Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
A subacute paralytic myeloneuropathy occurring endemically in tropical areas such as the Caribbean, Colombia, India, and Africa, as well as in the southwestern region of Japan; associated with infection by HUMAN T-CELL LEUKEMIA VIRUS I. Clinical manifestations include a slowly progressive spastic weakness of the legs, increased reflexes, Babinski signs, incontinence, and loss of vibratory and position sensation. On pathologic examination inflammatory, demyelination, and necrotic lesions may be found in the spinal cord. (Adams et al., Principles of Neurology, 6th ed, p1239)
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
A strain of PRIMATE T-LYMPHOTROPIC VIRUS 1 isolated from mature T4 cells in patients with T-lymphoproliferation malignancies. It causes adult T-cell leukemia (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED), T-cell lymphoma (LYMPHOMA, T-CELL), and is involved in mycosis fungoides, SEZARY SYNDROME and tropical spastic paraparesis (PARAPARESIS, TROPICAL SPASTIC).
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
HTLV-I (Human T-lymphotropic virus type 1) infection is a retroviral infection that primarily targets CD4+ T-cells, potentially leading to the development of adult T-cell leukemia/lymphoma and tropical spastic paraparesis/myelopathy (TSP/HAM), as well as other inflammatory diseases.
Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.
Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.
A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)
Transcriptional trans-acting proteins of the promoter elements found in the long terminal repeats (LTR) of HUMAN T-LYMPHOTROPIC VIRUS 1 and HUMAN T-LYMPHOTROPIC VIRUS 2. The tax (trans-activator x; x is undefined) proteins act by binding to enhancer elements in the LTR.
Antibodies reactive with the HTLV-I ANTIGENS.
Duplex DNA sequences in eukaryotic chromosomes, corresponding to the genome of a virus, that are transmitted from one cell generation to the next without causing lysis of the host. Proviruses are often associated with neoplastic cell transformation and are key features of retrovirus biology.
A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY.
A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.
The condition of harboring an infective organism without manifesting symptoms of infection. The organism must be readily transmissible to another susceptible host.
A surgical procedure that entails removing all (laminectomy) or part (laminotomy) of selected vertebral lamina to relieve pressure on the SPINAL CORD and/or SPINAL NERVE ROOTS. Vertebral lamina is the thin flattened posterior wall of vertebral arch that forms the vertebral foramen through which pass the spinal cord and nerve roots.
Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue.
Skin diseases caused by viruses.
A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.
A group of twelve VERTEBRAE connected to the ribs that support the upper trunk region.
Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.
DNA sequences that form the coding region for at least three proteins which regulate the expression of HUMAN T-LYMPHOTROPIC VIRUS 1 and HUMAN T-LYMPHOTROPIC VIRUS 2. The proteins are p21(x), p27(rex), and p40(tax). The tax (trans-activator x) and rex (regulator x) genes are part of pX but are in overlapping reading frames. X was the original designation for the sequences or region (at that time of unknown function) in the long open reading frame (lor) which is now called pX.
Space between the dura mater and the walls of the vertebral canal.
The paired bands of yellow elastic tissue that connect adjoining laminae of the vertebrae. With the laminae, it forms the posterior wall of the spinal canal and helps hold the body erect.
An island in the Lesser Antilles, one of the Windward Islands. Its capital is Fort-de-France. It was discovered by Columbus in 1502 and from its settlement in 1635 by the French it passed into and out of Dutch and British hands. It was made a French overseas department in 1946. One account of the name tells of native women on the shore calling "Madinina" as Columbus approached the island. The meaning was never discovered but was entered on early charts as Martinique, influenced by the name of St. Martin. (From Webster's New Geographical Dictionary, 1988, p734 & Room, Brewer's Dictionary of Names, 1992, p339)
Antibodies reactive with various types of human T-cell leukemia/lymphoma antigens or bovine leukemia virus antigens.
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.
A surgical operation for the relief of pressure in a body compartment or on a body part. (From Dorland, 28th ed)
A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)
Plantar declination of the foot.
Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots.
A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.
An island in the Greater Antilles in the West Indies. Its capital is Kingston. It was discovered in 1494 by Columbus and was a Spanish colony 1509-1655 until captured by the English. Its flourishing slave trade was abolished in the 19th century. It was a British colony 1655-1958 and a territory of the West Indies Federation 1958-62. It achieved full independence in 1962. The name is from the Arawak Xaymaca, rich in springs or land of springs. (From Webster's New Geographical Dictionary, 1988, p564 & Room, Brewer's Dictionary of Names, 1992, p267)
A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.
A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). "General paresis" and "general paralysis" may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS.
Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.
A plant genus of the family EUPHORBIACEAE that is perennial with conspicuous, almost palmate leaves like those of RICINUS but more deeply parted into five to nine lobes. It is a source of a starch after removal of the cyanogenic glucosides. The common name of Arrowroot is also used with Maranta (MARANTACEAE). The common name of yuca is also used for YUCCA.
