of English extraction and three English families (two of whom have been described elsewhere) had the 399T-->G SPTLC1 mutation, the same chromosome 9 haplotype, and the same phenotype. The Australian and English families may therefore have a common founder who, on the basis of historical information, has been determined to have lived in southern England prior to 1800. The sensorimotor neuropathy phenotype caused by the 399T-->G SPTLC1 mutation is the same as that reported by Campbell and Hoffman and, possibly, the same as that originally described by Hicks.  (+info)

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. (4/62)

It was recently demonstrated that mutations in the human SPTLC1 gene, encoding the Lcb1p subunit of serine palmitoyltransferase (SPT), cause hereditary sensory neuropathy type I . As a member of the subfamily of pyridoxal 5'-phosphate enzymes known as the alpha-oxoamine synthases, serine palmitoyltransferase catalyzes the committed step of sphingolipid synthesis. The residues that are mutated to cause hereditary sensory neuropathy type I reside in a highly conserved region of Lcb1p that is predicted to be a catalytic domain of Lcb1p on the basis of alignments with other members of the alpha-oxoamine synthase family. We found that the corresponding mutations in the LCB1 gene of Saccharomyces cerevisiae reduce serine palmitoyltransferase activity. These mutations are dominant and decrease serine palmitoyltransferase activity by 50% when the wild-type and mutant LCB1 alleles are coexpressed. We also show that serine palmitoyltransferase is an Lcb1p small middle dotLcb2p heterodimer and that the mutated Lcb1p proteins retain their ability to interact with Lcb2p. Modeling studies suggest that serine palmitoyltransferase is likely to have a single active site that lies at the Lcb1p small middle dotLcb2p interface and that the mutations in Lcb1p reside near the lysine in Lcb2p that is expected to form the Schiff's base with the pyridoxal 5'-phosphate cofactor. Furthermore, mutations in this lysine and in a histidine residue that is also predicted to be important for pyridoxal 5'-phosphate binding to Lcb2p also dominantly inactivate SPT similar to the hereditary sensory neuropathy type 1-like mutations in Lcb1p.  (+info)

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. (5/62)

Hereditary sensory neuropathy type 1 (HSN1) is a dominantly inherited degenerative disorder of the peripheral nerves. HSN1 is clinically and genetically heterogeneous. One form arises from mutations in the gene SPTLC1 encoding long-chain base 1 (LCB1), one of two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the initial step of sphingolipid synthesis. We have examined the effects of the mutations C133Y and C133W, which we have identified in two HSN1 families, on the function of SPT. Although in HSN1 lymphoblasts, the C133Y and C133W mutations do not alter the steady-state levels of LCB1 and LCB2 subunits, they result in reduced SPT activity and sphingolipid synthesis. Moreover, in a mutant Chinese hamster ovary (CHO) cell strain with defective SPT activity due to a lack of the LCB1 subunit, these mutations impair the ability of the LCB1 subunit to complement the SPT deficiency. Furthermore, the overproduction of either the LCB1C133Y or LCB1C133W subunit inhibits SPT activity in CHO cells despite the presence of wild-type LCB1. In addition, we demonstrate that in CHO cells the mutant LCB1 proteins, similar to the normal LCB1, can interact with the wild-type LCB2 subunit. These results indicate that the HSN1-associated mutations in LCB1 confer dominant negative effects on the SPT enzyme.  (+info)

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism. (6/62)

The first step in the biosynthesis of sphingolipids is the condensation of serine and palmitoyl CoA, a reaction catalyzed by serine palmitoyltransferase (SPT) to produce 3-ketodihydrosphingosine (KDS). This review focuses on recent advances in the biochemistry and molecular biology of SPT. SPT belongs to a family of pyridoxal 5'-phosphate (PLP)-dependent alpha-oxoamine synthases (POAS). Mammalian SPT is a heterodimer of 53-kDa LCB1 and 63-kDa LCB2 subunits, both of which are bound to the endoplasmic reticulum (ER) most likely with the type I topology, whereas other members of the POAS family are soluble homodimer enzymes. LCB2 appears to be unstable unless it is associated with LCB1. Potent inhibitors of SPT structurally resemble an intermediate in a probable multistep reaction mechanism for SPT. Although SPT is a housekeeping enzyme, its activity is regulated transcriptionally and post-transcriptionally, and its up-regulation is suggested to play a role in apoptosis induced by certain types of stress. Specific missense mutations in the human LCB1 gene cause hereditary sensory neuropathy type I, an autosomal dominantly inherited disease, and these mutations confer dominant-negative effects on SPT activity.  (+info)

A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. (7/62)

Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (theta) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266.  (+info)

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. (8/62)

A spontaneous autosomal recessive mutation was identified in the Sprague-Dawley rat strain with an early onset sensory neuropathy. The main clinical features of the mutation (mutilated foot, mf ), detectable shortly after birth, include ataxia, insensitivity to pain and foot ulceration. The pathological features include a severe reduction in the number of sensory ganglia and fibres. This mutant is therefore an excellent model for human hereditary sensory neuropathies. Here, we demonstrate that the mf locus maps to the distal end of rat chromosome 14, a region syntenic to human 2p13-p16 and proximal mouse 11. Sequence analysis of four candidate genes in this interval revealed a 1349G>A mutation in the chaperonin (delta) subunit 4 (Cct4) gene associated with the mf mutant. This change resulted in the substitution of a highly conserved cysteine for tyrosine at amino acid 450. Although we did not identify a mutation in the human CCT4 gene in a set of HSN patients, this result clearly demonstrates the pathological consequences of a defect in Cct4, a subunit of CCT (cytosolic chaperonin-containing t-complex peptide-1), involved in folding tubulin, actin and other cytosolic proteins. This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies.  (+info)

Diabetic neuropathies refer to a group of nerve disorders that are caused by diabetes. High blood sugar levels can injure nerves throughout the body, but diabetic neuropathies most commonly affect the nerves in the legs and feet.

There are four main types of diabetic neuropathies:

1. Peripheral neuropathy: This is the most common type of diabetic neuropathy. It affects the nerves in the legs and feet, causing symptoms such as numbness, tingling, burning, or shooting pain.
2. Autonomic neuropathy: This type of neuropathy affects the autonomic nerves, which control involuntary functions such as heart rate, blood pressure, digestion, and bladder function. Symptoms may include dizziness, fainting, digestive problems, sexual dysfunction, and difficulty regulating body temperature.
3. Proximal neuropathy: Also known as diabetic amyotrophy, this type of neuropathy affects the nerves in the hips, thighs, or buttocks, causing weakness, pain, and difficulty walking.
4. Focal neuropathy: This type of neuropathy affects a single nerve or group of nerves, causing symptoms such as weakness, numbness, or pain in the affected area. Focal neuropathies can occur anywhere in the body, but they are most common in the head, torso, and legs.

The risk of developing diabetic neuropathies increases with the duration of diabetes and poor blood sugar control. Other factors that may contribute to the development of diabetic neuropathies include genetics, age, smoking, and alcohol consumption.

The Autonomic Nervous System (ANS) is a part of the nervous system that controls involuntary actions, such as heart rate, digestion, respiratory rate, pupillary response, urination, and sexual arousal. It consists of two subdivisions: the sympathetic and parasympathetic nervous systems, which generally have opposing effects and maintain homeostasis in the body.

Autonomic Nervous System Diseases (also known as Autonomic Disorders or Autonomic Neuropathies) refer to a group of conditions that affect the functioning of the autonomic nervous system. These diseases can cause damage to the nerves that control automatic functions, leading to various symptoms and complications.

Autonomic Nervous System Diseases can be classified into two main categories:

1. Primary Autonomic Nervous System Disorders: These are conditions that primarily affect the autonomic nervous system without any underlying cause. Examples include:
* Pure Autonomic Failure (PAF): A rare disorder characterized by progressive loss of autonomic nerve function, leading to symptoms such as orthostatic hypotension, urinary retention, and constipation.
* Multiple System Atrophy (MSA): A degenerative neurological disorder that affects both the autonomic nervous system and movement coordination. Symptoms may include orthostatic hypotension, urinary incontinence, sexual dysfunction, and Parkinsonian features like stiffness and slowness of movements.
* Autonomic Neuropathy associated with Parkinson's Disease: Some individuals with Parkinson's disease develop autonomic symptoms such as orthostatic hypotension, constipation, and urinary dysfunction due to the degeneration of autonomic nerves.
2. Secondary Autonomic Nervous System Disorders: These are conditions that affect the autonomic nervous system as a result of an underlying cause or disease. Examples include:
* Diabetic Autonomic Neuropathy: A complication of diabetes mellitus that affects the autonomic nerves, leading to symptoms such as orthostatic hypotension, gastroparesis (delayed gastric emptying), and sexual dysfunction.
* Autoimmune-mediated Autonomic Neuropathies: Conditions like Guillain-Barré syndrome or autoimmune autonomic ganglionopathy can cause autonomic symptoms due to the immune system attacking the autonomic nerves.
* Infectious Autonomic Neuropathies: Certain infections, such as HIV or Lyme disease, can lead to autonomic dysfunction as a result of nerve damage.
* Toxin-induced Autonomic Neuropathy: Exposure to certain toxins, like heavy metals or organophosphate pesticides, can cause autonomic neuropathy.

Autonomic nervous system disorders can significantly impact a person's quality of life and daily functioning. Proper diagnosis and management are crucial for improving symptoms and preventing complications. Treatment options may include lifestyle modifications, medications, and in some cases, devices or surgical interventions.

Hereditary Sensory and Autonomic Neuropathies (HSANs) are a group of inherited disorders that affect the sensory and autonomic nerves. These nerves are responsible for transmitting information about senses such as touch, pain, temperature, and vibration to the brain, as well as controlling automatic functions like blood pressure, heart rate, and digestion.

HSANs are caused by genetic mutations that result in damage to the peripheral nerves. There are several types of HSANs, each with its own specific symptoms and patterns of inheritance. Some common features include:

* Loss of sensation in the hands and feet
* Pain insensitivity
* Absent or reduced reflexes
* Autonomic dysfunction, such as abnormal sweating, blood pressure regulation, and digestive problems

The severity and progression of HSANs can vary widely depending on the specific type and individual factors. Treatment is generally focused on managing symptoms and preventing complications, such as injuries from lack of pain sensation or falls due to balance problems. Early diagnosis and intervention are important for optimizing outcomes.

The Valsalva maneuver is a medical procedure that involves forced exhalation against a closed airway, typically by closing one's mouth, pinching the nose shut, and then blowing. This maneuver increases the pressure in the chest and affects the heart's filling and pumping capabilities, as well as the pressures within the ears and eyes.

It is often used during medical examinations to test for conditions such as heart murmurs or to help clear the ears during changes in air pressure (like when scuba diving or flying). It can also be used to help diagnose or monitor conditions related to the autonomic nervous system, such as orthostatic hypotension or dysautonomia.

However, it's important to perform the Valsalva maneuver correctly and under medical supervision, as improper technique or overdoing it can lead to adverse effects like increased heart rate, changes in blood pressure, or even damage to the eardrum.

The Autonomic Nervous System (ANS) is a part of the peripheral nervous system that operates largely below the level of consciousness and controls visceral functions. It is divided into two main subdivisions: the sympathetic and parasympathetic nervous systems, which generally have opposing effects and maintain homeostasis in the body.

The Sympathetic Nervous System (SNS) prepares the body for stressful or emergency situations, often referred to as the "fight or flight" response. It increases heart rate, blood pressure, respiratory rate, and metabolic rate, while also decreasing digestive activity. This response helps the body respond quickly to perceived threats.

The Parasympathetic Nervous System (PNS), on the other hand, promotes the "rest and digest" state, allowing the body to conserve energy and restore itself after the stress response has subsided. It decreases heart rate, blood pressure, and respiratory rate, while increasing digestive activity and promoting relaxation.

These two systems work together to maintain balance in the body by adjusting various functions based on internal and external demands. Disorders of the Autonomic Nervous System can lead to a variety of symptoms, such as orthostatic hypotension, gastroparesis, and cardiac arrhythmias, among others.

Peripheral Nervous System (PNS) diseases, also known as Peripheral Neuropathies, refer to conditions that affect the functioning of the peripheral nervous system, which includes all the nerves outside the brain and spinal cord. These nerves transmit signals between the central nervous system (CNS) and the rest of the body, controlling sensations, movements, and automatic functions such as heart rate and digestion.

PNS diseases can be caused by various factors, including genetics, infections, toxins, metabolic disorders, trauma, or autoimmune conditions. The symptoms of PNS diseases depend on the type and extent of nerve damage but often include:

1. Numbness, tingling, or pain in the hands and feet
2. Muscle weakness or cramps
3. Loss of reflexes
4. Decreased sensation to touch, temperature, or vibration
5. Coordination problems and difficulty with balance
6. Sexual dysfunction
7. Digestive issues, such as constipation or diarrhea
8. Dizziness or fainting due to changes in blood pressure

Examples of PNS diseases include Guillain-Barre syndrome, Charcot-Marie-Tooth disease, diabetic neuropathy, and peripheral nerve injuries. Treatment for these conditions varies depending on the underlying cause but may involve medications, physical therapy, lifestyle changes, or surgery.

Miosis is the medical term for the constriction or narrowing of the pupil of the eye. It's a normal response to close up viewing, as well as a reaction to certain drugs like opioids and pilocarpine. Conversely, dilation of the pupils is called mydriasis. Miosis can be also a symptom of certain medical conditions such as Horner's syndrome or third cranial nerve palsy.

Orthostatic hypotension is a type of low blood pressure that occurs when you stand up from a sitting or lying position. The drop in blood pressure causes a brief period of lightheadedness or dizziness, and can even cause fainting in some cases. This condition is also known as postural hypotension.

Orthostatic hypotension is caused by a rapid decrease in blood pressure when you stand up, which reduces the amount of blood that reaches your brain. Normally, when you stand up, your body compensates for this by increasing your heart rate and constricting blood vessels to maintain blood pressure. However, if these mechanisms fail or are impaired, orthostatic hypotension can occur.

Orthostatic hypotension is more common in older adults, but it can also affect younger people who have certain medical conditions or take certain medications. Some of the risk factors for orthostatic hypotension include dehydration, prolonged bed rest, pregnancy, diabetes, heart disease, Parkinson's disease, and certain neurological disorders.

If you experience symptoms of orthostatic hypotension, it is important to seek medical attention. Your healthcare provider can perform tests to determine the underlying cause of your symptoms and recommend appropriate treatment options. Treatment may include lifestyle changes, such as increasing fluid intake, avoiding alcohol and caffeine, and gradually changing positions from lying down or sitting to standing up. In some cases, medication may be necessary to manage orthostatic hypotension.

Gastroparesis is a gastrointestinal disorder that affects the stomach's normal motility, resulting in the delayed emptying of food from the stomach into the small intestine. The term "gastroparesis" literally means "stomach paralysis," although the stomach doesn't actually become paralyzed in this condition. Instead, the muscles of the stomach wall become weakened or damaged, leading to a decrease in their ability to contract and push food through the digestive tract effectively.

The causes of gastroparesis can vary, but some common reasons include diabetes (both type 1 and type 2), viral infections, surgery involving the vagus nerve (which controls stomach muscle contractions), certain medications (such as narcotics, antidepressants, and high blood pressure drugs), gastroesophageal reflux disease (GERD), scleroderma, Parkinson's disease, multiple sclerosis, and Amyloidosis.

Symptoms of gastroparesis may include nausea, vomiting, feeling full quickly after starting to eat, bloating, heartburn, abdominal pain, lack of appetite, and unintended weight loss. These symptoms can significantly impact a person's quality of life and make it difficult for them to maintain proper nutrition.

Diagnosis typically involves a thorough medical history, physical examination, and various tests such as upper endoscopy, gastric emptying studies (such as the scintigraphy scan), and manometry to assess stomach muscle function. Treatment options may include dietary modifications, medications to stimulate stomach contractions or reduce symptoms like nausea and vomiting, botulinum toxin injections, electrical stimulation of the stomach muscles, or, in severe cases, feeding tubes or surgery.

Congenital pain insensitivity, also known as congenital analgesia, is a rare genetic disorder characterized by the absence of ability to feel pain due to the malfunction or lack of functioning nociceptors - the nerve cells that transmit painful stimuli to the brain. It is typically caused by mutations in the SCN9A gene, which encodes a sodium channel necessary for the function of nociceptors.

Individuals with congenital pain insensitivity may not feel any pain from injuries or other sources of harm, and as a result, they are at risk for serious injury or even death due to lack of protective responses to painful stimuli. They may also have an increased risk of developing recurrent infections and self-mutilation behaviors.

It is important to note that while these individuals do not feel pain, they can still experience other sensory inputs such as touch, temperature, and pressure. Congenital pain insensitivity is a complex medical condition that requires careful management and monitoring by healthcare professionals.

Familial dysautonomia (FD) is a genetic disorder that affects the autonomic nervous system (ANS), which controls automatic functions such as heart rate, blood pressure, body temperature, and digestion. It is also known as Riley-Day syndrome or Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III).

FD is caused by a mutation in the IKBKAP gene, which provides instructions for making a protein that is essential for the development and function of certain nerves. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to have the disease.

The symptoms of familial dysautonomia can vary widely, but often include:

* Difficulty regulating blood pressure and heart rate, leading to fluctuations in blood pressure, dizziness, and fainting spells
* Poor temperature regulation, causing episodes of sweating or flushing
* Difficulty swallowing and poor muscle tone in the face and tongue
* Absent or reduced deep tendon reflexes
* Delayed growth and development
* Reduced sensitivity to pain and temperature changes
* Emotional lability and behavioral problems

There is no cure for familial dysautonomia, but treatment can help manage symptoms and improve quality of life. Treatment may include medications to regulate blood pressure and heart rate, physical therapy to improve muscle tone and coordination, and feeding tubes or special diets to ensure adequate nutrition.

Diabetes Mellitus, Type 1 is a chronic autoimmune disease characterized by the destruction of insulin-producing beta cells in the pancreas, leading to an absolute deficiency of insulin. This results in an inability to regulate blood glucose levels, causing hyperglycemia (high blood sugar). Type 1 diabetes typically presents in childhood or early adulthood, although it can develop at any age. It is usually managed with regular insulin injections or the use of an insulin pump, along with monitoring of blood glucose levels and adjustments to diet and physical activity. Uncontrolled type 1 diabetes can lead to serious complications such as kidney damage, nerve damage, blindness, and cardiovascular disease.

Shy-Drager syndrome (SDS) is a rare and progressive neurodegenerative disorder that affects the autonomic nervous system (ANS). The ANS controls involuntary bodily functions such as heart rate, blood pressure, sweating, digestion, and pupil dilation. SDS is also known as multiple system atrophy with orthostatic hypotension or Bradbury-Eggleston syndrome.