Inflammation of the spinal cord. Relatively common etiologies include infections; AUTOIMMUNE DISEASES; SPINAL CORD; and ischemia (see also SPINAL CORD VASCULAR DISEASES). Clinical features generally include weakness, sensory loss, localized pain, incontinence, and other signs of autonomic dysfunction.
Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).
HTLV-II (Human T-lymphotropic virus type II) infections are chronic viral infections primarily involving the CD4+ T lymphocytes, which can lead to adult T-cell leukemia/lymphoma, myelopathy/tropical spastic paraparesis, and other inflammatory diseases, but with a lower prevalence and geographical distribution compared to HTLV-I.
Antigens associated with the DELTARETROVIRUS; HTLV-I ANTIGENS and HTLV-II ANTIGENS belong to this group.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body.
An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.
A pteridine derivative present in body fluids; elevated levels result from immune system activation, malignant disease, allograft rejection, and viral infections. (From Stedman, 26th ed) Neopterin also serves as a precursor in the biosynthesis of biopterin.
Spasm of the large- or medium-sized coronary arteries.
Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)
The quantity of measurable virus in a body fluid. Change in viral load, measured in plasma, is sometimes used as a SURROGATE MARKER in disease progression.
Antigens associated with HUMAN T-LYMPHOTROPIC VIRUS 1.
An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity.
Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia).
One of three principal openings in the SUBARACHNOID SPACE. They are also known as cerebellomedullary cistern, and collectively as cisterns.
Subdural hematoma of the SPINAL CANAL.
A strain of PRIMATE T-LYMPHOTROPIC VIRUS 2 that can transform normal T-lymphocytes and can replicate in both T- and B-cell lines. The virus is related to but distinct from HTLV-1.
The development of bony substance in normally soft structures.
Mature LYMPHOCYTES and MONOCYTES transported by the blood to the body's extravascular space. They are morphologically distinguishable from mature granulocytic leukocytes by their large, non-lobed nuclei and lack of coarse, heavily stained cytoplasmic granules.
Drugs used for their actions on skeletal muscle. Included are agents that act directly on skeletal muscle, those that alter neuromuscular transmission (NEUROMUSCULAR BLOCKING AGENTS), and drugs that act centrally as skeletal muscle relaxants (MUSCLE RELAXANTS, CENTRAL). Drugs used in the treatment of movement disorders are ANTI-DYSKINESIA AGENTS.
Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
A serotype of botulinum toxins that has specificity for cleavage of SYNAPTOSOMAL-ASSOCIATED PROTEIN 25.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A tumor-like mass resulting from the enlargement of a tuberculous lesion.
X-ray visualization of the spinal cord following injection of contrast medium into the spinal arachnoid space.
The lower part of the SPINAL CORD consisting of the lumbar, sacral, and coccygeal nerve roots.
The outermost of the three MENINGES, a fibrous membrane of connective tissue that covers the brain and the spinal cord.
The cavity within the SPINAL COLUMN through which the SPINAL CORD passes.
Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs.
Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES.
Post-transcriptional regulatory proteins required for the accumulation of mRNAs that encode the gag and env gene products in HUMAN T-LYMPHOTROPIC VIRUS 1 and HUMAN T-LYMPHOTROPIC VIRUS 2. The rex (regulator x; x is undefined) products act by binding to elements in the LONG TERMINAL REPEAT.
'Spinal diseases' is a broad term referring to various medical conditions that affect the structural integrity, function, or health of the spinal column, including degenerative disorders, infections, inflammatory processes, traumatic injuries, neoplasms, and congenital abnormalities.
Spinal neoplasms are abnormal growths or tumors that develop within the spinal column, which can be benign or malignant, and originate from cells within the spinal structure or spread to the spine from other parts of the body (metastatic).
Deoxyribonucleic acid that makes up the genetic material of viruses.
Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)
Manner or style of walking.
Aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the intima and media causes luminal occlusion. Dissection at the media, or between the media and the outer adventitia causes aneurismal dilation.
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Surgery performed on the nervous system or its parts.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Genes that influence the PHENOTYPE only in the homozygous state.
A watery fluid that is continuously produced in the CHOROID PLEXUS and circulates around the surface of the BRAIN; SPINAL CORD; and in the CEREBRAL VENTRICLES.
Retroviral proteins that have the ability to transform cells. They can induce sarcomas, leukemias, lymphomas, and mammary carcinomas. Not all retroviral proteins are oncogenic.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Reflex contraction of a muscle in response to stretching, which stimulates muscle proprioceptors.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
The first seven VERTEBRAE of the SPINAL COLUMN, which correspond to the VERTEBRAE of the NECK.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
The joint that is formed by the inferior articular and malleolar articular surfaces of the TIBIA; the malleolar articular surface of the FIBULA; and the medial malleolar, lateral malleolar, and superior surfaces of the TALUS.
An adaptor protein complex involved in transport of molecules between the TRANS-GOLGI NETWORK and the endosomal-lysosomal system.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. (1/37)