SDS is characterized by a combination of symptoms related to the dysfunction of the autonomic nervous system, including:

1. Orthostatic hypotension (a sudden drop in blood pressure upon standing)
2. Autonomic failure (manifesting as erectile dysfunction, urinary retention or incontinence, and gastrointestinal disturbances)
3. Parkinsonian features (tremors, rigidity, bradykinesia, and postural instability)
4. Respiratory abnormalities (breathing difficulties, especially during sleep)
5. Ocular symptoms (abnormal pupil dilation and convergence insufficiency)
6. Smooth muscle atrophy (leading to reduced bladder capacity and gastrointestinal motility issues)

The underlying cause of Shy-Drager syndrome is the degeneration of nerve cells in specific areas of the brain, particularly within the autonomic nervous system centers. The exact etiology remains unclear; however, it is believed to involve a combination of genetic and environmental factors. There is no known cure for SDS, and treatment primarily focuses on managing symptoms and improving quality of life.

The sural nerve is a purely sensory peripheral nerve in the lower leg and foot. It provides sensation to the outer ( lateral) aspect of the little toe and the adjacent side of the fourth toe, as well as a small portion of the skin on the back of the leg between the ankle and knee joints.

The sural nerve is formed by the union of branches from the tibial and common fibular nerves (branches of the sciatic nerve) in the lower leg. It runs down the calf, behind the lateral malleolus (the bony prominence on the outside of the ankle), and into the foot.

The sural nerve is often used as a donor nerve during nerve grafting procedures due to its consistent anatomy and relatively low risk for morbidity at the donor site.

A pupil disorder refers to any abnormality or condition affecting the size, shape, or reactivity of the pupils, the circular black openings in the center of the eyes through which light enters. The pupil's primary function is to regulate the amount of light that reaches the retina, adjusting its size accordingly.

There are several types of pupil disorders, including:

1. Anisocoria: A condition characterized by unequal pupil sizes in either one or both eyes. This may be caused by various factors, such as nerve damage, trauma, inflammation, or medication side effects.

2. Horner's syndrome: A neurological disorder affecting the autonomic nervous system, resulting in a smaller pupil (miosis), partial eyelid droop (ptosis), and decreased sweating (anhidrosis) on the same side of the face. It is caused by damage to the sympathetic nerve pathway.

3. Adie's tonic pupil: A condition characterized by a dilated, poorly reactive pupil due to damage to the ciliary ganglion or short ciliary nerves. This disorder usually affects one eye and may be associated with decreased deep tendon reflexes in the affected limbs.

4. Argyll Robertson pupil: A condition where the pupils are small, irregularly shaped, and do not react to light but constrict when focusing on nearby objects (accommodation). This disorder is often associated with neurosyphilis or other brainstem disorders.

5. Pupillary dilation: Abnormally dilated pupils can be a sign of various conditions, such as drug use (e.g., atropine, cocaine), brainstem injury, Adie's tonic pupil, or oculomotor nerve palsy.

6. Pupillary constriction: Abnormally constricted pupils can be a sign of various conditions, such as Horner's syndrome, Argyll Robertson pupil, drug use (e.g., opioids, pilocarpine), or oculomotor nerve palsy.

7. Light-near dissociation: A condition where the pupils do not react to light but constrict when focusing on nearby objects. This can be seen in Argyll Robertson pupil and Adie's tonic pupil.

Prompt evaluation by an ophthalmologist or neurologist is necessary for accurate diagnosis and management of these conditions.

Heart rate is the number of heartbeats per unit of time, often expressed as beats per minute (bpm). It can vary significantly depending on factors such as age, physical fitness, emotions, and overall health status. A resting heart rate between 60-100 bpm is generally considered normal for adults, but athletes and individuals with high levels of physical fitness may have a resting heart rate below 60 bpm due to their enhanced cardiovascular efficiency. Monitoring heart rate can provide valuable insights into an individual's health status, exercise intensity, and response to various treatments or interventions.

Serine C-palmitoyltransferase (SCPT) is an enzyme responsible for the rate-limiting step in the biosynthesis of sphingolipids, a type of lipid found in cell membranes. Sphingolipids play crucial roles in signal transduction and cell regulation. The enzyme catalyzes the condensation of serine and palmitoyl-CoA to form 3-ketosphinganine, which is then reduced to sphinganine and further modified to produce various sphingolipids. There are two main forms of SCPT, known as SCPT1 and SCPT2, which differ in their subcellular localization and substrate specificity. Defects in the genes encoding these enzymes can lead to serious inherited disorders affecting multiple organ systems, such as hereditary sensory neuropathy type 1 (HSAN1) and forms of ichthyosis.

Hypohidrosis is a medical condition characterized by reduced or absent sweating. It's the opposite of hyperhidrosis, which is excessive sweating. Sweating is an essential function that helps regulate body temperature through the evaporation of sweat on the skin surface. When this process is impaired due to hypohidrosis, it can lead to difficulties in maintaining a normal body temperature, especially during physical exertion or in hot environments.

Hypohidrosis may be localized, affecting only certain areas of the body, or generalized, affecting the entire body. The causes of hypohidrosis are varied and include genetic factors, nerve damage, skin disorders, dehydration, burns, or the use of certain medications. Depending on its underlying cause, hypohidrosis can be managed through appropriate treatments, such as addressing nerve damage, managing skin conditions, or adjusting medication usage.

Hereditary Sensory and Motor Neuropathy (HSMN) is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. These nerves transmit information between the brain and muscles, as well as sensations such as touch, pain, heat, and cold.

HSMN is characterized by progressive degeneration of these peripheral nerves, leading to muscle weakness, numbness, and tingling sensations, particularly in the hands and feet. The condition can also affect the autonomic nervous system, which controls involuntary functions such as heart rate, blood pressure, and digestion.

HSMN is caused by genetic mutations that are inherited from one or both parents. There are several types of HSMN, each with its own specific symptoms, severity, and pattern of inheritance. The most common form is Charcot-Marie-Tooth disease (CMT), which affects both motor and sensory nerves.

Treatment for HSMN typically focuses on managing the symptoms and preventing complications. This may include physical therapy, bracing or orthopedic surgery to support weakened muscles, pain management, and lifestyle modifications such as avoiding activities that aggravate symptoms. There is currently no cure for HSMN, but ongoing research is aimed at developing new treatments and therapies to slow or halt the progression of the disease.

Gastric emptying is the process by which the stomach empties its contents into the small intestine. In medical terms, it refers to the rate and amount of food that leaves the stomach and enters the duodenum, which is the first part of the small intestine. This process is regulated by several factors, including the volume and composition of the meal, hormonal signals, and neural mechanisms. Abnormalities in gastric emptying can lead to various gastrointestinal symptoms and disorders, such as gastroparesis, where the stomach's ability to empty food is delayed.

Neural conduction is the process by which electrical signals, known as action potentials, are transmitted along the axon of a neuron (nerve cell) to transmit information between different parts of the nervous system. This electrical impulse is generated by the movement of ions across the neuronal membrane, and it propagates down the length of the axon until it reaches the synapse, where it can then stimulate the release of neurotransmitters to communicate with other neurons or target cells. The speed of neural conduction can vary depending on factors such as the diameter of the axon, the presence of myelin sheaths (which act as insulation and allow for faster conduction), and the temperature of the environment.

The Parasympathetic Nervous System (PNS) is the part of the autonomic nervous system that primarily controls vegetative functions during rest, relaxation, and digestion. It is responsible for the body's "rest and digest" activities including decreasing heart rate, lowering blood pressure, increasing digestive activity, and stimulating sexual arousal. The PNS utilizes acetylcholine as its primary neurotransmitter and acts in opposition to the Sympathetic Nervous System (SNS), which is responsible for the "fight or flight" response.

Iritis is a medical condition that refers to the inflammation of the iris, which is the colored part of the eye. The iris controls the size of the pupil and thus regulates the amount of light that enters the eye. Iritis can cause symptoms such as eye pain, redness, photophobia (sensitivity to light), blurred vision, and headaches. It is often treated with anti-inflammatory medications and may require prompt medical attention to prevent complications such as glaucoma or vision loss. The underlying cause of iritis can vary and may include infections, autoimmune diseases, trauma, or other conditions.

Paraneoplastic syndromes of the nervous system are a group of rare disorders that occur in some individuals with cancer. These syndromes are caused by an immune system response to the cancer tumor, which can lead to the damage or destruction of nerve cells. The immune system produces antibodies and/or activated immune cells that attack the neural tissue, leading to neurological symptoms.

Paraneoplastic syndromes can affect any part of the nervous system, including the brain, spinal cord, peripheral nerves, and muscles. Symptoms vary depending on the specific syndrome and the location of the affected nerve tissue. Some common neurological symptoms include muscle weakness, numbness or tingling, seizures, memory loss, confusion, difficulty speaking or swallowing, visual disturbances, and coordination problems.

Paraneoplastic syndromes are often associated with specific types of cancer, such as small cell lung cancer, breast cancer, ovarian cancer, and lymphoma. Diagnosis can be challenging because the symptoms may precede the discovery of the underlying cancer. A combination of clinical evaluation, imaging studies, laboratory tests, and sometimes a brain biopsy may be necessary to confirm the diagnosis.

Treatment typically involves addressing the underlying cancer with surgery, chemotherapy, or radiation therapy. Immunosuppressive therapies may also be used to manage the immune response that is causing the neurological symptoms. While treatment can help alleviate symptoms and improve quality of life, paraneoplastic syndromes are often difficult to cure completely.

Miotics, also known as parasympathomimetics or cholinergic agents, are a class of medications that stimulate the parasympathetic nervous system. They work by activating muscarinic receptors, which are found in various organs throughout the body, including the eye. In the eye, miotics cause contraction of the circular muscle of the iris, resulting in pupillary constriction (miosis). This action can help to reduce intraocular pressure in patients with glaucoma.

Miotics may also have other effects on the eye, such as accommodation (focusing) and decreasing the production of aqueous humor. Some examples of miotics include pilocarpine, carbachol, and ecothiopate. It's important to note that the use of miotics can have side effects, including blurred vision, headache, and brow ache.

Sweat glands are specialized tubular structures in the skin that produce and secrete sweat, also known as perspiration. They are part of the body's thermoregulatory system, helping to maintain optimal body temperature by releasing water and heat through evaporation. There are two main types of sweat glands: eccrine and apocrine.

1. Eccrine sweat glands: These are distributed throughout the body, with a higher concentration on areas like the palms, soles, and forehead. They are responsible for producing a watery, odorless sweat that primarily helps to cool down the body through evaporation.

2. Apocrine sweat glands: These are mainly found in the axillary (armpit) region and around the anogenital area. They become active during puberty and produce a thick, milky fluid that does not have a strong odor on its own but can mix with bacteria on the skin's surface, leading to body odor.

Sweat glands are controlled by the autonomic nervous system, meaning they function involuntarily in response to various stimuli such as emotions, physical activity, or changes in environmental temperature.

A pupil, in medical terms, refers to the circular opening in the center of the iris (the colored part of the eye) that allows light to enter and reach the retina. The size of the pupil can change involuntarily in response to light intensity and emotional state, as well as voluntarily through certain eye exercises or with the use of eye drops. Pupillary reactions are important in clinical examinations as they can provide valuable information about the nervous system's functioning, particularly the brainstem and cranial nerves II and III.

Posture is the position or alignment of body parts supported by the muscles, especially the spine and head in relation to the vertebral column. It can be described as static (related to a stationary position) or dynamic (related to movement). Good posture involves training your body to stand, walk, sit, and lie in positions where the least strain is placed on supporting muscles and ligaments during movement or weight-bearing activities. Poor posture can lead to various health issues such as back pain, neck pain, headaches, and respiratory problems.

A pupillary reflex is a type of reflex that involves the constriction or dilation of the pupils in response to changes in light or near vision. It is mediated by the optic and oculomotor nerves. The pupillary reflex helps regulate the amount of light that enters the eye, improving visual acuity and protecting the retina from excessive light exposure.

In a clinical setting, the pupillary reflex is often assessed as part of a neurological examination. A normal pupillary reflex consists of both direct and consensual responses. The direct response occurs when light is shone into one eye and the pupil of that same eye constricts. The consensual response occurs when light is shone into one eye, causing the pupil of the other eye to also constrict.

Abnormalities in the pupillary reflex can indicate various neurological conditions, such as brainstem injuries or diseases affecting the optic or oculomotor nerves.

Nervous system diseases, also known as neurological disorders, refer to a group of conditions that affect the nervous system, which includes the brain, spinal cord, nerves, and muscles. These diseases can affect various functions of the body, such as movement, sensation, cognition, and behavior. They can be caused by genetics, infections, injuries, degeneration, or tumors. Examples of nervous system diseases include Alzheimer's disease, Parkinson's disease, multiple sclerosis, epilepsy, migraine, stroke, and neuroinfections like meningitis and encephalitis. The symptoms and severity of these disorders can vary widely, ranging from mild to severe and debilitating.

Familial amyloid neuropathies are a group of inherited disorders characterized by the accumulation of abnormal deposits of amyloid proteins in various tissues and organs of the body. These abnormal deposits can cause damage to nerves, leading to a peripheral neuropathy that affects sensation, movement, and organ function.

There are several types of familial amyloid neuropathies, each caused by different genetic mutations. The most common type is known as transthyretin-related hereditary amyloidosis (TTR-HA), which is caused by mutations in the TTR gene. Other types include apolipoprotein A1-related hereditary amyloidosis (APOA1-HA) and gelsolin-related amyloidosis (AGel-HA).

Symptoms of familial amyloid neuropathies can vary depending on the type and severity of the disorder. Common symptoms include:

* Numbness, tingling, or pain in the hands and feet
* Weakness or loss of muscle strength in the legs and arms
* Autonomic nervous system dysfunction, leading to problems with digestion, heart rate, blood pressure, and temperature regulation
* Carpal tunnel syndrome
* Eye abnormalities, such as vitreous opacities or retinal deposits
* Kidney disease

Familial amyloid neuropathies are typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent. Diagnosis is usually made through genetic testing and confirmation of the presence of amyloid deposits in tissue samples.

Treatment for familial amyloid neuropathies typically involves managing symptoms and slowing the progression of the disease. This may include medications to control pain, physical therapy to maintain muscle strength and mobility, and devices such as braces or wheelchairs to assist with mobility. In some cases, liver transplantation may be recommended to remove the source of the mutated transthyretin protein.

Diabetes Mellitus, Type 2 is a metabolic disorder characterized by high blood glucose (or sugar) levels resulting from the body's inability to produce sufficient amounts of insulin or effectively use the insulin it produces. This form of diabetes usually develops gradually over several years and is often associated with older age, obesity, physical inactivity, family history of diabetes, and certain ethnicities.

In Type 2 diabetes, the body's cells become resistant to insulin, meaning they don't respond properly to the hormone. As a result, the pancreas produces more insulin to help glucose enter the cells. Over time, the pancreas can't keep up with the increased demand, leading to high blood glucose levels and diabetes.

Type 2 diabetes is managed through lifestyle modifications such as weight loss, regular exercise, and a healthy diet. Medications, including insulin therapy, may also be necessary to control blood glucose levels and prevent long-term complications associated with the disease, such as heart disease, nerve damage, kidney damage, and vision loss.

The cardiovascular system, also known as the circulatory system, is a biological system responsible for pumping and transporting blood throughout the body in animals and humans. It consists of the heart, blood vessels (comprising arteries, veins, and capillaries), and blood. The main function of this system is to transport oxygen, nutrients, hormones, and cellular waste products throughout the body to maintain homeostasis and support organ function.

The heart acts as a muscular pump that contracts and relaxes to circulate blood. It has four chambers: two atria on the top and two ventricles on the bottom. The right side of the heart receives deoxygenated blood from the body, pumps it through the lungs for oxygenation, and then sends it back to the left side of the heart. The left side of the heart then pumps the oxygenated blood through the aorta and into the systemic circulation, reaching all parts of the body via a network of arteries and capillaries. Deoxygenated blood is collected by veins and returned to the right atrium, completing the cycle.

The cardiovascular system plays a crucial role in regulating temperature, pH balance, and fluid balance throughout the body. It also contributes to the immune response and wound healing processes. Dysfunctions or diseases of the cardiovascular system can lead to severe health complications, such as hypertension, coronary artery disease, heart failure, stroke, and peripheral artery disease.

Pure Autonomic Failure (PAF) is a rare neurological disorder characterized by the progressive loss of function of the autonomic nervous system, which regulates involuntary bodily functions such as heart rate, blood pressure, sweating, digestion, and bladder control. In PAF, there is no evidence of any other underlying disease or neurological condition that could explain these symptoms.

The primary feature of PAF is orthostatic hypotension, a sudden drop in blood pressure when standing up from a sitting or lying down position, which can lead to dizziness, lightheadedness, and even fainting. Other common symptoms include:

* Anhidrosis (inability to sweat) or hyperhidrosis (excessive sweating)
* Constipation or diarrhea
* Urinary incontinence or retention
* Sexual dysfunction
* Tachycardia (rapid heart rate) or bradycardia (slow heart rate)
* Difficulty regulating body temperature

The exact cause of PAF is unknown, but it is believed to be related to the degeneration of nerve cells in the autonomic nervous system. There is no cure for PAF, and treatment is focused on managing symptoms and preventing complications. This may include lifestyle changes such as increasing fluid and salt intake, wearing compression stockings, and avoiding prolonged periods of standing or sitting. Medications may also be prescribed to help regulate blood pressure, heart rate, and other autonomic functions.

Diabetes complications refer to a range of health issues that can develop as a result of poorly managed diabetes over time. These complications can affect various parts of the body and can be classified into two main categories: macrovascular and microvascular.

Macrovascular complications include:

* Cardiovascular disease (CVD): People with diabetes are at an increased risk of developing CVD, including coronary artery disease, peripheral artery disease, and stroke.
* Peripheral arterial disease (PAD): This condition affects the blood vessels that supply oxygen and nutrients to the limbs, particularly the legs. PAD can cause pain, numbness, or weakness in the legs and may increase the risk of amputation.

Microvascular complications include:

* Diabetic neuropathy: This is a type of nerve damage that can occur due to prolonged high blood sugar levels. It commonly affects the feet and legs, causing symptoms such as numbness, tingling, or pain.
* Diabetic retinopathy: This condition affects the blood vessels in the eye and can cause vision loss or blindness if left untreated.
* Diabetic nephropathy: This is a type of kidney damage that can occur due to diabetes. It can lead to kidney failure if not managed properly.

Other complications of diabetes include:

* Increased risk of infections, particularly skin and urinary tract infections.
* Slow healing of wounds, which can increase the risk of infection and amputation.
* Gum disease and other oral health problems.
* Hearing impairment.
* Sexual dysfunction.

Preventing or managing diabetes complications involves maintaining good blood sugar control, regular monitoring of blood glucose levels, following a healthy lifestyle, and receiving routine medical care.

Ischemic optic neuropathy (ION) is a medical condition that refers to the damage or death of the optic nerve due to insufficient blood supply. The optic nerve is responsible for transmitting visual information from the eye to the brain.

In ION, the blood vessels that supply the optic nerve become blocked or narrowed, leading to decreased blood flow and oxygen delivery to the nerve fibers. This results in inflammation, swelling, and ultimately, damage to the optic nerve. The damage can cause sudden, painless vision loss, often noticed upon waking up in the morning.

There are two types of ION: anterior ischemic optic neuropathy (AION) and posterior ischemic optic neuropathy (PION). AION affects the front part of the optic nerve, while PION affects the back part of the nerve. AION is further classified into arteritic and non-arteritic types, depending on whether it is caused by giant cell arteritis or not.

Risk factors for ION include age (most commonly occurring in people over 50), hypertension, diabetes, smoking, sleep apnea, and other cardiovascular diseases. Treatment options depend on the type and cause of ION and may include controlling underlying medical conditions, administering corticosteroids, or undergoing surgical procedures to improve blood flow.

Pancreatic polypeptide (PP) is a hormone that is produced and released by the pancreas, specifically by the F cells located in the islets of Langerhans. It is a small protein consisting of 36 amino acids, and it plays a role in regulating digestive functions, particularly by inhibiting pancreatic enzyme secretion and gastric acid secretion.

PP is released into the bloodstream in response to food intake, especially when nutrients such as proteins and fats are present in the stomach. It acts on the brain to produce a feeling of fullness or satiety, which helps to regulate appetite and eating behavior. Additionally, PP has been shown to have effects on glucose metabolism, insulin secretion, and energy balance.

In recent years, there has been growing interest in the potential therapeutic uses of PP for a variety of conditions, including obesity, diabetes, and gastrointestinal disorders. However, more research is needed to fully understand its mechanisms of action and clinical applications.

Gastrointestinal motility refers to the coordinated muscular contractions and relaxations that propel food, digestive enzymes, and waste products through the gastrointestinal tract. This process involves the movement of food from the mouth through the esophagus into the stomach, where it is mixed with digestive enzymes and acids to break down food particles.

The contents are then emptied into the small intestine, where nutrients are absorbed, and the remaining waste products are moved into the large intestine for further absorption of water and electrolytes and eventual elimination through the rectum and anus.

Gastrointestinal motility is controlled by a complex interplay between the autonomic nervous system, hormones, and local reflexes. Abnormalities in gastrointestinal motility can lead to various symptoms such as bloating, abdominal pain, nausea, vomiting, diarrhea, or constipation.

Sweating, also known as perspiration, is the production of sweat by the sweat glands in the skin in response to heat, physical exertion, hormonal changes, or emotional stress. Sweat is a fluid composed mainly of water, with small amounts of sodium chloride, lactate, and urea. It helps regulate body temperature by releasing heat through evaporation on the surface of the skin. Excessive sweating, known as hyperhidrosis, can be a medical condition that may require treatment.

Gallbladder emptying refers to the process by which the gallbladder releases bile into the small intestine through the bile duct. The gallbladder is a small pear-shaped organ that stores and concentrates bile, a digestive fluid produced by the liver. After eating, especially when fatty or greasy foods are consumed, the hormone cholecystokinin (CCK) is released into the bloodstream, which stimulates the contraction of the gallbladder and relaxation of the sphincter of Oddi, a muscle that controls the opening and closing of the bile duct. This allows the concentrated bile to flow from the gallbladder into the small intestine, where it helps break down fats for absorption.

Gallbladder emptying can be assessed through various diagnostic tests, such as ultrasound or cholescintigraphy (also known as a HIDA scan), which measures the rate and degree of gallbladder emptying in response to CCK stimulation. Abnormalities in gallbladder emptying can contribute to conditions such as gallstones, biliary dyskinesia, and other functional gallbladder disorders.

Autonomic ganglia are collections of neurons located outside the central nervous system (CNS) that are a part of the autonomic nervous system (ANS). The ANS is responsible for controlling various involuntary physiological functions such as heart rate, digestion, respiratory rate, pupillary response, urination, and sexual arousal.

Autonomic ganglia receive inputs from preganglionic neurons, whose cell bodies are located in the CNS, and send outputs to effector organs through postganglionic neurons. The autonomic ganglia can be divided into two main subsystems: the sympathetic and parasympathetic systems.

Sympathetic ganglia are typically located close to the spinal cord and receive inputs from preganglionic neurons whose cell bodies are located in the thoracic and lumbar regions of the spinal cord. The postganglionic neurons of the sympathetic system release noradrenaline (also known as norepinephrine) as their primary neurotransmitter, which acts on effector organs to produce a range of responses such as increasing heart rate and blood pressure, dilating pupils, and promoting glucose mobilization.

Parasympathetic ganglia are typically located closer to the target organs and receive inputs from preganglionic neurons whose cell bodies are located in the brainstem and sacral regions of the spinal cord. The postganglionic neurons of the parasympathetic system release acetylcholine as their primary neurotransmitter, which acts on effector organs to produce a range of responses such as decreasing heart rate and blood pressure, constricting pupils, and promoting digestion and urination.

Overall, autonomic ganglia play a critical role in regulating various physiological functions that are essential for maintaining homeostasis in the body.

Polyneuropathy is a medical condition that refers to the damage or dysfunction of peripheral nerves (nerves outside the brain and spinal cord) in multiple areas of the body. These nerves are responsible for transmitting sensory, motor, and autonomic signals between the central nervous system and the rest of the body.

In polyneuropathies, this communication is disrupted, leading to various symptoms depending on the type and extent of nerve damage. Commonly reported symptoms include:

1. Numbness or tingling in the hands and feet
2. Muscle weakness and cramps
3. Loss of reflexes
4. Burning or stabbing pain
5. Balance and coordination issues
6. Increased sensitivity to touch
7. Autonomic dysfunction, such as bowel, bladder, or digestive problems, and changes in blood pressure

Polyneuropathies can be caused by various factors, including diabetes, alcohol abuse, nutritional deficiencies, autoimmune disorders, infections, toxins, inherited genetic conditions, or idiopathic (unknown) causes. The treatment for polyneuropathy depends on the underlying cause and may involve managing underlying medical conditions, physical therapy, pain management, and lifestyle modifications.

Hypoaldosteronism is a medical condition characterized by decreased levels or impaired function of the hormone aldosterone, which is produced by the adrenal gland. Aldosterone plays a crucial role in regulating electrolyte and fluid balance in the body by increasing the reabsorption of sodium and excretion of potassium in the kidneys.

Hypoaldosteronism can lead to low blood pressure, muscle weakness, and an imbalance of electrolytes, particularly low serum sodium levels and high serum potassium levels. This condition can be caused by various factors, including damage to the adrenal gland, impaired production or function of aldosterone, or decreased responsiveness of the kidneys to aldosterone.

Hypoaldosteronism can be primary or secondary. Primary hypoaldosteronism is caused by a problem with the adrenal glands themselves, such as damage to the gland or a genetic disorder that affects aldosterone production. Secondary hypoaldosteronism is caused by a problem outside of the adrenal glands, such as decreased production of renin (an enzyme produced by the kidneys) or certain medications that interfere with aldosterone production or function.

Treatment for hypoaldosteronism depends on the underlying cause and may include medication to replace missing aldosterone or correct electrolyte imbalances, as well as addressing any underlying conditions contributing to the development of the condition.

Self-mutilation, also known as self-injury or self-harm, refers to the deliberate infliction of pain or damage to one's own body without the intention of committing suicide. It can take many forms, including cutting, burning, scratching, hitting, or piercing the skin. The behavior is often used as a coping mechanism to deal with emotional distress, trauma, or other psychological issues. Self-mutilation can be a sign of serious mental health concerns and should be treated as such. It's important to seek professional help if you or someone you know is engaging in self-harm behaviors.

Autonomic fibers, postganglionic, refer to the portion of the autonomic nervous system (ANS) that is responsible for the regulation of internal organs and glands. The ANS is divided into the sympathetic and parasympathetic systems, which generally have opposing effects on target organs.

Postganglionic fibers are the nerve fibers that originate from ganglia (clusters of neurons) located outside the central nervous system (CNS). These fibers transmit signals from the ganglia to effector organs such as muscles and glands. In the case of the autonomic nervous system, postganglionic fibers release neurotransmitters that act on receptors in target organs to produce physiological responses.

Sympathetic postganglionic fibers release norepinephrine (noradrenaline) as their primary neurotransmitter, which generally prepares the body for "fight or flight" responses such as increasing heart rate and blood pressure. Parasympathetic postganglionic fibers release acetylcholine as their primary neurotransmitter, which generally promotes "rest and digest" functions such as slowing heart rate and promoting digestion.

It's worth noting that there are some exceptions to this general rule, such as the sympathetic innervation of sweat glands, which releases acetylcholine as its primary neurotransmitter.

Blood pressure is the force exerted by circulating blood on the walls of the blood vessels. It is measured in millimeters of mercury (mmHg) and is given as two figures:

1. Systolic pressure: This is the pressure when the heart pushes blood out into the arteries.
2. Diastolic pressure: This is the pressure when the heart rests between beats, allowing it to fill with blood.

Normal blood pressure for adults is typically around 120/80 mmHg, although this can vary slightly depending on age, sex, and other factors. High blood pressure (hypertension) is generally considered to be a reading of 130/80 mmHg or higher, while low blood pressure (hypotension) is usually defined as a reading below 90/60 mmHg. It's important to note that blood pressure can fluctuate throughout the day and may be affected by factors such as stress, physical activity, and medication use.

Amyl nitrite is a volatile, light-colored liquid with an fruity or floral smell. It is a type of alkyl nitrite that is commonly used as a recreational drug, often inhaled for its ability to produce a brief sense of euphoria and relaxation, as well as to enhance sexual experiences.

In a medical setting, amyl nitrite has been used in the past as a vasodilator, a medication that widens blood vessels and improves circulation. It was traditionally used to treat angina pectoris, a type of chest pain caused by reduced blood flow to the heart muscle. However, its use in this context is now rare due to the availability of safer and more effective medications.

It's important to note that amyl nitrite can be dangerous if used improperly or in large quantities. It can cause a rapid and dangerous drop in blood pressure, which can lead to fainting, seizures, or even death in extreme cases. Additionally, the use of amyl nitrite can interact with certain medications, such as Viagra, and increase the risk of life-threatening side effects.

Electrocardiography (ECG or EKG) is a medical procedure that records the electrical activity of the heart. It provides a graphic representation of the electrical changes that occur during each heartbeat. The resulting tracing, called an electrocardiogram, can reveal information about the heart's rate and rhythm, as well as any damage to its cells or abnormalities in its conduction system.

During an ECG, small electrodes are placed on the skin of the chest, arms, and legs. These electrodes detect the electrical signals produced by the heart and transmit them to a machine that amplifies and records them. The procedure is non-invasive, painless, and quick, usually taking only a few minutes.

ECGs are commonly used to diagnose and monitor various heart conditions, including arrhythmias, coronary artery disease, heart attacks, and electrolyte imbalances. They can also be used to evaluate the effectiveness of certain medications or treatments.

The sympathetic nervous system (SNS) is a part of the autonomic nervous system that operates largely below the level of consciousness, and it functions to produce appropriate physiological responses to perceived danger. It's often associated with the "fight or flight" response. The SNS uses nerve impulses to stimulate target organs, causing them to speed up (e.g., increased heart rate), prepare for action, or otherwise respond to stressful situations.

The sympathetic nervous system is activated due to stressful emotional or physical situations and it prepares the body for immediate actions. It dilates the pupils, increases heart rate and blood pressure, accelerates breathing, and slows down digestion. The primary neurotransmitter involved in this system is norepinephrine (also known as noradrenaline).

Ulnar neuropathies refer to conditions that cause damage or dysfunction to the ulnar nerve, which is one of the major nerves in the arm. The ulnar nerve runs down the forearm and through the wrist to the hand, where it provides sensation to the pinky finger and half of the ring finger, as well as motor function to the muscles that control finger movements.

Ulnar neuropathies can result from various causes, including trauma, compression, entrapment, or inflammation. Common symptoms include numbness, tingling, or weakness in the hand and fingers, particularly in the pinky and ring fingers. In more severe cases, muscle wasting and loss of dexterity may occur.

There are several types of ulnar neuropathies, depending on the location and cause of the nerve damage. For example, cubital tunnel syndrome is a type of ulnar neuropathy that results from compression of the ulnar nerve at the elbow, while ulnar nerve entrapment at the wrist (also known as Guyon's canal syndrome) can also cause ulnar neuropathies. Treatment options for ulnar neuropathies may include physical therapy, medication, or surgery, depending on the severity and underlying cause of the condition.

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, primarily affecting the peripheral nerves. These are the nerves that transmit signals between the brain and spinal cord to the rest of the body. CMT affects both motor and sensory nerves, leading to muscle weakness and atrophy, as well as numbness or tingling in the hands and feet.

The disease is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is characterized by its progressive nature, meaning symptoms typically worsen over time, although the rate of progression can vary significantly among individuals.

There are several types of CMT, classified based on their genetic causes and patterns of inheritance. The two most common forms are CMT1 and CMT2:

1. CMT1: This form is caused by mutations in the genes responsible for the myelin sheath, which insulates peripheral nerves and allows for efficient signal transmission. As a result, demyelination occurs, slowing down nerve impulses and causing muscle weakness, particularly in the lower limbs. Symptoms usually begin in childhood or adolescence and include foot drop, high arches, and hammertoes.
2. CMT2: This form is caused by mutations in the genes responsible for the axons, the nerve fibers that transmit signals within peripheral nerves. As a result, axonal degeneration occurs, leading to muscle weakness and atrophy. Symptoms usually begin in early adulthood and progress more slowly than CMT1. They primarily affect the lower limbs but can also involve the hands and arms.

Diagnosis of CMT typically involves a combination of clinical evaluation, family history, nerve conduction studies, and genetic testing. While there is no cure for CMT, treatment focuses on managing symptoms and maintaining mobility and function through physical therapy, bracing, orthopedic surgery, and pain management.

Diabetes Mellitus is a chronic metabolic disorder characterized by elevated levels of glucose in the blood (hyperglycemia) due to absolute or relative deficiency in insulin secretion and/or insulin action. There are two main types: Type 1 diabetes, which results from the autoimmune destruction of pancreatic beta cells leading to insulin deficiency, and Type 2 diabetes, which is associated with insulin resistance and relative insulin deficiency.

Type 1 diabetes typically presents in childhood or young adulthood, while Type 2 diabetes tends to occur later in life, often in association with obesity and physical inactivity. Both types of diabetes can lead to long-term complications such as damage to the eyes, kidneys, nerves, and cardiovascular system if left untreated or not well controlled.

The diagnosis of diabetes is usually made based on fasting plasma glucose levels, oral glucose tolerance tests, or hemoglobin A1c (HbA1c) levels. Treatment typically involves lifestyle modifications such as diet and exercise, along with medications to lower blood glucose levels and manage associated conditions.

Hypoglycemia is a medical condition characterized by an abnormally low level of glucose (sugar) in the blood. Generally, hypoglycemia is defined as a blood glucose level below 70 mg/dL (3.9 mmol/L), although symptoms may not occur until the blood sugar level falls below 55 mg/dL (3.0 mmol/L).

Hypoglycemia can occur in people with diabetes who are taking insulin or medications that increase insulin production, as well as those with certain medical conditions such as hormone deficiencies, severe liver illnesses, or disorders of the adrenal glands. Symptoms of hypoglycemia include sweating, shaking, confusion, rapid heartbeat, and in severe cases, loss of consciousness or seizures.

Hypoglycemia is typically treated by consuming fast-acting carbohydrates such as fruit juice, candy, or glucose tablets to rapidly raise blood sugar levels. If left untreated, hypoglycemia can lead to serious complications, including brain damage and even death.

I couldn't find a medical definition specifically for "Diabetes Mellitus, Experimental." However, I can provide you with information about experimental diabetes research and its relevance to understanding the disease.

Experimental diabetes models are used in biomedical research to study the pathophysiology of diabetes mellitus and to test potential therapies or treatments. These models can be broadly categorized into two types: chemically-induced and genetically modified.

1. Chemically-induced diabetes models: These involve administering chemicals, such as alloxan or streptozotocin, to animals (commonly mice or rats) to destroy their pancreatic β-cells, which produce insulin. This results in hyperglycemia and symptoms similar to those seen in type 1 diabetes in humans.
2. Genetically modified diabetes models: These involve altering the genes of animals (commonly mice) to create a diabetes phenotype. Examples include non-obese diabetic (NOD) mice, which develop an autoimmune form of diabetes similar to human type 1 diabetes, and various strains of obese mice with insulin resistance, such as ob/ob or db/db mice, which model aspects of type 2 diabetes.

These experimental models help researchers better understand the mechanisms behind diabetes development and progression, identify new therapeutic targets, and test potential treatments before moving on to human clinical trials. However, it's essential to recognize that these models may not fully replicate all aspects of human diabetes, so findings from animal studies should be interpreted with caution.

Constipation is a condition characterized by infrequent bowel movements or difficulty in passing stools that are often hard and dry. The medical definition of constipation varies, but it is generally defined as having fewer than three bowel movements in a week. In addition to infrequent bowel movements, other symptoms of constipation can include straining during bowel movements, feeling like you haven't completely evacuated your bowels, and experiencing hard or lumpy stools.

Constipation can have many causes, including a low-fiber diet, dehydration, certain medications, lack of physical activity, and underlying medical conditions such as irritable bowel syndrome or hypothyroidism. In most cases, constipation can be treated with lifestyle changes, such as increasing fiber intake, drinking more water, and getting regular exercise. However, if constipation is severe, persistent, or accompanied by other symptoms, it's important to seek medical attention to rule out any underlying conditions that may require treatment.

In medical terms, the heart is a muscular organ located in the thoracic cavity that functions as a pump to circulate blood throughout the body. It's responsible for delivering oxygen and nutrients to the tissues and removing carbon dioxide and other wastes. The human heart is divided into four chambers: two atria on the top and two ventricles on the bottom. The right side of the heart receives deoxygenated blood from the body and pumps it to the lungs, while the left side receives oxygenated blood from the lungs and pumps it out to the rest of the body. The heart's rhythmic contractions and relaxations are regulated by a complex electrical conduction system.

Diabetic nephropathy is a kidney disease that occurs as a complication of diabetes. It is also known as diabetic kidney disease (DKD). This condition affects the ability of the kidneys to filter waste and excess fluids from the blood, leading to their accumulation in the body.

Diabetic nephropathy is caused by damage to the small blood vessels in the kidneys, which can occur over time due to high levels of glucose in the blood. This damage can lead to scarring and thickening of the kidney's filtering membranes, reducing their ability to function properly.

Symptoms of diabetic nephropathy may include proteinuria (the presence of protein in the urine), edema (swelling in the legs, ankles, or feet due to fluid retention), and hypertension (high blood pressure). Over time, if left untreated, diabetic nephropathy can progress to end-stage kidney disease, which requires dialysis or a kidney transplant.