BACKGROUND: Hereditary spastic paraparesis is a genetically heterogeneous condition. Recently, mutations in the spastin gene were reported in families linked to the common SPG4 locus on chromosome 2p21-22. OBJECTIVES: To study a population of patients with hereditary spastic paraparesis for mutations in the spastin gene (SPG4) on chromosome 2p21-22. METHODS: DNA from 32 patients (12 from families known to be linked to SPG4) was analysed for mutations in the spastin gene by single strand conformational polymorphism analysis and sequencing. All patients were also examined clinically. RESULTS: Thirteen SPG4 mutations were identified, 11 of which are novel. These mutations include missense, nonsense, frameshift, and splice site mutations, the majority of which affect the AAA cassette. We also describe a nucleotide substitution outside this conserved region which appears to behave as a recessive mutation. CONCLUSIONS: Recurrent mutations in the spastin gene are uncommon. This reduces the ease of mutation detection as a part of the diagnostic work up of patients with hereditary spastic paraparesis. Our findings have important implications for the presumed function of spastin and schemes for mutation detection in HSP patients.  (+info)

Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. (2/37)

Progressive myelopathy is a rare complication of chronic hepatic disease which has never been reported in the paediatric age group. We describe the 11 year course of an adolescent male with hepatic myelopathy caused by cryptogenic micronodular cirrhosis. His condition has been associated with persistent polycythaemia and extraordinary increases of whole blood manganese, with magnetic resonance imaging evidence of manganese deposition within the basal ganglia and other regions of the brain. The patient has developed neither liver failure nor parkinsonism. The pathophysiological bases of this multiorgan system disorder are described.  (+info)

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. (3/37)

We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she has developed a progressive spastic paraparesis associated with ophthalmoparesis and moderate mental retardation. The presence of severe lactic acidosis and Leigh-like lesions of putamina prompted us to perform muscle and skin biopsies. In both, a profound, isolated defect of COX was found by histochemical and biochemical assays. Sequence analysis of muscle mtDNA resulted in the identification of a virtually homoplasmic frameshift mutation in the COIII gene, due to the insertion of an extra C at nucleotide position 9537 of mtDNA. Although the 9537C(ins) does not impair transcription of COIII, no full-length COX III protein was detected in mtDNA translation assays in vivo. Western blot analysis of two-dimensional blue-native electrophoresis showed a reduction of specific crossreacting material and the accumulation of early-assembly intermediates of COX, whereas the fully assembled complex was absent. One of these intermediates had an electrophoretic mobility different from those seen in controls, suggesting the presence of a qualitative abnormality of COX assembly. Immunostaining with specific antibodies failed to detect the presence of several smaller subunits in the complex lacking COX III, in spite of the demonstration that these subunits were present in the crude mitochondrial fraction of patient's cultured fibroblasts. Taken together, the data indicate a role for COX III in the incorporation and maintenance of smaller COX subunits within the complex.  (+info)

Intramedullary cysticercosis : MRI diagnosis. (4/37)

Three cases of dorsal intramedullary cysticercosis presenting as spastic paraparesis or paraplegia are reported. A definite preoperative diagnosis, using MRI, was made in two cases while in the third it was strongly suspected. One paraplegic patient regained full function whereas in the other two the deficit persisted even after successful cyst excision. The pathogenesis and recovery are discussed in the light of the MRI findings.  (+info)

Intramedullary enterogenous cyst presenting with spastic paraparesis during two consecutive pregnancies: a case report. (5/37)

A 35 year old woman presented with two episodes of spastic paraparesis, occurring in the third trimester of two consecutive pregnancies. The neurological symptoms seemed to be caused by an intramedullary cyst in the thoracic spinal cord. The cyst was subtotally removed and histopathologically diagnosed as enterogenous cyst. Other congenital abnormalities were absent. The peculiar timing of the clinical manifestation of an intramedullary cyst has not been described before. An unequivocal explanation for this phenomenon is missing, but several factors related to pregnancy that may play a part are discussed.  (+info)

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. (6/37)