Preventing or delaying the onset of diabetic nephropathy involves maintaining good control of blood sugar levels, keeping blood pressure under control, and making lifestyle changes such as quitting smoking, eating a healthy diet, and getting regular exercise. Regular monitoring of kidney function through urine tests and blood tests is also important for early detection and treatment of this condition.

A reflex is an automatic, involuntary and rapid response to a stimulus that occurs without conscious intention. In the context of physiology and neurology, it's a basic mechanism that involves the transmission of nerve impulses between neurons, resulting in a muscle contraction or glandular secretion.

Reflexes are important for maintaining homeostasis, protecting the body from harm, and coordinating movements. They can be tested clinically to assess the integrity of the nervous system, such as the knee-j jerk reflex, which tests the function of the L3-L4 spinal nerve roots and the sensitivity of the stretch reflex arc.

Sudden death is a term used to describe a situation where a person dies abruptly and unexpectedly, often within minutes to hours of the onset of symptoms. It is typically caused by cardiac or respiratory arrest, which can be brought on by various medical conditions such as heart disease, stroke, severe infections, drug overdose, or trauma. In some cases, the exact cause of sudden death may remain unknown even after a thorough post-mortem examination.

It is important to note that sudden death should not be confused with "sudden cardiac death," which specifically refers to deaths caused by the abrupt loss of heart function (cardiac arrest). Sudden cardiac death is often related to underlying heart conditions such as coronary artery disease, cardiomyopathy, or electrical abnormalities in the heart.

A neurological examination is a series of tests used to evaluate the functioning of the nervous system, including both the central nervous system (the brain and spinal cord) and peripheral nervous system (the nerves that extend from the brain and spinal cord to the rest of the body). It is typically performed by a healthcare professional such as a neurologist or a primary care physician with specialized training in neurology.

During a neurological examination, the healthcare provider will assess various aspects of neurological function, including:

1. Mental status: This involves evaluating a person's level of consciousness, orientation, memory, and cognitive abilities.
2. Cranial nerves: There are 12 cranial nerves that control functions such as vision, hearing, smell, taste, and movement of the face and neck. The healthcare provider will test each of these nerves to ensure they are functioning properly.
3. Motor function: This involves assessing muscle strength, tone, coordination, and reflexes. The healthcare provider may ask the person to perform certain movements or tasks to evaluate these functions.
4. Sensory function: The healthcare provider will test a person's ability to feel different types of sensations, such as touch, pain, temperature, vibration, and proprioception (the sense of where your body is in space).
5. Coordination and balance: The healthcare provider may assess a person's ability to perform coordinated movements, such as touching their finger to their nose or walking heel-to-toe.
6. Reflexes: The healthcare provider will test various reflexes throughout the body using a reflex hammer.

The results of a neurological examination can help healthcare providers diagnose and monitor conditions that affect the nervous system, such as stroke, multiple sclerosis, Parkinson's disease, or peripheral neuropathy.

Gastrointestinal transit refers to the movement of food, digestive secretions, and waste products through the gastrointestinal tract, from the mouth to the anus. This process involves several muscles and nerves that work together to propel the contents through the stomach, small intestine, large intestine, and rectum.

The transit time can vary depending on factors such as the type and amount of food consumed, hydration levels, and overall health. Abnormalities in gastrointestinal transit can lead to various conditions, including constipation, diarrhea, and malabsorption. Therefore, maintaining normal gastrointestinal transit is essential for proper digestion, nutrient absorption, and overall health.

Alcoholic neuropathy is a type of nerve damage that occurs due to excessive alcohol consumption. It's caused by the toxic effects of alcohol and its byproducts on nerves throughout the body, particularly in the peripheral nervous system. The condition typically develops over time, with symptoms becoming more severe as alcohol abuse continues.

The symptoms of alcoholic neuropathy can vary widely depending on which nerves are affected. However, common symptoms include:

1. Numbness or tingling in the arms and legs
2. Muscle weakness and cramps
3. Loss of reflexes
4. Difficulty with balance and coordination
5. Pain or burning sensations in the extremities
6. Heat intolerance
7. Bladder and bowel dysfunction
8. Sexual dysfunction

Treatment for alcoholic neuropathy typically involves addressing the underlying alcohol abuse, as well as managing symptoms with medications and physical therapy. In severe cases, hospitalization may be necessary to monitor and manage complications. It's important to note that abstaining from alcohol is the only way to prevent further nerve damage and improve symptoms over time.

Medical Definition of Respiration:

Respiration, in physiology, is the process by which an organism takes in oxygen and gives out carbon dioxide. It's also known as breathing. This process is essential for most forms of life because it provides the necessary oxygen for cellular respiration, where the cells convert biochemical energy from nutrients into adenosine triphosphate (ATP), and releases waste products, primarily carbon dioxide.

In humans and other mammals, respiration is a two-stage process:

1. Breathing (or external respiration): This involves the exchange of gases with the environment. Air enters the lungs through the mouth or nose, then passes through the pharynx, larynx, trachea, and bronchi, finally reaching the alveoli where the actual gas exchange occurs. Oxygen from the inhaled air diffuses into the blood, while carbon dioxide, a waste product of metabolism, diffuses from the blood into the alveoli to be exhaled.

2. Cellular respiration (or internal respiration): This is the process by which cells convert glucose and other nutrients into ATP, water, and carbon dioxide in the presence of oxygen. The carbon dioxide produced during this process then diffuses out of the cells and into the bloodstream to be exhaled during breathing.

In summary, respiration is a vital physiological function that enables organisms to obtain the necessary oxygen for cellular metabolism while eliminating waste products like carbon dioxide.

Sympathetic ganglia are part of the autonomic nervous system, which controls involuntary bodily functions. These ganglia are clusters of nerve cell bodies located outside the central nervous system, along the spinal cord. They serve as a relay station for signals sent from the central nervous system to the organs and glands. The sympathetic ganglia are responsible for the "fight or flight" response, releasing neurotransmitters such as norepinephrine that prepare the body for action in response to stress or danger.

The vagus nerve, also known as the 10th cranial nerve (CN X), is the longest of the cranial nerves and extends from the brainstem to the abdomen. It has both sensory and motor functions and plays a crucial role in regulating various bodily functions such as heart rate, digestion, respiratory rate, speech, and sweating, among others.

The vagus nerve is responsible for carrying sensory information from the internal organs to the brain, and it also sends motor signals from the brain to the muscles of the throat and voice box, as well as to the heart, lungs, and digestive tract. The vagus nerve helps regulate the body's involuntary responses, such as controlling heart rate and blood pressure, promoting relaxation, and reducing inflammation.

Dysfunction in the vagus nerve can lead to various medical conditions, including gastroparesis, chronic pain, and autonomic nervous system disorders. Vagus nerve stimulation (VNS) is a therapeutic intervention that involves delivering electrical impulses to the vagus nerve to treat conditions such as epilepsy, depression, and migraine headaches.

In the context of medicine and physiology, vibration refers to the mechanical oscillation of a physical body or substance with a periodic back-and-forth motion around an equilibrium point. This motion can be produced by external forces or internal processes within the body.

Vibration is often measured in terms of frequency (the number of cycles per second) and amplitude (the maximum displacement from the equilibrium position). In clinical settings, vibration perception tests are used to assess peripheral nerve function and diagnose conditions such as neuropathy.

Prolonged exposure to whole-body vibration or hand-transmitted vibration in certain occupational settings can also have adverse health effects, including hearing loss, musculoskeletal disorders, and vascular damage.

Erectile dysfunction (ED) is the inability to achieve or maintain an erection sufficient for satisfactory sexual performance. It can have physical and psychological causes, such as underlying health conditions like diabetes, heart disease, obesity, and mental health issues like stress, anxiety, and depression. ED can also be a side effect of certain medications. Treatment options include lifestyle changes, medication, counseling, and in some cases, surgery.

Albuminuria is a medical condition that refers to the presence of albumin in the urine. Albumin is a type of protein normally found in the blood, but not in the urine. When the kidneys are functioning properly, they prevent large proteins like albumin from passing through into the urine. However, when the kidneys are damaged or not working correctly, such as in nephrotic syndrome or other kidney diseases, small amounts of albumin can leak into the urine.

The amount of albumin in the urine is often measured in milligrams per liter (mg/L) or in a spot urine sample, as the albumin-to-creatinine ratio (ACR). A small amount of albumin in the urine is called microalbuminuria, while a larger amount is called macroalbuminuria or proteinuria. The presence of albuminuria can indicate kidney damage and may be a sign of underlying medical conditions such as diabetes or high blood pressure. It is important to monitor and manage albuminuria to prevent further kidney damage and potential complications.

Heart disease is a broad term for a class of diseases that involve the heart or blood vessels. It's often used to refer to conditions that include:

1. Coronary artery disease (CAD): This is the most common type of heart disease. It occurs when the arteries that supply blood to the heart become hardened and narrowed due to the buildup of cholesterol and other substances, which can lead to chest pain (angina), shortness of breath, or a heart attack.

2. Heart failure: This condition occurs when the heart is unable to pump blood efficiently to meet the body's needs. It can be caused by various conditions, including coronary artery disease, high blood pressure, and cardiomyopathy.

3. Arrhythmias: These are abnormal heart rhythms, which can be too fast, too slow, or irregular. They can lead to symptoms such as palpitations, dizziness, and fainting.

4. Valvular heart disease: This involves damage to one or more of the heart's four valves, which control blood flow through the heart. Damage can be caused by various conditions, including infection, rheumatic fever, and aging.

5. Cardiomyopathy: This is a disease of the heart muscle that makes it harder for the heart to pump blood efficiently. It can be caused by various factors, including genetics, viral infections, and drug abuse.

6. Pericardial disease: This involves inflammation or other problems with the sac surrounding the heart (pericardium). It can cause chest pain and other symptoms.

7. Congenital heart defects: These are heart conditions that are present at birth, such as a hole in the heart or abnormal blood vessels. They can range from mild to severe and may require medical intervention.

8. Heart infections: The heart can become infected by bacteria, viruses, or parasites, leading to various symptoms and complications.

It's important to note that many factors can contribute to the development of heart disease, including genetics, lifestyle choices, and certain medical conditions. Regular check-ups and a healthy lifestyle can help reduce the risk of developing heart disease.

Femoral neuropathy is a medical condition that affects the femoral nerve, which is one of the largest nerves in the body. It originates from the lumbar plexus in the lower back and supplies sensation to the front of the thigh and controls the muscles that help straighten the leg and move the knee.

Femoral neuropathy can result from various causes, including nerve compression, trauma, diabetes, tumors, or surgical injury. The symptoms of femoral neuropathy may include numbness, tingling, or weakness in the thigh, difficulty lifting the leg or walking, and decreased knee reflexes.

Diagnosis of femoral neuropathy typically involves a physical examination, medical history, and diagnostic tests such as nerve conduction studies or an MRI to identify any underlying causes. Treatment for femoral neuropathy depends on the cause but may include physical therapy, pain management, and in some cases, surgery.

Glycosylated Hemoglobin A, also known as Hemoglobin A1c or HbA1c, is a form of hemoglobin that is bound to glucose. It is formed in a non-enzymatic glycation reaction with glucose in the blood. The amount of this hemoglobin present in the blood is proportional to the average plasma glucose concentration over the previous 8-12 weeks, making it a useful indicator for monitoring long-term blood glucose control in people with diabetes mellitus.

In other words, HbA1c reflects the integrated effects of glucose regulation over time and is an important clinical marker for assessing glycemic control and risk of diabetic complications. The normal range for HbA1c in individuals without diabetes is typically less than 5.7%, while a value greater than 6.5% is indicative of diabetes.

Hereditary Optic Atrophy, Leber type (LOA) is a mitochondrial DNA-associated inherited condition that primarily affects the optic nerve and leads to vision loss. It is characterized by the degeneration of retinal ganglion cells and their axons, which make up the optic nerve. This results in bilateral, painless, and progressive visual deterioration, typically beginning in young adulthood (14-35 years).

Leber's hereditary optic atrophy is caused by mutations in the mitochondrial DNA (mtDNA) gene MT-ND4 or MT-ND6. The condition follows a maternal pattern of inheritance, meaning that it is passed down through the mother's lineage.

The onset of LOA usually occurs in one eye first, followed by the second eye within weeks to months. Central vision is initially affected, leading to blurriness and loss of visual acuity. Color vision may also be impaired. The progression of the condition generally stabilizes after a few months, but complete recovery of vision is unlikely.

Currently, there is no cure for Leber's hereditary optic atrophy. Treatment focuses on managing symptoms and providing visual rehabilitation to help affected individuals adapt to their visual impairment.

Diabetic angiopathies refer to a group of vascular complications that occur due to diabetes mellitus. Prolonged exposure to high blood sugar levels can damage the blood vessels, leading to various types of angiopathies such as:

1. Diabetic retinopathy: This is a condition where the small blood vessels in the retina get damaged due to diabetes, leading to vision loss or blindness if left untreated.
2. Diabetic nephropathy: In this condition, the kidneys' glomeruli (the filtering units) become damaged due to diabetes, leading to protein leakage and eventually kidney failure if not managed properly.
3. Diabetic neuropathy: This is a type of nerve damage caused by diabetes that can affect various parts of the body, including the legs, feet, and hands, causing numbness, tingling, or pain.
4. Diabetic cardiomyopathy: This is a condition where the heart muscle becomes damaged due to diabetes, leading to heart failure.
5. Diabetic peripheral arterial disease (PAD): In this condition, the blood vessels that supply the legs and feet become narrowed or blocked due to diabetes, leading to pain, cramping, or even gangrene in severe cases.

Overall, diabetic angiopathies are serious complications of diabetes that can significantly impact a person's quality of life and overall health. Therefore, it is crucial for individuals with diabetes to manage their blood sugar levels effectively and undergo regular check-ups to detect any early signs of these complications.

Optic nerve diseases refer to a group of conditions that affect the optic nerve, which transmits visual information from the eye to the brain. These diseases can cause various symptoms such as vision loss, decreased visual acuity, changes in color vision, and visual field defects. Examples of optic nerve diseases include optic neuritis (inflammation of the optic nerve), glaucoma (damage to the optic nerve due to high eye pressure), optic nerve damage from trauma or injury, ischemic optic neuropathy (lack of blood flow to the optic nerve), and optic nerve tumors. Treatment for optic nerve diseases varies depending on the specific condition and may include medications, surgery, or lifestyle changes.

Median neuropathy, also known as Carpal Tunnel Syndrome, is a common entrapment neuropathy caused by compression of the median nerve at the wrist level. The median nerve provides sensation to the palm side of the thumb, index finger, middle finger, and half of the ring finger. It also innervates some of the muscles that control movement of the fingers and thumb.

In median neuropathy, the compression of the median nerve can cause symptoms such as numbness, tingling, and weakness in the affected hand and fingers. These symptoms may be worse at night or upon waking up in the morning, and can be exacerbated by activities that involve repetitive motion of the wrist, such as typing or using tools. If left untreated, median neuropathy can lead to permanent nerve damage and muscle wasting in the hand.

The gallbladder is a small, pear-shaped organ located just under the liver in the right upper quadrant of the abdomen. Its primary function is to store and concentrate bile, a digestive enzyme produced by the liver, which helps in the breakdown of fats during the digestion process. When food, particularly fatty foods, enter the stomach and small intestine, the gallbladder contracts and releases bile through the common bile duct into the duodenum, the first part of the small intestine, to aid in fat digestion.

The gallbladder is made up of three main parts: the fundus, body, and neck. It has a muscular wall that allows it to contract and release bile. Gallstones, an inflammation of the gallbladder (cholecystitis), or other gallbladder diseases can cause pain, discomfort, and potentially serious health complications if left untreated.

Reference values, also known as reference ranges or reference intervals, are the set of values that are considered normal or typical for a particular population or group of people. These values are often used in laboratory tests to help interpret test results and determine whether a patient's value falls within the expected range.

The process of establishing reference values typically involves measuring a particular biomarker or parameter in a large, healthy population and then calculating the mean and standard deviation of the measurements. Based on these statistics, a range is established that includes a certain percentage of the population (often 95%) and excludes extreme outliers.

It's important to note that reference values can vary depending on factors such as age, sex, race, and other demographic characteristics. Therefore, it's essential to use reference values that are specific to the relevant population when interpreting laboratory test results. Additionally, reference values may change over time due to advances in measurement technology or changes in the population being studied.

Peripheral nerves are nerve fibers that transmit signals between the central nervous system (CNS, consisting of the brain and spinal cord) and the rest of the body. These nerves convey motor, sensory, and autonomic information, enabling us to move, feel, and respond to changes in our environment. They form a complex network that extends from the CNS to muscles, glands, skin, and internal organs, allowing for coordinated responses and functions throughout the body. Damage or injury to peripheral nerves can result in various neurological symptoms, such as numbness, weakness, or pain, depending on the type and severity of the damage.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Amyloid neuropathies are a group of peripheral nerve disorders caused by the abnormal accumulation of amyloid proteins in the nerves. Amyloid is a protein that can be produced in various diseases and can deposit in different organs, including nerves. When this occurs in the nerves, it can lead to damage and dysfunction, resulting in symptoms such as numbness, tingling, pain, and weakness in the affected limbs.

There are several types of amyloid neuropathies, with the two most common being:

1. Transthyretin (TTR)-related hereditary amyloidosis: This is an inherited disorder caused by mutations in the TTR gene, which leads to the production of abnormal TTR protein that can form amyloid deposits in various organs, including nerves.
2. Immunoglobulin light chain (AL) amyloidosis: This is a disorder in which abnormal plasma cells produce excessive amounts of immunoglobulin light chains, which can form amyloid deposits in various organs, including nerves.

The diagnosis of amyloid neuropathies typically involves a combination of clinical evaluation, nerve conduction studies, and tissue biopsy to confirm the presence of amyloid deposits. Treatment options depend on the underlying cause of the disorder and may include medications, chemotherapy, stem cell transplantation, or supportive care to manage symptoms.

Blood glucose, also known as blood sugar, is the concentration of glucose in the blood. Glucose is a simple sugar that serves as the main source of energy for the body's cells. It is carried to each cell through the bloodstream and is absorbed into the cells with the help of insulin, a hormone produced by the pancreas.

The normal range for blood glucose levels in humans is typically between 70 and 130 milligrams per deciliter (mg/dL) when fasting, and less than 180 mg/dL after meals. Levels that are consistently higher than this may indicate diabetes or other metabolic disorders.

Blood glucose levels can be measured through a variety of methods, including fingerstick blood tests, continuous glucose monitoring systems, and laboratory tests. Regular monitoring of blood glucose levels is important for people with diabetes to help manage their condition and prevent complications.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Insulin is a hormone produced by the beta cells of the pancreatic islets, primarily in response to elevated levels of glucose in the circulating blood. It plays a crucial role in regulating blood glucose levels and facilitating the uptake and utilization of glucose by peripheral tissues, such as muscle and adipose tissue, for energy production and storage. Insulin also inhibits glucose production in the liver and promotes the storage of excess glucose as glycogen or triglycerides.

Deficiency in insulin secretion or action leads to impaired glucose regulation and can result in conditions such as diabetes mellitus, characterized by chronic hyperglycemia and associated complications. Exogenous insulin is used as a replacement therapy in individuals with diabetes to help manage their blood glucose levels and prevent long-term complications.

Hereditary optic atrophies (HOAs) are a group of genetic disorders that cause degeneration of the optic nerve, leading to vision loss. The optic nerve is responsible for transmitting visual information from the eye to the brain. In HOAs, this nerve degenerates over time, resulting in decreased visual acuity, color vision deficits, and sometimes visual field defects.

There are several types of HOAs, including dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), autosomal recessive optic atrophy (AROA), and Wolfram syndrome. Each type has a different inheritance pattern and is caused by mutations in different genes.

DOA is the most common form of HOA and is characterized by progressive vision loss that typically begins in childhood or early adulthood. It is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disease-causing mutation from an affected parent.

LHON is a mitochondrial disorder that primarily affects males and is characterized by sudden, severe vision loss that typically occurs in young adulthood. It is caused by mutations in the mitochondrial DNA and is inherited maternally.

AROA is a rare form of HOA that is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to cause the disease. It typically presents in infancy or early childhood with progressive vision loss.

Wolfram syndrome is a rare genetic disorder that affects multiple organs, including the eyes, ears, and endocrine system. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and hearing loss. It is inherited in an autosomal recessive manner.

There is currently no cure for HOAs, but treatments such as low-vision aids and rehabilitation may help to manage the symptoms. Research is ongoing to develop new therapies for these disorders.

The baroreflex is a physiological mechanism that helps regulate blood pressure and heart rate in response to changes in stretch of the arterial walls. It is mediated by baroreceptors, which are specialized sensory nerve endings located in the carotid sinus and aortic arch. These receptors detect changes in blood pressure and send signals to the brainstem via the glossopharyngeal (cranial nerve IX) and vagus nerves (cranial nerve X), respectively.

In response to an increase in arterial pressure, the baroreceptors are stimulated, leading to increased firing of afferent neurons that signal the brainstem. This results in a reflexive decrease in heart rate and cardiac output, as well as vasodilation of peripheral blood vessels, which collectively work to reduce blood pressure back towards its normal level. Conversely, if arterial pressure decreases, the baroreceptors are less stimulated, leading to an increase in heart rate and cardiac output, as well as vasoconstriction of peripheral blood vessels, which helps restore blood pressure.

Overall, the baroreflex is a crucial homeostatic mechanism that helps maintain stable blood pressure and ensure adequate perfusion of vital organs.

Ambulatory electrocardiography, also known as ambulatory ECG or Holter monitoring, is a non-invasive method of recording the electrical activity of the heart over an extended period of time (typically 24 hours or more) while the patient goes about their daily activities. The device used to record the ECG is called a Holter monitor, which consists of a small, portable recorder that is attached to the patient's chest with electrodes.

The recorded data provides information on any abnormalities in the heart's rhythm or electrical activity during different stages of activity and rest, allowing healthcare providers to diagnose and evaluate various cardiac conditions such as arrhythmias, ischemia, and infarction. The ability to monitor the heart's activity over an extended period while the patient performs their normal activities provides valuable information that may not be captured during a standard ECG, which only records the heart's electrical activity for a few seconds.

In summary, ambulatory electrocardiography is a diagnostic tool used to evaluate the electrical activity of the heart over an extended period, allowing healthcare providers to diagnose and manage various cardiac conditions.

Cranial nerve diseases refer to conditions that affect the cranial nerves, which are a set of 12 pairs of nerves that originate from the brainstem and control various functions in the head and neck. These functions include vision, hearing, taste, smell, movement of the eyes and face, and sensation in the face.

Diseases of the cranial nerves can result from a variety of causes, including injury, infection, inflammation, tumors, or degenerative conditions. The specific symptoms that a person experiences will depend on which cranial nerve is affected and how severely it is damaged.

For example, damage to the optic nerve (cranial nerve II) can cause vision loss or visual disturbances, while damage to the facial nerve (cranial nerve VII) can result in weakness or paralysis of the face. Other common symptoms of cranial nerve diseases include pain, numbness, tingling, and hearing loss.

Treatment for cranial nerve diseases varies depending on the underlying cause and severity of the condition. In some cases, medication or surgery may be necessary to treat the underlying cause and relieve symptoms. Physical therapy or rehabilitation may also be recommended to help individuals regain function and improve their quality of life.

The sciatic nerve is the largest and longest nerve in the human body, running from the lower back through the buttocks and down the legs to the feet. It is formed by the union of the ventral rami (branches) of the L4 to S3 spinal nerves. The sciatic nerve provides motor and sensory innervation to various muscles and skin areas in the lower limbs, including the hamstrings, calf muscles, and the sole of the foot. Sciatic nerve disorders or injuries can result in symptoms such as pain, numbness, tingling, or weakness in the lower back, hips, legs, and feet, known as sciatica.

Cardiovascular diseases (CVDs) are a class of diseases that affect the heart and blood vessels. They are the leading cause of death globally, according to the World Health Organization (WHO). The term "cardiovascular disease" refers to a group of conditions that include:

1. Coronary artery disease (CAD): This is the most common type of heart disease and occurs when the arteries that supply blood to the heart become narrowed or blocked due to the buildup of cholesterol, fat, and other substances in the walls of the arteries. This can lead to chest pain, shortness of breath, or a heart attack.
2. Heart failure: This occurs when the heart is unable to pump blood efficiently to meet the body's needs. It can be caused by various conditions, including coronary artery disease, high blood pressure, and cardiomyopathy.
3. Stroke: A stroke occurs when the blood supply to a part of the brain is interrupted or reduced, often due to a clot or a ruptured blood vessel. This can cause brain damage or death.
4. Peripheral artery disease (PAD): This occurs when the arteries that supply blood to the limbs become narrowed or blocked, leading to pain, numbness, or weakness in the legs or arms.
5. Rheumatic heart disease: This is a complication of untreated strep throat and can cause damage to the heart valves, leading to heart failure or other complications.
6. Congenital heart defects: These are structural problems with the heart that are present at birth. They can range from mild to severe and may require medical intervention.
7. Cardiomyopathy: This is a disease of the heart muscle that makes it harder for the heart to pump blood efficiently. It can be caused by various factors, including genetics, infections, and certain medications.
8. Heart arrhythmias: These are abnormal heart rhythms that can cause the heart to beat too fast, too slow, or irregularly. They can lead to symptoms such as palpitations, dizziness, or fainting.
9. Valvular heart disease: This occurs when one or more of the heart valves become damaged or diseased, leading to problems with blood flow through the heart.
10. Aortic aneurysm and dissection: These are conditions that affect the aorta, the largest artery in the body. An aneurysm is a bulge in the aorta, while a dissection is a tear in the inner layer of the aorta. Both can be life-threatening if not treated promptly.

It's important to note that many of these conditions can be managed or treated with medical interventions such as medications, surgery, or lifestyle changes. If you have any concerns about your heart health, it's important to speak with a healthcare provider.

Diarrhea is a condition in which an individual experiences loose, watery stools frequently, often exceeding three times a day. It can be acute, lasting for several days, or chronic, persisting for weeks or even months. Diarrhea can result from various factors, including viral, bacterial, or parasitic infections, food intolerances, medications, and underlying medical conditions such as inflammatory bowel disease or irritable bowel syndrome. Dehydration is a potential complication of diarrhea, particularly in severe cases or in vulnerable populations like young children and the elderly.

Ulnar nerve compression syndromes refer to a group of conditions characterized by the entrapment or compression of the ulnar nerve, leading to various symptoms. The ulnar nerve provides motor function to the hand muscles and sensation to the little finger and half of the ring finger.

There are several sites along the course of the ulnar nerve where it can become compressed, resulting in different types of ulnar nerve compression syndromes:

1. Cubital Tunnel Syndrome: This occurs when the ulnar nerve is compressed at the elbow, within the cubital tunnel - a narrow passage located on the inner side of the elbow. Symptoms may include numbness and tingling in the little finger and half of the ring finger, weakness in gripping or pinching, and pain or discomfort in the elbow.

2. Guyon's Canal Syndrome: This type of ulnar nerve compression syndrome happens when the nerve is compressed at the wrist, within the Guyon's canal. Causes can include ganglion cysts, bone fractures, or repetitive motion injuries. Symptoms may include numbness and tingling in the little finger and half of the ring finger, weakness or paralysis in the hand muscles, and muscle wasting in severe cases.

Treatment for ulnar nerve compression syndromes depends on the severity and location of the compression. Conservative treatments such as physical therapy, bracing, or anti-inflammatory medications may be recommended for milder cases. Severe or persistent symptoms may require surgical intervention to relieve the pressure on the ulnar nerve.

Prevalence, in medical terms, refers to the total number of people in a given population who have a particular disease or condition at a specific point in time, or over a specified period. It is typically expressed as a percentage or a ratio of the number of cases to the size of the population. Prevalence differs from incidence, which measures the number of new cases that develop during a certain period.

In a medical context, awareness generally refers to the state of being conscious or cognizant of something. This can include being aware of one's own thoughts, feelings, and experiences, as well as being aware of external events or sensations.

For example, a person who is awake and alert is said to have full awareness, while someone who is in a coma or under general anesthesia may be described as having reduced or absent awareness. Similarly, a person with dementia or Alzheimer's disease may have impaired awareness of their surroundings or of their own memory and cognitive abilities.

In some cases, awareness may also refer to the process of becoming informed or educated about a particular health condition or medical treatment. For example, a patient may be encouraged to increase their awareness of heart disease risk factors or of the potential side effects of a medication. Overall, awareness involves a deep understanding and perception of oneself and one's environment.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

Electrodiagnosis, also known as electromyography (EMG), is a medical diagnostic procedure that evaluates the health and function of muscles and nerves. It measures the electrical activity of skeletal muscles at rest and during contraction, as well as the conduction of electrical signals along nerves.

The test involves inserting a thin needle electrode into the muscle to record its electrical activity. The physician will ask the patient to contract and relax the muscle while the electrical activity is recorded. The resulting data can help diagnose various neuromuscular disorders, such as nerve damage or muscle diseases, by identifying abnormalities in the electrical signals.

Electrodiagnosis can be used to diagnose conditions such as carpal tunnel syndrome, peripheral neuropathy, muscular dystrophy, and amyotrophic lateral sclerosis (ALS), among others. It is a valuable tool in the diagnosis and management of neuromuscular disorders, helping physicians to develop appropriate treatment plans for their patients.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

Demyelinating diseases are a group of disorders that are characterized by damage to the myelin sheath, which is the protective covering surrounding nerve fibers in the brain, optic nerves, and spinal cord. Myelin is essential for the rapid transmission of nerve impulses, and its damage results in disrupted communication between the brain and other parts of the body.

The most common demyelinating disease is multiple sclerosis (MS), where the immune system mistakenly attacks the myelin sheath. Other demyelinating diseases include:

1. Acute Disseminated Encephalomyelitis (ADEM): An autoimmune disorder that typically follows a viral infection or vaccination, causing widespread inflammation and demyelination in the brain and spinal cord.
2. Neuromyelitis Optica (NMO) or Devic's Disease: A rare autoimmune disorder that primarily affects the optic nerves and spinal cord, leading to severe vision loss and motor disability.
3. Transverse Myelitis: Inflammation of the spinal cord causing damage to both sides of one level (segment) of the spinal cord, resulting in various neurological symptoms such as muscle weakness, numbness, or pain, depending on which part of the spinal cord is affected.
4. Guillain-Barré Syndrome: An autoimmune disorder that causes rapid-onset muscle weakness, often beginning in the legs and spreading to the upper body, including the face and breathing muscles. It occurs when the immune system attacks the peripheral nerves' myelin sheath.
5. Central Pontine Myelinolysis (CPM): A rare neurological disorder caused by rapid shifts in sodium levels in the blood, leading to damage to the myelin sheath in a specific area of the brainstem called the pons.

These diseases can result in various symptoms, such as muscle weakness, numbness, vision loss, difficulty with balance and coordination, and cognitive impairment, depending on the location and extent of the demyelination. Treatment typically focuses on managing symptoms, modifying the immune system's response, and promoting nerve regeneration and remyelination when possible.

Follow-up studies are a type of longitudinal research that involve repeated observations or measurements of the same variables over a period of time, in order to understand their long-term effects or outcomes. In medical context, follow-up studies are often used to evaluate the safety and efficacy of medical treatments, interventions, or procedures.

In a typical follow-up study, a group of individuals (called a cohort) who have received a particular treatment or intervention are identified and then followed over time through periodic assessments or data collection. The data collected may include information on clinical outcomes, adverse events, changes in symptoms or functional status, and other relevant measures.

The results of follow-up studies can provide important insights into the long-term benefits and risks of medical interventions, as well as help to identify factors that may influence treatment effectiveness or patient outcomes. However, it is important to note that follow-up studies can be subject to various biases and limitations, such as loss to follow-up, recall bias, and changes in clinical practice over time, which must be carefully considered when interpreting the results.

Neurological diagnostic techniques are medical tests and examinations used to identify and diagnose conditions related to the nervous system, which includes the brain, spinal cord, nerves, and muscles. These techniques can be divided into several categories:

1. Clinical Examination: A thorough physical examination, including a neurological evaluation, is often the first step in diagnosing neurological conditions. This may involve assessing a person's mental status, muscle strength, coordination, reflexes, sensation, and gait.

2. Imaging Techniques: These are used to produce detailed images of the brain and nervous system. Common imaging techniques include:

- Computed Tomography (CT): This uses X-rays to create cross-sectional images of the brain and other parts of the body.
- Magnetic Resonance Imaging (MRI): This uses a strong magnetic field and radio waves to produce detailed images of the brain and other internal structures.
- Functional MRI (fMRI): This is a type of MRI that measures brain activity by detecting changes in blood flow.
- Positron Emission Tomography (PET): This uses small amounts of radioactive material to produce detailed images of brain function.
- Single Photon Emission Computed Tomography (SPECT): This is a type of nuclear medicine imaging that uses a gamma camera and a computer to produce detailed images of brain function.

3. Electrophysiological Tests: These are used to measure the electrical activity of the brain and nervous system. Common electrophysiological tests include:

- Electroencephalography (EEG): This measures the electrical activity of the brain.
- Evoked Potentials (EPs): These measure the electrical response of the brain and nervous system to sensory stimuli, such as sound or light.
- Nerve Conduction Studies (NCS): These measure the speed and strength of nerve impulses.
- Electromyography (EMG): This measures the electrical activity of muscles.

4. Laboratory Tests: These are used to analyze blood, cerebrospinal fluid, and other bodily fluids for signs of neurological conditions. Common laboratory tests include:

- Complete Blood Count (CBC): This measures the number and type of white and red blood cells in the body.
- Blood Chemistry Tests: These measure the levels of various chemicals in the blood.
- Lumbar Puncture (Spinal Tap): This is used to collect cerebrospinal fluid for analysis.
- Genetic Testing: This is used to identify genetic mutations associated with neurological conditions.

5. Imaging Studies: These are used to produce detailed images of the brain and nervous system. Common imaging studies include:

- Magnetic Resonance Imaging (MRI): This uses a strong magnetic field and radio waves to produce detailed images of the brain and nervous system.
- Computed Tomography (CT): This uses X-rays to produce detailed images of the brain and nervous system.
- Functional MRI (fMRI): This measures changes in blood flow in the brain during cognitive tasks.
- Diffusion Tensor Imaging (DTI): This is used to assess white matter integrity in the brain.
- Magnetic Resonance Spectroscopy (MRS): This is used to measure chemical levels in the brain.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

Peroneal neuropathies refer to conditions that cause damage or dysfunction to the peroneal nerve, which is a branch of the sciatic nerve. The peroneal nerve runs down the back of the leg and wraps around the fibula bone (the smaller of the two bones in the lower leg) before dividing into two branches that innervate the muscles and skin on the front and side of the lower leg and foot.

Peroneal neuropathies can cause various symptoms, including weakness or paralysis of the ankle and toe muscles, numbness or tingling in the top of the foot and along the outside of the lower leg, and difficulty lifting the foot (known as "foot drop"). These conditions can result from trauma, compression, diabetes, or other underlying medical conditions. Treatment for peroneal neuropathies may include physical therapy, bracing, medications to manage pain, and in some cases, surgery.

Paresthesia is a medical term that describes an abnormal sensation such as tingling, numbness, prickling, or burning, usually in the hands, feet, arms, or legs. These sensations can occur without any obvious cause, often described as "pins and needles" or falling asleep in a limb. However, persistent paresthesia can be a sign of an underlying medical condition, such as nerve damage, diabetes, multiple sclerosis, or a vitamin deficiency. It is important to consult with a healthcare professional if experiencing persistent paresthesia to determine the cause and appropriate treatment.

Sensation disorders are conditions that affect the nervous system's ability to receive and interpret sensory information from the environment. These disorders can affect any of the five senses, including sight, hearing, touch, taste, and smell. They can result in symptoms such as numbness, tingling, pain, or loss of sensation in various parts of the body.

Some common types of sensation disorders include:

1. Neuropathy: A disorder that affects the nerves, often causing numbness, tingling, or pain in the hands and feet.
2. Central pain syndrome: A condition that results from damage to the brain or spinal cord, leading to chronic pain.
3. Tinnitus: A ringing or buzzing sound in the ears that can be a symptom of an underlying hearing disorder.
4. Ageusia: The loss of taste sensation, often caused by damage to the tongue or nerves that transmit taste information to the brain.
5. Anosmia: The loss of smell sensation, which can result from a variety of causes including injury, infection, or neurological disorders.

Sensation disorders can have significant impacts on a person's quality of life and ability to perform daily activities. Treatment may involve medication, physical therapy, or other interventions aimed at addressing the underlying cause of the disorder.

Norepinephrine, also known as noradrenaline, is a neurotransmitter and a hormone that is primarily produced in the adrenal glands and is released into the bloodstream in response to stress or physical activity. It plays a crucial role in the "fight-or-flight" response by preparing the body for action through increasing heart rate, blood pressure, respiratory rate, and glucose availability.

As a neurotransmitter, norepinephrine is involved in regulating various functions of the nervous system, including attention, perception, motivation, and arousal. It also plays a role in modulating pain perception and responding to stressful or emotional situations.

In medical settings, norepinephrine is used as a vasopressor medication to treat hypotension (low blood pressure) that can occur during septic shock, anesthesia, or other critical illnesses. It works by constricting blood vessels and increasing heart rate, which helps to improve blood pressure and perfusion of vital organs.

Central hearing loss is a type of hearing disorder that occurs due to damage or dysfunction in the central auditory pathways of the brain, rather than in the ear itself. This condition can result from various causes, such as stroke, tumors, trauma, infection, or degenerative diseases affecting the brain.

In central hearing loss, the person may have difficulty understanding and processing speech, even when they can hear sounds at normal levels. They might experience problems with sound localization, discriminating between similar sounds, and comprehending complex auditory signals. This type of hearing loss is different from sensorineural or conductive hearing loss, which are related to issues in the outer, middle, or inner ear.

Nerve fibers are specialized structures that constitute the long, slender processes (axons) of neurons (nerve cells). They are responsible for conducting electrical impulses, known as action potentials, away from the cell body and transmitting them to other neurons or effector organs such as muscles and glands. Nerve fibers are often surrounded by supportive cells called glial cells and are grouped together to form nerve bundles or nerves. These fibers can be myelinated (covered with a fatty insulating sheath called myelin) or unmyelinated, which influences the speed of impulse transmission.

Nerve compression syndromes refer to a group of conditions characterized by the pressure or irritation of a peripheral nerve, causing various symptoms such as pain, numbness, tingling, and weakness in the affected area. This compression can occur due to several reasons, including injury, repetitive motion, bone spurs, tumors, or swelling. Common examples of nerve compression syndromes include carpal tunnel syndrome, cubital tunnel syndrome, radial nerve compression, and ulnar nerve entrapment at the wrist or elbow. Treatment options may include physical therapy, splinting, medications, injections, or surgery, depending on the severity and underlying cause of the condition.

The Ulnar nerve is one of the major nerves in the forearm and hand, which provides motor function to the majority of the intrinsic muscles of the hand (except for those innervated by the median nerve) and sensory innervation to the little finger and half of the ring finger. It originates from the brachial plexus, passes through the cubital tunnel at the elbow, and continues down the forearm, where it runs close to the ulna bone. The ulnar nerve then passes through the Guyon's canal in the wrist before branching out to innervate the hand muscles and provide sensation to the skin on the little finger and half of the ring finger.

Motor Neuron Disease (MND) is a progressive neurodegenerative disorder that affects the motor neurons, which are nerve cells in the brain and spinal cord responsible for controlling voluntary muscles involved in movement, speaking, breathing, and swallowing. As the motor neurons degenerate and die, they stop sending signals to the muscles, causing them to weaken, waste away (atrophy), and eventually lead to paralysis.

There are several types of MND, including:

1. Amyotrophic Lateral Sclerosis (ALS): Also known as Lou Gehrig's disease, this is the most common form of MND. It affects both upper and lower motor neurons, causing muscle weakness, stiffness, twitching, and atrophy throughout the body.
2. Progressive Bulbar Palsy (PBP): This type primarily affects the bulbar muscles in the brainstem, which control speech, swallowing, and chewing. Patients with PBP experience difficulties with speaking, slurred speech, and problems swallowing and may also have weak facial muscles and limb weakness.
3. Primary Lateral Sclerosis (PLS): This form of MND affects only the upper motor neurons, causing muscle stiffness, spasticity, and weakness, primarily in the legs. PLS progresses more slowly than ALS, and patients usually maintain their ability to speak and swallow for a longer period.
4. Progressive Muscular Atrophy (PMA): This type of MND affects only the lower motor neurons, causing muscle wasting, weakness, and fasciculations (muscle twitches). PMA progresses more slowly than ALS but can still be severely disabling over time.
5. Spinal Muscular Atrophy (SMA): This is a genetic form of MND that typically presents in infancy or childhood, although adult-onset forms exist. SMA affects the lower motor neurons in the spinal cord, causing muscle weakness and atrophy, primarily in the legs and trunk.

The exact cause of Motor Neuron Disease is not fully understood, but it is believed to involve a combination of genetic, environmental, and lifestyle factors. There is currently no cure for MND, and treatment focuses on managing symptoms, maintaining quality of life, and slowing disease progression through various therapies and medications.

Fasting is defined in medical terms as the abstinence from food or drink for a period of time. This practice is often recommended before certain medical tests or procedures, as it helps to ensure that the results are not affected by recent eating or drinking.

In some cases, fasting may also be used as a therapeutic intervention, such as in the management of seizures or other neurological conditions. Fasting can help to lower blood sugar and insulin levels, which can have a variety of health benefits. However, it is important to note that prolonged fasting can also have negative effects on the body, including malnutrition, dehydration, and electrolyte imbalances.

Fasting is also a spiritual practice in many religions, including Christianity, Islam, Buddhism, and Hinduism. In these contexts, fasting is often seen as a way to purify the mind and body, to focus on spiritual practices, or to express devotion or mourning.

Muscle contraction is the physiological process in which muscle fibers shorten and generate force, leading to movement or stability of a body part. This process involves the sliding filament theory where thick and thin filaments within the sarcomeres (the functional units of muscles) slide past each other, facilitated by the interaction between myosin heads and actin filaments. The energy required for this action is provided by the hydrolysis of adenosine triphosphate (ATP). Muscle contractions can be voluntary or involuntary, and they play a crucial role in various bodily functions such as locomotion, circulation, respiration, and posture maintenance.

Polyradiculoneuropathy is a medical term that refers to a condition affecting multiple nerve roots and peripheral nerves. It's a type of neuropathy, which is damage or disease affecting the peripheral nerves, and it involves damage to the nerve roots as they exit the spinal cord.

The term "poly" means many, "radiculo" refers to the nerve root, and "neuropathy" indicates a disorder of the nerves. Therefore, polyradiculoneuropathy implies that multiple nerve roots and peripheral nerves are affected.

This condition can result from various causes, such as infections (like Guillain-Barre syndrome), autoimmune disorders (such as lupus or rheumatoid arthritis), diabetes, cancer, or exposure to toxins. Symptoms may include weakness, numbness, tingling, or pain in the limbs, which can progress and become severe over time. Proper diagnosis and management are crucial for improving outcomes and preventing further nerve damage.

Myelin P0 protein, also known as P0 or MPZ (myelin protein zero), is a major structural component of the myelin sheath in the peripheral nervous system. The myelin sheath is a multilayered membrane that surrounds and insulates nerve fibers to increase the speed of electrical impulse transmission.

P0 protein is a transmembrane glycoprotein, which means it spans the lipid bilayer of the myelin membrane and has sugar molecules (glycans) attached to it. It plays a crucial role in maintaining the compact structure of the myelin sheath by forming homodimers that interact with each other through their extracellular domains, creating tight junctions between the apposing layers of the myelin membrane.

P0 protein also contributes to the stability and integrity of the myelin sheath by interacting with other myelin proteins, such as connexin 32 and peripheral myelin protein 22 (PMP22). Mutations in the MPZ gene can lead to various peripheral neuropathies, including Charcot-Marie-Tooth disease type 1B and Dejerine-Sottas syndrome.

Tibial neuropathy refers to damage or dysfunction of the tibial nerve, which is one of the major nerves in the leg. The tibial nerve provides motor and sensory innervation to the lower leg, ankle, and foot muscles, as well as the skin on the sole of the foot.

Tibial neuropathy can result from various causes, including trauma, compression, diabetes, or other systemic diseases that affect the nerves. The symptoms of tibial neuropathy may include pain, numbness, tingling, or weakness in the affected leg and foot. In severe cases, it can lead to muscle wasting and difficulty walking.

The diagnosis of tibial neuropathy typically involves a thorough physical examination, including a neurological assessment, as well as electrical testing of nerve function (nerve conduction studies and electromyography). Treatment depends on the underlying cause but may include medication, physical therapy, or surgery in some cases.

Paraneoplastic polyneuropathy is a rare neurological disorder that can occur in some individuals with cancer. It's caused by the immune system producing antibodies or cells that attack the nervous system (neurons, nerve axons, or myelin sheath) as a response to the presence of a tumor or cancer in the body.

The term "polyneuropathy" refers to damage or dysfunction affecting multiple peripheral nerves simultaneously. This can lead to various symptoms such as numbness, tingling, muscle weakness, and pain, typically starting in the hands and feet and progressing upwards.

In paraneoplastic polyneuropathy, these symptoms are related to the immune system's response to the cancer rather than direct invasion of the nerves by the tumor itself. The specific type of polyneuropathy can vary between individuals, and it may present as sensorimotor polyneuropathy, autonomic neuropathy, or a combination of both.

Early diagnosis and treatment of the underlying cancer are crucial for managing paraneoplastic polyneuropathy. Immunotherapy, plasma exchange, and intravenous immunoglobulin may be used to help control the immune response and alleviate symptoms.

Optic atrophy is a medical term that refers to the degeneration and shrinkage (atrophy) of the optic nerve, which transmits visual information from the eye to the brain. This condition can result in various vision abnormalities, including loss of visual acuity, color vision deficiencies, and peripheral vision loss.

Optic atrophy can occur due to a variety of causes, such as:

* Traumatic injuries to the eye or optic nerve
* Glaucoma
* Optic neuritis (inflammation of the optic nerve)
* Ischemic optic neuropathy (reduced blood flow to the optic nerve)
* Compression or swelling of the optic nerve
* Hereditary or congenital conditions affecting the optic nerve
* Toxins and certain medications that can damage the optic nerve.

The diagnosis of optic atrophy typically involves a comprehensive eye examination, including visual acuity testing, refraction assessment, slit-lamp examination, and dilated funduscopic examination to evaluate the health of the optic nerve. In some cases, additional diagnostic tests such as visual field testing, optical coherence tomography (OCT), or magnetic resonance imaging (MRI) may be necessary to confirm the diagnosis and determine the underlying cause.

There is no specific treatment for optic atrophy, but addressing the underlying cause can help prevent further damage to the optic nerve. In some cases, vision rehabilitation may be recommended to help patients adapt to their visual impairment.

Neuralgia is a type of pain that occurs along the pathway of a nerve, often caused by damage or irritation to the nerve. It is typically described as a sharp, stabbing, burning, or electric-shock like pain that can be severe and debilitating. Neuralgia can affect any nerve in the body, but it most commonly occurs in the facial area (trigeminal neuralgia) or in the nerves related to the spine (postherpetic neuralgia). The pain associated with neuralgia can be intermittent or constant and may be worsened by certain triggers such as touch, temperature changes, or movement. Treatment for neuralgia typically involves medications to manage pain, as well as other therapies such as nerve blocks, surgery, or lifestyle modifications.

The vestibulocochlear nerve, also known as the 8th cranial nerve, is responsible for transmitting sound and balance information from the inner ear to the brain. Vestibulocochlear nerve diseases refer to conditions that affect this nerve and can result in hearing loss, vertigo, and balance problems.

These diseases can be caused by various factors, including genetics, infection, trauma, tumors, or degeneration. Some examples of vestibulocochlear nerve diseases include:

1. Vestibular neuritis: an inner ear infection that causes severe vertigo, nausea, and balance problems.
2. Labyrinthitis: an inner ear infection that affects both the vestibular and cochlear nerves, causing vertigo, hearing loss, and tinnitus.
3. Acoustic neuroma: a benign tumor that grows on the vestibulocochlear nerve, causing hearing loss, tinnitus, and balance problems.
4. Meniere's disease: a inner ear disorder that causes vertigo, hearing loss, tinnitus, and a feeling of fullness in the ear.
5. Ototoxicity: damage to the inner ear caused by certain medications or chemicals that can result in hearing loss and balance problems.
6. Vestibular migraine: a type of migraine that is associated with vertigo, dizziness, and balance problems.

Treatment for vestibulocochlear nerve diseases varies depending on the specific condition and its severity. It may include medication, physical therapy, surgery, or a combination of these approaches.

An axon is a long, slender extension of a neuron (a type of nerve cell) that conducts electrical impulses (nerve impulses) away from the cell body to target cells, such as other neurons or muscle cells. Axons can vary in length from a few micrometers to over a meter long and are typically surrounded by a myelin sheath, which helps to insulate and protect the axon and allows for faster transmission of nerve impulses.

Axons play a critical role in the functioning of the nervous system, as they provide the means by which neurons communicate with one another and with other cells in the body. Damage to axons can result in serious neurological problems, such as those seen in spinal cord injuries or neurodegenerative diseases like multiple sclerosis.

Sciatic neuropathy is a condition that results from damage or injury to the sciatic nerve, which is the largest nerve in the human body. The sciatic nerve originates from the lower spine (lumbar and sacral regions) and travels down through the buttocks, hips, and legs to the feet.

Sciatic neuropathy can cause various symptoms, including pain, numbness, tingling, weakness, or difficulty moving the affected leg or foot. The pain associated with sciatic neuropathy is often described as sharp, shooting, or burning and may worsen with movement, coughing, or sneezing.

The causes of sciatic neuropathy include compression or irritation of the nerve due to conditions such as herniated discs, spinal stenosis, bone spurs, tumors, or piriformis syndrome. Trauma or injury to the lower back, hip, or buttocks can also cause sciatic neuropathy.

Diagnosing sciatic neuropathy typically involves a physical examination and medical history, as well as imaging tests such as X-rays, MRI, or CT scans to visualize the spine and surrounding structures. Treatment options may include pain management, physical therapy, steroid injections, or surgery, depending on the severity and underlying cause of the condition.

Guillain-Barré syndrome (GBS) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nervous system, leading to muscle weakness, tingling sensations, and sometimes paralysis. The peripheral nervous system includes the nerves that control our movements and transmit signals from our skin, muscles, and joints to our brain.

The onset of GBS usually occurs after a viral or bacterial infection, such as respiratory or gastrointestinal infections, or following surgery, vaccinations, or other immune system triggers. The exact cause of the immune response that leads to GBS is not fully understood.

GBS typically progresses rapidly over days or weeks, with symptoms reaching their peak within 2-4 weeks after onset. Most people with GBS experience muscle weakness that starts in the lower limbs and spreads upward to the upper body, arms, and face. In severe cases, the diaphragm and chest muscles may become weakened, leading to difficulty breathing and requiring mechanical ventilation.

The diagnosis of GBS is based on clinical symptoms, nerve conduction studies, and sometimes cerebrospinal fluid analysis. Treatment typically involves supportive care, such as pain management, physical therapy, and respiratory support if necessary. In addition, plasma exchange (plasmapheresis) or intravenous immunoglobulin (IVIG) may be used to reduce the severity of symptoms and speed up recovery.

While most people with GBS recover completely or with minimal residual symptoms, some may experience long-term disability or require ongoing medical care. The prognosis for GBS varies depending on the severity of the illness and the individual's age and overall health.

The term "diabetic foot" refers to a condition that affects the feet of people with diabetes, particularly when the disease is not well-controlled. It is characterized by a combination of nerve damage (neuropathy) and poor circulation (peripheral artery disease) in the feet and lower legs.

Neuropathy can cause numbness, tingling, or pain in the feet, making it difficult for people with diabetes to feel injuries, cuts, blisters, or other foot problems. Poor circulation makes it harder for wounds to heal and increases the risk of infection.

Diabetic foot ulcers are a common complication of diabetic neuropathy and can lead to serious infections, hospitalization, and even amputation if not treated promptly and effectively. Preventive care, including regular foot exams, proper footwear, and good blood glucose control, is essential for people with diabetes to prevent or manage diabetic foot problems.

The Peroneal nerve, also known as the common fibular nerve, is a branch of the sciatic nerve that supplies the muscles of the lower leg and provides sensation to the skin on the outer part of the lower leg and the top of the foot. It winds around the neck of the fibula (calf bone) and can be vulnerable to injury in this area, leading to symptoms such as weakness or numbness in the foot and leg.

The Peripheral Nervous System (PNS) is that part of the nervous system which lies outside of the brain and spinal cord. It includes all the nerves and ganglia ( clusters of neurons) outside of the central nervous system (CNS). The PNS is divided into two components: the somatic nervous system and the autonomic nervous system.

The somatic nervous system is responsible for transmitting sensory information from the skin, muscles, and joints to the CNS, and for controlling voluntary movements of the skeletal muscles.

The autonomic nervous system, on the other hand, controls involuntary actions, such as heart rate, digestion, respiratory rate, salivation, perspiration, pupillary dilation, and sexual arousal. It is further divided into the sympathetic and parasympathetic systems, which generally have opposing effects and maintain homeostasis in the body.

Damage to the peripheral nervous system can result in various medical conditions such as neuropathies, neuritis, plexopathies, and radiculopathies, leading to symptoms like numbness, tingling, pain, weakness, or loss of reflexes in the affected area.

Brachial plexus neuropathies refer to a group of conditions that affect the brachial plexus, which is a network of nerves that originates from the spinal cord in the neck and travels down the arm. These nerves are responsible for providing motor and sensory function to the shoulder, arm, and hand.

Brachial plexus neuropathies can occur due to various reasons, including trauma, compression, inflammation, or tumors. The condition can cause symptoms such as pain, numbness, weakness, or paralysis in the affected arm and hand.

The specific medical definition of brachial plexus neuropathies is:

"A group of conditions that affect the brachial plexus, characterized by damage to the nerves that results in motor and/or sensory impairment of the upper limb. The condition can be congenital or acquired, with causes including trauma, compression, inflammation, or tumors."

Schwann cells, also known as neurolemmocytes, are a type of glial cell that form the myelin sheath around peripheral nervous system (PNS) axons, allowing for the rapid and efficient transmission of nerve impulses. These cells play a crucial role in the maintenance and function of the PNS.

Schwann cells originate from the neural crest during embryonic development and migrate to the developing nerves. They wrap around the axons in a spiral fashion, forming multiple layers of myelin, which insulates the nerve fibers and increases the speed of electrical impulse transmission. Each Schwann cell is responsible for myelinating a single segment of an axon, with the gaps between these segments called nodes of Ranvier.

Schwann cells also provide structural support to the neurons and contribute to the regeneration of injured peripheral nerves by helping to guide the regrowth of axons to their targets. Additionally, Schwann cells can participate in immune responses within the PNS, such as releasing cytokines and chemokines to recruit immune cells during injury or infection.

The optic nerve, also known as the second cranial nerve, is the nerve that transmits visual information from the retina to the brain. It is composed of approximately one million nerve fibers that carry signals related to vision, such as light intensity and color, from the eye's photoreceptor cells (rods and cones) to the visual cortex in the brain. The optic nerve is responsible for carrying this visual information so that it can be processed and interpreted by the brain, allowing us to see and perceive our surroundings. Damage to the optic nerve can result in vision loss or impairment.

Neuromuscular diseases are a group of disorders that involve the peripheral nervous system, which includes the nerves and muscles outside of the brain and spinal cord. These conditions can affect both children and adults, and they can be inherited or acquired. Neuromuscular diseases can cause a wide range of symptoms, including muscle weakness, numbness, tingling, pain, cramping, and twitching. Some common examples of neuromuscular diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), peripheral neuropathy, and myasthenia gravis. The specific symptoms and severity of these conditions can vary widely depending on the underlying cause and the specific muscles and nerves that are affected. Treatment for neuromuscular diseases may include medications, physical therapy, assistive devices, or surgery, depending on the individual case.

Neuritis is a general term that refers to inflammation of a nerve or nerves, often causing pain, loss of function, and/or sensory changes. It can affect any part of the nervous system, including the peripheral nerves (those outside the brain and spinal cord) or the cranial nerves (those that serve the head and neck). Neuritis may result from various causes, such as infections, autoimmune disorders, trauma, toxins, or metabolic conditions. The specific symptoms and treatment depend on the underlying cause and the affected nerve(s).

In medical terms, sensation refers to the ability to perceive and interpret various stimuli from our environment through specialized receptor cells located throughout the body. These receptors convert physical stimuli such as light, sound, temperature, pressure, and chemicals into electrical signals that are transmitted to the brain via nerves. The brain then interprets these signals, allowing us to experience sensations like sight, hearing, touch, taste, and smell.

There are two main types of sensations: exteroceptive and interoceptive. Exteroceptive sensations involve stimuli from outside the body, such as light, sound, and touch. Interoceptive sensations, on the other hand, refer to the perception of internal bodily sensations, such as hunger, thirst, heartbeat, or emotions.

Disorders in sensation can result from damage to the nervous system, including peripheral nerves, spinal cord, or brain. Examples include numbness, tingling, pain, or loss of sensation in specific body parts, which can significantly impact a person's quality of life and ability to perform daily activities.

Electromyography (EMG) is a medical diagnostic procedure that measures the electrical activity of skeletal muscles during contraction and at rest. It involves inserting a thin needle electrode into the muscle to record the electrical signals generated by the muscle fibers. These signals are then displayed on an oscilloscope and may be heard through a speaker.

EMG can help diagnose various neuromuscular disorders, such as muscle weakness, numbness, or pain, and can distinguish between muscle and nerve disorders. It is often used in conjunction with other diagnostic tests, such as nerve conduction studies, to provide a comprehensive evaluation of the nervous system.

EMG is typically performed by a neurologist or a physiatrist, and the procedure may cause some discomfort or pain, although this is usually minimal. The results of an EMG can help guide treatment decisions and monitor the progression of neuromuscular conditions over time.

Myelin proteins are proteins that are found in the myelin sheath, which is a fatty (lipid-rich) substance that surrounds and insulates nerve fibers (axons) in the nervous system. The myelin sheath enables the rapid transmission of electrical signals (nerve impulses) along the axons, allowing for efficient communication between different parts of the nervous system.

There are several types of myelin proteins, including:

1. Proteolipid protein (PLP): This is the most abundant protein in the myelin sheath and plays a crucial role in maintaining the structure and function of the myelin sheath.
2. Myelin basic protein (MBP): This protein is also found in the myelin sheath and helps to stabilize the compact structure of the myelin sheath.
3. Myelin-associated glycoprotein (MAG): This protein is involved in the adhesion of the myelin sheath to the axon and helps to maintain the integrity of the myelin sheath.
4. 2'3'-cyclic nucleotide 3' phosphodiesterase (CNP): This protein is found in oligodendrocytes, which are the cells that produce the myelin sheath in the central nervous system. CNP plays a role in maintaining the structure and function of the oligodendrocytes.

Damage to myelin proteins can lead to demyelination, which is a characteristic feature of several neurological disorders, including multiple sclerosis (MS), Guillain-Barré syndrome, and Charcot-Marie-Tooth disease.

The Tibial nerve is a major branch of the sciatic nerve that originates in the lower back and runs through the buttock and leg. It provides motor (nerve impulses that control muscle movement) and sensory (nerve impulses that convey information about touch, temperature, and pain) innervation to several muscles and skin regions in the lower limb.

More specifically, the Tibial nerve supplies the following structures:

1. Motor Innervation: The Tibial nerve provides motor innervation to the muscles in the back of the leg (posterior compartment), including the calf muscles (gastrocnemius and soleus) and the small muscles in the foot (intrinsic muscles). These muscles are responsible for plantarflexion (pointing the foot downward) and inversion (turning the foot inward) of the foot.
2. Sensory Innervation: The Tibial nerve provides sensory innervation to the skin on the sole of the foot, as well as the heel and some parts of the lower leg.

The Tibial nerve travels down the leg, passing behind the knee and through the calf, where it eventually joins with the common fibular (peroneal) nerve to form the tibial-fibular trunk. This trunk then divides into several smaller nerves that innervate the foot's intrinsic muscles and skin.

Damage or injury to the Tibial nerve can result in various symptoms, such as weakness or paralysis of the calf and foot muscles, numbness or tingling sensations in the sole of the foot, and difficulty walking or standing on tiptoes.

A foot ulcer is a wound or sore on the foot that occurs most commonly in people with diabetes, but can also affect other individuals with poor circulation or nerve damage. These ulcers can be challenging to heal and are prone to infection, making it essential for individuals with foot ulcers to seek medical attention promptly.

Foot ulcers typically develop due to prolonged pressure on bony prominences of the foot, leading to breakdown of the skin and underlying tissues. The development of foot ulcers can be attributed to several factors, including:

1. Neuropathy (nerve damage): This condition causes a loss of sensation in the feet, making it difficult for individuals to feel pain or discomfort associated with pressure points, leading to the formation of ulcers.
2. Peripheral artery disease (PAD): Reduced blood flow to the lower extremities can impair wound healing and make the body more susceptible to infection.
3. Deformities: Structural foot abnormalities, such as bunions or hammertoes, can cause increased pressure on specific areas of the foot, increasing the risk of ulcer formation.
4. Poorly fitting shoes: Shoes that are too tight, narrow, or ill-fitting can create friction and pressure points, contributing to the development of foot ulcers.
5. Trauma: Injuries or trauma to the feet can lead to the formation of ulcers, particularly in individuals with neuropathy who may not feel the initial pain associated with the injury.
6. Foot care neglect: Failure to inspect and care for the feet regularly can result in undetected wounds or sores that progress into ulcers.

Foot ulcers are classified based on their depth, severity, and extent of tissue involvement. Proper assessment, treatment, and prevention strategies are crucial in managing foot ulcers and minimizing the risk of complications such as infection, gangrene, and amputation.

The median nerve is one of the major nerves in the human body, providing sensation and motor function to parts of the arm and hand. It originates from the brachial plexus, a network of nerves that arise from the spinal cord in the neck. The median nerve travels down the arm, passing through the cubital tunnel at the elbow, and continues into the forearm and hand.

In the hand, the median nerve supplies sensation to the palm side of the thumb, index finger, middle finger, and half of the ring finger. It also provides motor function to some of the muscles that control finger movements, allowing for flexion of the fingers and opposition of the thumb.

Damage to the median nerve can result in a condition called carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hand and fingers.

... (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any ... NCBI/UW entry on Hereditary Sensory and Autonomic Neuropathy IV GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy ... Genes related to Hereditary sensory and autonomic neuropathy Type 1: Mutations in the SPTLC1 gene cause hereditary sensory ... Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells ( ...
Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy type III (Familial dysautonomia) ... Hereditary sensory and autonomic neuropathy type I (HSAN I) or hereditary sensory neuropathy type I (HSN I) is a group of ... HSAN I must be distinguished from hereditary motor and sensory neuropathy (HMSN) and other types of hereditary sensory and ... Hereditary sensory and autonomic neuropathy type IV (Congenital insensitivity to pain with anhidrosis) Hereditary motor and ...
Axelrod FB (2002). "Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs". Clin Auton Res. 12. ... Felicia B Axelrod; Gabrielle Gold-von Simson (October 3, 2007). "Hereditary sensory and autonomic neuropathies: types II, III, ... FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies (HSANs). All HSANs are ... by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic ...
Axelrod FB, Gold-von Simson G (October 2007). "Hereditary sensory and autonomic neuropathies: types II, III, and IV". Orphanet ... Bylsma LM, Gračanin A, Vingerhoets AJ (February 2019). "The neurobiology of human crying". Clinical Autonomic Research. ... "Self-soothing behaviors with particular reference to oxytocin release induced by non-noxious sensory stimulation". Frontiers in ...
Hereditary sensory and autonomic neuropathies (HSAN), e.g. CIPA, are hereditary disorders that are characterized by ... There are many diseases like this, and they all fall under the category of hereditary sensory autonomic neuropathies. ... Some diseases, like CIPA, are hereditary disorders where genes essential for the correct functioning of nociceptors no longer ... however this is due to diabetic neuropathy. Just like in Exercise-Induced Hypoalgesia, the increased blood pressure of ...
Felicia B Axelrod; Gabrielle Gold-von Simson (October 3, 2007). "Hereditary sensory and autonomic neuropathies: types II, III, ... The trigeminal V1 (fifth cranial) nerve bears the sensory pathway of the tear reflexes. When the trigeminal nerve is cut, tears ... The great (superficial) petrosal nerve from cranial nerve VII provides autonomic innervation to the lacrimal gland. It is ...
"Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV". Neurology. 52 (8): 1652-1657. ... Gibbons, Christopher; Freeman, Roy (August 2004). "The evaluation of small fiber function-autonomic and quantitative sensory ... Freeman, Roy (April 2005). "Autonomic peripheral neuropathy". The Lancet. 365 (9466): 1259-1270. doi:10.1016/S0140-6736(05) ... Agashe, Shruti; Petak, Steven (2018). "Cardiac Autonomic Neuropathy in Diabetes Mellitus". Methodist DeBakey Cardiovascular ...
... hereditary sensory and autonomic neuropathy type IV)". Pediatric Neurology. Clinical Neurology and Neurosurgery. 11 (1): 50-56 ...
Aoki was identified to be diagnosed with hereditary sensory autonomic neuropathy soon after his birth. He was born with a rare ...
June 2013). "Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2". Neurology. 80 ( ... Mutations in SPTLC2 were identified in patients with hereditary sensory neuropathy type I. In response to IL-17A and TNF, ... as a common cause for hereditary sensory neuropathy". Neuromuscular Disorders. 12 (7-8): 656-658. doi:10.1016/S0960-8966(02) ...
Another condition caused by mutations in the PRDM12 gene is hereditary sensory and autonomic neuropathy type VIII.[citation ... and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case ... and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case ... Abnormal functioning of the sensory nerves is what causes the sensory loss in patients with this condition.[citation needed] A ...
August 2011). "KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy ... Studies regarding Hereditary Sensory and Autonomic Neuropathy type II (HSAN II), a rare autosomal-recessive disorder ... In 2011, the first disease associated alleles of KIF1A were found to be related to Hereditary Spastic Paraplegia (HSP), a ... Mice with homozygous inactivation of KIF1A showed severe motor and sensory disturbances; most died within 24 hours of birth and ...
orpha.net: Hereditary sensory and autonomic neuropathy type 4 Shatzky S, Moses S, Levy J, et al. (June 2000). "Congenital ... CIPA is the fourth type of hereditary sensory and autonomic neuropathy (HSAN), and is also known as HSAN IV. Signs of CIPA are ... This protein induces outgrowth of axons and dendrites and promotes the survival of embryonic sensory and sympathetic neurons. ...
Spasticity Hereditary spastic paraplegia Hereditary sensory and autonomic neuropathy RESERVED, INSERM US14-- ALL RIGHTS. " ... "Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1". European Journal of ... Spastic paraplegia 31 is a rare type of hereditary spastic paraplegia which is characterized by sensation anomalies of the ... these include peripheral neuropathy, bulbar palsy, dysarthria, dysphagia, distal limb amyotrophy, and impaired sensation of ...
... autonomic neuropathy type 1 (HSAN1) and hereditary sensory have elevated number of this kind of sphingolipids in their plasma. ... "Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1". Neurology. 92 (4): e359-e370 ... reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1". ... In some of the experiments, there are hypothesis about a possible diabetic neuropathy treatment. This one consists in an oral L ...
Reilly has worked on hereditary sensory and autonomic neuropathies and carpal tunnel syndrome in inherited neuropathies. Reilly ... "DNA testing in hereditary neuropathies". In Said, Gérard; Krarup, Christian (eds.). Chapter 12 - DNA testing in hereditary ... She studies peripheral neuropathy. She is the President of the Association of British Neurologists. Reilly studied medicine at ... Consortium (INC), Inherited Neuropathy; Züchner, Stephan; Reilly, Mary M.; Antonellis, Anthony; Yang, Xiang-Lei; Speziani, ...
GeneReviews/NCBI/NIH/UW entry on Hereditary Sensory and Autonomic Neuropathy IV Indo Y (May 2002). "Genetics of congenital ... or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) ... March 1994). "Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene". Nature. 368 ( ... The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations ...
Hereditary sensory and autonomic neuropathy Familial dysautonomia Congenital insensitivity to pain with anhidrosis Hypoalgesia ... However, since these disorders are characterized by dysfunction of the sensory system in general, autism is not in itself an ... Patients with such mutations are congenitally insensitive to pain and lack other neuropathies. There are three mutations in ... encoding a putative transcription factor expressed in small diameter sensory neurons", as the cause. As a therapeutic ...
HSAN1 (hereditary sensory and autonomic neuropathy type 1) is a genetic disorder caused by mutations in either one of SPTLC1 or ... "Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I". ... "Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids". The Journal of Biological ... "SPTLC1 is mutated in hereditary sensory neuropathy, type 1". Nature Genetics. 27 (3): 261-2. doi:10.1038/85817. PMID 11242106. ...
Congenital insensitivity to pain Congenital insensitivity to pain with anhidrosis Hereditary sensory and autonomic neuropathy " ... Unlike CIPA and CIP which are considered hereditary due to their recessive inheritance this condition is dominantly inherited, ... Ervin, F. R.; Sternbach, R. A. (1960). "Hereditary insensitivity to pain". Transactions of the American Neurological ...
In humans, loss of dystonin function can cause hereditary sensory and autonomic neuropathy type VI and axonal Charcot-Marie- ... "Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy". Neurology. Genetics. 6 (5): e496. doi: ... "Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice". Autophagy. 11 (7): 1025-36 ... Several Dst mutant mouse lines have been described which share the common feature of having sensory neuron degeneration. ...
Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates". American Journal ... and touch sensation owing to reduction or absence of peripheral sensory neurons. "Entrez Gene: Hereditary sensory neuropathy, ... Hereditary sensory neuropathy, type II also known as HSN2 is a region of a parent protein which in humans is encoded by the ... July 2008). "Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II". J Clin ...
Other types of somatosensory loss include hereditary sensory and autonomic neuropathy, which consists of ineffective afferent ... Older adults with sensory loss often find it difficult to adapt to their sensory loss, becoming depressed, anxious, lethargic, ... Sensory loss can occur due to a minor nick or lesion on the spinal cord which creates a problem within the neurosystem. This ... Dual sensory loss is the simultaneous loss of two senses. Research has shown that 6% of non-institutionalized older adults had ...
... may refer to: Hereditary sensory and autonomic neuropathy Renk Airport, South Sudan This disambiguation page lists ...
The main group of sensory neuron diseases are hereditary sensory and autonomic neuropathies (HSAN) such as HSAN I, HSAN II, and ... Neurodegenerative diseases of sensory neurons can cause degeneration of sensory neurons involved in transmitting sensory ... Peripheral nervous system diseases may be further categorized by the type of nerve cell (motor, sensory, or both) affected by ... Most patients retain cognitive function and sensory neurons are generally unaffected. Patients are often diagnosed after the ...
Most people with congenital insensitivity to pain have one of five hereditary sensory and autonomic neuropathies (which ... Axelrod FB, Hilz MJ (December 2003). "Inherited autonomic neuropathies". Seminars in Neurology. 23 (4): 381-390. doi:10.1055/s- ... Some manifestations of neuropathic pain include: traumatic neuropathy, tic douloureux, painful diabetic neuropathy, and ... The Wikibook Sensory Systems has a page on the topic of: Physiology of Pain The Wikibook Internal Medicine has a page on the ...
... a rare group of autosomal dominant neuropathies of autonomic (and sometimes also sensory or motor) nerves Giant axonal ... "Leber's hereditary optic neuropathy") Diabetic neuropathy, peripheral neuropathy due to diabetes mellitus Familial amyloid ... Look up neuropathy in Wiktionary, the free dictionary. Neuropathy may refer to: Peripheral neuropathy, a condition affecting ... a peripheral neuropathy that affects the sensory and muscle nerves Neuropathy, ataxia, and retinitis pigmentosa (NARP), a ...
Guillain-Barré syndrome Hereditary sensory and autonomic neuropathy Alcoholism Amyloidosis Ross syndrome Pure autonomic failure ...
... neuropathy with proximal dominance Charcot-Marie-Tooth disease Hereditary motor neuropathies Hereditary sensory and autonomic ... Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all ... 2013). Hereditary Motor Sensory Neuropathy. http://www.aanem.org/Education/Patient-Resources/Disorders/Hereditary-Motor-Sensory ... The term "hereditary motor and sensory neuropathy" was used mostly historically to denote the more common forms Charcot-Marie- ...
... hereditary sensory and autonomic neuropathies MeSH C20.111.258.750.600.250 - dysautonomia, familial MeSH C20.111.258.750.800 - ...
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any ... NCBI/UW entry on Hereditary Sensory and Autonomic Neuropathy IV GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy ... Genes related to Hereditary sensory and autonomic neuropathy Type 1: Mutations in the SPTLC1 gene cause hereditary sensory ... Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells ( ...
G60.0 - Hereditary motor and sensory neuropathy. SNOMEDCT:. 128205005 - Hereditary sensory and autonomic neuropathy ... Hereditary sensory and autonomic neuropathies (HSANs) are inherited peripheral neuropathies with variable expressivity often ... Hereditary sensory and autonomic neuropathies. Subscriber Sign In Feedback Select Language Share Search for a symptom, ... Hereditary sensory and autonomic neuropathies Print Images (7) Contributors: William Farmer MD, Keith Morley MD, Susan Burgin ...
Hereditary sensory and autonomic neuropathy type 1. Disease definition Hereditary sensory neuropathy type I (HSN I) is a slowly ... Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as ... Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, ... diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, ...
Autonomic neuropathies can be hereditary or acquired in nature. ... Autonomic neuropathies are a collection of syndromes and ... diseases affecting the autonomic neurons, either parasympathetic or sympathetic, or both. ... Hereditary sensory autonomic neuropathy. Currently, 5 types of hereditary sensory autonomic neuropathy (HSAN) have been defined ... The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel ...
Autonomic dysfunction occurs when the autonomic nervous system is damaged. This is the system of nerves that controls functions ... Hereditary sensory and autonomic neuropathies (HSAN). HSAN is a group of related genetic disorders that cause widespread nerve ... Other types of autonomic dysfunction can result from disease or damage to your body. Autonomic neuropathy refers to damage to ... Autonomic dysfunction develops when the nerves of the ANS are damaged. This condition is called autonomic neuropathy or ...
Hereditary sensory and autonomic neuropathy type II. MedlinePlus Genetics provides information about Hereditary sensory and ... Small fiber neuropathy. Variants in the SCN9A gene account for approximately 30 percent of cases of small fiber neuropathy, a ... NaV1.7 sodium channels are also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit ... The loss of NaV1.7 sodium channel activity in olfactory sensory neurons likely prevents smell-related signals from reaching the ...
Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, ... Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene. Abstract. ... Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene. ... ibrain.univ-tours.fr/english-version/news/scientifics/hereditary-sensory-autonomic-neuropathy-type-ii-report-of-two-novel- ...
Hereditary Sensory Neuropathy Type I (HSN I); Hereditary Sensory Radicular Neuropathy; Hick Syndrome; Lumbosacral Syringomyelia ... "Hereditary Sensory and Autonomic Neuropathy Type I (HSAN I)." Syndromes: Rapid Recognition and Perioperative Implications, 2e ... Hereditary Sensory and Autonomic Neuropathy Type I (HSAN I). In: Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & ... Hereditary sensory and autonomic neuropathy type i (hsan i). Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & ...
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3. INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, ... 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3. 603722 ELONGATOR COMPLEX PROTEIN 1; ELP1. ... 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3. 603722 ELONGATOR COMPLEX PROTEIN 1; ELP1. ...
hereditary sensory and autonomic neuropathy type 1C. IDs. hereditary sensory and autonomic neuropathy type 1C ...
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. Grudzinska ... Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the ...
Categories: Hereditary Sensory and Autonomic Neuropathies Image Types: Photo, Illustrations, Video, Color, Black&White, ...
Riley-Day syndrome; FD; Hereditary sensory and autonomic neuropathy - type III (HSAN III); Autonomic crises - familial ... Autonomic neuropathies. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS. Tasker RC, Wilson KM, eds. Nelson Textbook of ... FD affects the nerves in the autonomic (involuntary) nervous system. These nerves manage daily body functions such as blood ... After age 3, most children develop autonomic crises. These are episodes of vomiting with very high blood pressure, racing heart ...
Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to ... Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to ... Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to ... Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to ...
A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity. Cui M ...
Hereditary sensory and autonomic neuropathy type II. Year: 1995, Volume: 61, Issue: 1, January-February ...
... in SPLTC1 are also known to cause a different neurological disorder called hereditary sensory and autonomic neuropathy type 1 ( ...
... familial dysautonomia is now recognized as one of several hereditary sensory and autonomic neuropathies. ... is an inherited disorder of the nervous system that affects the development and survival of autonomic and some sensory neurons ... 5] familial dysautonomia is now recognized as one of several hereditary sensory and autonomic neuropathies. Evidence of the ... 3, 9] This reduction seems to indicate a developmental arrest in the sensory and autonomic systems and, in the latter, ...
... models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy ... Researching cellular stress in tRNA synthetase-associated peripheral neuropathies. JAX Professor Robert Burgess, Ph.D., ... tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase. Science. 2021 Sep 3; 373(6559):1161- ...
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American ... A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility ... Abstract A62: Canine pedigree analysis as a model of hereditary breast cancer Molecular Cancer Research. 16. DOI: 10.1158/1557- ... A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery. Human Mutation. PMID ...
Autonomic neuropathies can be hereditary or acquired in nature. ... Autonomic neuropathies are a collection of syndromes and ... diseases affecting the autonomic neurons, either parasympathetic or sympathetic, or both. ... Hereditary sensory autonomic neuropathy. Currently, 5 types of hereditary sensory autonomic neuropathy (HSAN) have been defined ... The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel ...
Hospital previously identified mutations in the FAM134B gene causing a very rare hereditary sensory and autonomic neuropathy ( ... HSAN), in which sensory nerves die. As a result, patients are unable to perceive pain and temperature correctly, which can lead ... in another membrane curvature protein called ARL6IP1 cause a similar neurodegenerative disorder which combines sensory defects ...
Hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. The Neurologist 2004; 10: 327-337. ... Hereditary sensory motor neuropathy type 6 (Charcot Marie Tooth). Charcot-Marie-Tooth disease, or hereditary sensory and motor ... Also typical of the hereditary sensory and motor neuropathies is the predominance of motor symptoms over sensory, despite ... Voo I, et al: Hereditary motor and sensory neuropathy type VI with optic atrophy. Am J Ophthalmol 2003; 136: 670-677 ...
If this is the case then individuals with Hereditary Sensory and Autonomic Neuropathy, a disorder that inhibits the ability to ...
Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also ... by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ...
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the ...
Neuropathies, Hereditary Sensory and Autonomic Sensory and Autonomic Neuropathies, Hereditary Hereditary Sensory and Autonomic ... Hereditary Sensory And Autonomic Neuropathy IV Hereditary Sensory Autonomic Neuropathy, Type 4 Hereditary Sensory and Autonomic ... Hereditary Sensory And Autonomic Neuropathy IV. Hereditary Sensory Autonomic Neuropathy, Type 1. Hereditary Sensory Autonomic ... Hereditary Sensory Autonomic Neuropathy, Type 5. Hereditary Sensory Neuropathies. Hereditary Sensory Neuropathy. Hereditary ...
... now known by wonkier names like Channelopathy-associated insensitivity to pain and Hereditary Sensory and Autonomic Neuropathy ...
Summary The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies ... Hereditary sensory and autonomic neuropathy August 26 2018 Recommended panel testing at Breda Genetics for this condition: ... Hereditary sensory and autonomic neuropathy (ATL1, ATL3, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, ...
  • In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. (wikipedia.org)
  • Mutant transthyretin produced in the liver accumulates as amyloid deposits in the peripheral nervous system and autonomic nervous system. (medscape.com)
  • These types differ in their presentation, the portions of the autonomic nervous system affected, their associated genes, and inheritance pattern. (medscape.com)
  • The autonomic nervous system (ANS) controls several basic functions. (healthline.com)
  • What is the autonomic nervous system? (healthline.com)
  • The ANS includes the sympathetic autonomic nervous system (SANS) and the parasympathetic autonomic nervous system (PANS). (healthline.com)
  • Genetic neurodegenerative disorder characterized by a loss of sensations, especially in the lower extremities, leading to perforating skin ulceration and bone destruction as a result of abnormal functioning of the autonomic nervous system. (mhmedical.com)
  • FD affects the nerves in the autonomic (involuntary) nervous system. (mountsinai.org)
  • Familial dysautonomia (FD) is an inherited disorder of the nervous system that affects the development and survival of autonomic and some sensory neurons. (medscape.com)
  • This group of hereditary polyneuropathies is the most common inherited disorder of the nervous system. (neuroophthalmology.ca)
  • Pediatric onset of autonomic nervous system disorders is very rare. (thedysautonomiaproject.org)
  • These are also known as genetic or congenital autonomic nervous system disorders. (thedysautonomiaproject.org)
  • Pediatric dysautonomias often reflect problems or mutations which occur during the development of the autonomic nervous system. (thedysautonomiaproject.org)
  • One type of mutation, found almost exclusively in people of Ashkenazi Jewish heritage, affects the autonomic and sensory nervous system development. (thedysautonomiaproject.org)
  • Arrested development in the sensory and autonomic nervous systems results in a reduction in nonmyelinated nerve fibers as well as a reduction in small diameter myelinated axons. (arizona.edu)
  • Autonomic neuropathy is a symptom complex associated with the dysfunction of the autonomic nervous system that is responsible for the control of everyday body functions including blood pressure , heart rate, sweating , bowel and bladder function. (symptoma.mt)
  • Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. (beds.ac.uk)
  • People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). (beds.ac.uk)
  • Familial dysautonomia (FD), a rare neurodevelopmental and neurodegenerative disorder affects the sympathetic and sensory nervous system. (bvsalud.org)
  • Sensory neurons lose the ability to transmit signals, while motor neurons has reduced ability to transmit signals. (wikipedia.org)
  • Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons) which transmit information about sensations such as pain, temperature, and touch. (wikipedia.org)
  • Autonomic neuropathies are a collection of syndromes and diseases affecting the autonomic neurons, either parasympathetic or sympathetic, or both. (medscape.com)
  • NaV1.7 sodium channels are also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit smell-related signals to the brain. (medlineplus.gov)
  • The loss of NaV1.7 sodium channel activity in olfactory sensory neurons likely prevents smell-related signals from reaching the brain, leading to a complete loss of the sense of smell (anosmia). (medlineplus.gov)
  • Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. (beds.ac.uk)
  • Charcot-Marie-Tooth disease, or hereditary sensory and motor neuropathy (HSMN), is a clinically and genetically heterogenous disorder affecting the peripheral motor and sensory nerves. (neuroophthalmology.ca)
  • Hereditary neuropathies include a variety of congenital degenerative peripheral neuropathies (eg, Charcot-Marie-Tooth disease). (msdmanuals.com)
  • Charcot-Marie-Tooth (CMT) disease, or sensorimotor neuropathy, is the most frequent hereditary neuromuscular disease , with a prevalence of 1/2,500 individuals (Suter and Sherer, 2003). (healthincode.com)
  • The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. (healthincode.com)
  • in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)
  • [ 5 ] familial dysautonomia is now recognized as one of several hereditary sensory and autonomic neuropathies. (medscape.com)
  • Vasomotor instability and sensory neuropathy are among the outstanding signs in familial dysautonomia. (arizona.edu)
  • Mendoza-Santiesteban CE, Palma JA, Hedges TR 3rd, Laver NV, Farhat N, Norcliffe-Kaufmann L, Kaufmann H. Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia . (arizona.edu)
  • Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). (bvsalud.org)
  • Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. (orpha.net)
  • Mutations in SPLTC1 are also known to cause a different neurological disorder called hereditary sensory and autonomic neuropathy type 1 (HSAN1). (worldhealth.net)
  • Mutations in another membrane curvature protein called ARL6IP1 cause a similar neurodegenerative disorder which combines sensory defects with muscle hardening (spasticity) in the legs. (eurasiareview.com)
  • If this is the case then individuals with Hereditary Sensory and Autonomic Neuropathy, a disorder that inhibits the ability to feel pain, would not be people. (dailycollegian.com)
  • At that time, the technology did not exist to determine the cause of this disorder, but from these rare families we know that CIP - now known by wonkier names like Channelopathy-associated insensitivity to pain and Hereditary Sensory and Autonomic Neuropathy - is the result of specific mutations or deletions within single genes required for transmitting pain signals. (uconn.edu)
  • Although POTS (postural orthostatic tachycardia syndrome) may occur when a person is still seeing a pediatrician, it is not a genetic or congenital autonomic disorder. (thedysautonomiaproject.org)
  • CMT3 (also known as Dejerine-Sottas disease) is a rare congenital hypomyelinating neuropathy, which can be an autosomal dominant or a recessive disorder with mutations in several genes, including PMP22 , MPZ , and EGR2 . (msdmanuals.com)
  • Other features of autonomic dysfunction include orthostatic hypotension, excessive salivation, gastrointestinal motility dysfunction, bladder dysfunction, and abnormal pupil dilation. (logicalimages.com)
  • HSAN type 2, also known as congenital sensory neuropathy (CSN), is autosomal recessively inherited and has 4 subtypes. (logicalimages.com)
  • Eight different clinical entities have been described under hereditary sensory and autonomic neuropathies - all characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. (wikipedia.org)
  • Rarely, a mutation in the gelsolin gene, which produces a protein important in cytoskeletal actin function, may also lead to amyloid deposition in autonomic nerves. (medscape.com)
  • Autonomic dysfunction develops when the nerves of the ANS are damaged. (healthline.com)
  • Injury to nerves from conditions like diabetes and Parkinson's disease can cause episodes of orthostatic hypotension due to autonomic dysfunction. (healthline.com)
  • A team led by Professor Christian Hübner from Jena University Hospital previously identified mutations in the FAM134B gene causing a very rare hereditary sensory and autonomic neuropathy (HSAN), in which sensory nerves die. (eurasiareview.com)
  • TTR protein is primarily produced in the liver and is normally a carrier of vitamin A. Mutations in the TTR gene cause abnormal amyloid proteins to accumulate and damage body organs and tissue, such as the peripheral nerves and heart, resulting in intractable peripheral sensory neuropathy, autonomic neuropathy, and/or cardiomyopathy, as well as other disease manifestations. (mpg.de)
  • The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties. (wikipedia.org)
  • Although a patient may present with symptoms related to a single portion of the autonomic system, the physician must be vigilant for other affected parts of the autonomic system. (medscape.com)
  • Symptoms such as tremor and muscle weakness may occur due to certain types of autonomic dysfunction. (healthline.com)
  • Also typical of the hereditary sensory and motor neuropathies is the predominance of motor symptoms over sensory, despite electrophysiological evidence of both motor and sensory involvement. (neuroophthalmology.ca)
  • Patisiran was shown to improve polyneuropathy with significant benefit on the neurological components of the disease in a majority of patients and to improve a composite quality of life measure, reduce autonomic symptoms, and improve activities of daily living. (mpg.de)
  • Sometimes, other autonomic symptoms may prevent prior to POTS. (symptoma.mt)
  • HSAN type 1, also known as hereditary sensory radicular neuropathy, is divided into 6 subtypes based on the gene of inheritance. (logicalimages.com)
  • Sometimes FD is referred to as Riley-Day syndrome or type III hereditary sensory and autonomic neuropathy (HSAN type III). (thedysautonomiaproject.org)
  • We report four patients from two unrelated families who developed during childhood a sensory axonal neuropathy with variable severity and pronounced nociception impairment. (univ-tours.fr)
  • Zuchner S, et al: Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (neuroophthalmology.ca)
  • Peeters K., Chamova T., Tournev I., Jordanova A. Axonal neuropathy with neuromyotonia: there is a HINT. (annaly-nevrologii.com)
  • In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
  • This suggests that, in most cases, axonal damage is the root cause of the neuropathy, not demyelination. (medscape.com)
  • Genes related to Hereditary sensory and autonomic neuropathy Type 1: Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type 1. (wikipedia.org)
  • Variants in the SCN9A gene account for approximately 30 percent of cases of small fiber neuropathy, a condition characterized by severe pain attacks and a reduced ability to differentiate between hot and cold. (medlineplus.gov)
  • A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery. (academictree.org)
  • Hereditary sensory and autonomic neuropathy type III results from mutations in the IKBKAP gene (9q31). (arizona.edu)
  • Hereditary transthyretin (TTR)-mediated amyloidosis (hATTR) is an inherited, progressively debilitating, and often fatal disease caused by mutations in the TTR gene. (mpg.de)
  • A point mutation (R100W) in the NGFB gene was found in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), which leads to pain insensitivity. (sns.it)
  • Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. (annaly-nevrologii.com)
  • HSAN III (Riley-Day syndrome) is autosomal recessive in Ashkenazi Jews, with early childhood onset of autonomic crises. (medscape.com)
  • After age 3, most children develop autonomic crises. (mountsinai.org)
  • [ 4 ] During physical and emotional stress, plasma norepinephrine and dopamine are elevated and autonomic storms or "crises" may develop. (medscape.com)
  • HSAN I has an autosomal dominant inheritance, and the disease is characterized by distal limb involvement with marked sensory loss, including loss of pain sensation, making affected individuals more susceptible to injury. (medscape.com)
  • Type I features autosomal dominant inheritance and distal sensory involvement. (bvsalud.org)
  • Type II is characterized by autosomal inheritance and distal and proximal sensory loss. (bvsalud.org)
  • Patients with HSAN V present with pain insensitivity and preservation of other sensory modalities. (medscape.com)
  • therefore, autonomic dysfunction may manifest with numerous clinical phenotypes and various laboratory and neurophysiologic abnormalities. (medscape.com)
  • A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans. (academictree.org)
  • 2015), although this value varies between populations, being particularly lower in regions with a high prevalence of recessive hereditary forms. (healthincode.com)
  • Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. (nih.gov)
  • Hereditary sensory and autonomic neuropathies (HSANs) are inherited peripheral neuropathies with variable expressivity often presenting in childhood and early adulthood. (logicalimages.com)
  • Familial amyloid polyneuropathy, the hereditary sensory autonomic neuropathies, Fabry disease, and the porphyrias are genetic diseases in which autonomic neuropathy is a common feature. (medscape.com)
  • Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero-mutilating complications. (univ-tours.fr)
  • Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). (wikipedia.org)
  • Albeit rarely, people with hereditary sensory neuropathy type 1 may develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). (wikipedia.org)
  • This gradual destruction of nerve cells results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type 1. (wikipedia.org)
  • In some forms, the degree and type of autonomic system involvement varies extensively. (medscape.com)
  • Hereditary Sensory and Autonomic Neuropathy Type I (HSAN I)." Syndromes: Rapid Recognition and Perioperative Implications, 2e Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & Engelhardt T(Eds. (mhmedical.com)
  • Voo I, et al: Hereditary motor and sensory neuropathy type VI with optic atrophy. (neuroophthalmology.ca)
  • Acute type includes the acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria. (medscape.com)
  • Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. (wikipedia.org)
  • Diabetes and Parkinson's disease are two examples of chronic conditions that can lead to autonomic dysfunction. (healthline.com)
  • With disease progression, loss of these sensory corpuscles occurs. (mhmedical.com)
  • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. (annaly-nevrologii.com)
  • PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al. (beds.ac.uk)
  • Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. (ox.ac.uk)
  • Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. (healthincode.com)
  • A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. (bvsalud.org)
  • The acquired autonomic neuropathies may then be subsequently subdivided into primary or secondary. (medscape.com)
  • Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. (orpha.net)
  • instead sensory and motor amplitudes are markedly reduced in a symmetric and length dependent fashion. (neuroophthalmology.ca)
  • Motor examination is also important because a somatic peripheral neuropathy is frequently associated with an autonomic neuropathy. (symptoma.mt)
  • It begins in childhood with progressive weakness and sensory loss and absent deep tendon reflexes. (msdmanuals.com)
  • In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). (beds.ac.uk)
  • Students will be briefly exposed to cells and their nuclei, will discover how DNA is important to life functions, and will read informational text on inherited diseases like Hereditary Sensory Autonomic Neuropathy (HSAN) and Cystic Fibrosis. (yale.edu)
  • The pathophysiology of autonomic neuropathies is variable and depends upon the underlying medical conditions. (medscape.com)
  • They are caused by the loss of large myelinated and unmyelinated fibers leading to self-mutilation, peripheral sensory loss, and autonomic dysfunction. (logicalimages.com)
  • Inherited neuropathies in which autonomic or sensory features predominate, conditions in which the neuropathy is part of a multiple-organ disturbance, and neuropathies with specific metabolic dysfunction are not discussed. (medscape.com)
  • Sensory exam shows diminished pin and temperature sensation to above the ankles, but vibration and proprioception are normal. (neuroophthalmology.ca)
  • Decreased corneal sensation as part of the generalized neuropathy likely plays a role. (arizona.edu)
  • The United States Food and Drug Administration (FDA) approved the first-of-its-kind RNA interference (RNAi) therapeutic patisiran (Onpattro) for the treatment of the polyneuropathy of hereditary transthyretin-mediated (hATTR) amyloidosis in adults. (mpg.de)
  • RNAi Therapeutic for the treatment of the polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis in adults. (mpg.de)