Hereditary spastic paraparesis (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterised by progressive lower limb spasticity and weakness. Some forms have been associated with white matter lesions and complex phenotypes. This study was prompted by the diagnosis of multiple sclerosis (MS) in two sisters from a large pedigree with hereditary spastic paraparesis. Twelve affected members of the extended family were examined (MRI and EEG were carried out and evoked potentials measured in five), and historical information was obtained from six affected deceased persons. The inherited disease phenotype was confirmed as autosomal dominant hereditary spastic paraparesis associated with epilepsy in four affected persons. None of the extended family had evidence of MS. Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10. This kindred demonstrates the clinical heterogeneity of HSP associated with spastin mutations. The possible relevance of the concurrence of HSP and MS in the sib pair is discussed.  (+info)

Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. (7/37)

A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketonuria. A protein restricted diet was associated with improvement in her condition. Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood.  (+info)

Human herpesvirus-7 infection of the CNS with acute myelitis in an adult bone marrow recipient. (8/37)

The beta-herpesviruses, human herpesviruses-6 and -7 (HHV-6 and HHV-7), are closely related and have very similar biological behaviour. While HHV-6 is associated with encephalitis in immunosuppressed adults, HHV-7 is not recognised as a cause of neurological disease in such patients. This report describes the identification of a reactivated HHV-7 infection in the cerebrospinal fluid of an adult who presented with an acute myelitis 11 months after unrelated donor bone marrow transplant.  (+info)

Paraparesis is a medical term that refers to a mild to moderate form of paralysis affecting the lower limbs, specifically the legs. It is characterized by partial loss of strength and mobility, which may result in difficulty walking or maintaining balance. Paraparesis can be caused by various conditions such as spinal cord injuries, multiple sclerosis, spina bifida, or other neurological disorders affecting the spinal cord.

The term "para" means "two," and "paresis" comes from the Greek word "paresis," which means "loosening" or "relaxation." Therefore, paraparesis implies weakness or partial paralysis in two lower extremities. It is important to note that while paraparesis can impact a person's ability to walk and perform daily activities, it does not necessarily lead to complete loss of movement or sensation in the affected limbs.

Proper diagnosis and management of the underlying cause are crucial for improving symptoms and preventing further progression of paraparesis. Treatment options may include physical therapy, medications, assistive devices, or surgical interventions depending on the specific condition causing the paraparesis.

Paraparesis, spastic type, is a medical term used to describe a condition characterized by partial weakness or loss of voluntary movement in the lower extremities (legs). The term "paraparesis" comes from Greek words "para" meaning beside or beyond, and "paresis" meaning loosening or relaxation.

In spastic paraparesis, the muscle tone is increased, causing stiffness and resistance to movement, particularly during quick or forceful movements. This increased muscle tone, also known as spasticity, results from an upper motor neuron lesion in the brain or spinal cord that affects the corticospinal tract, which carries signals from the brain to the muscles.

Spastic paraparesis can be caused by various conditions, including spinal cord injuries, multiple sclerosis, hereditary spastic paraplegia, and stroke, among others. The severity of symptoms may vary widely, ranging from mild weakness to complete paralysis. Treatment options for spastic paraparesis depend on the underlying cause and may include physical therapy, medications, surgery, or a combination of these approaches.

Tropical spastic paraparesis (TSP) is a type of myelopathy (spinal cord disorder) that is associated with chronic infectious or inflammatory conditions. The term "paraparesis" refers to partial weakness in the lower extremities, which is a characteristic feature of TSP.

In Tropical spastic paraparesis, there is a slow and progressive degeneration of the spinal cord, leading to symptoms such as muscle weakness, stiffness, and spasticity (involuntary muscle contractions) in the legs. Other common symptoms include sensory loss, bladder and bowel dysfunction, and sexual impairment.

TSP is often caused by a chronic infection with the human T-lymphotropic virus type 1 (HTLV-1), which is endemic in certain tropical and subtropical regions, including the Caribbean, South America, Central America, Africa, and parts of Asia. The virus is transmitted through blood transfusions, sexual contact, and breastfeeding.

There is no cure for TSP, but symptoms can be managed with physical therapy, medications to relieve muscle spasticity, and other supportive measures. It is important to diagnose and treat TSP early to prevent or slow down the progression of the disease and improve quality of life.

Hereditary Spastic Paraplegia (HSP) is a group of genetic disorders that affect the long motor neurons in the spinal cord, leading to lower limb spasticity and weakness. It is characterized by progressive stiffness and contraction of the leg muscles, resulting in difficulty with walking and balance.

The symptoms of HSP typically begin in childhood or early adulthood and worsen over time. The severity of the condition can vary widely, even within the same family, depending on the specific genetic mutation involved. In addition to lower limb spasticity, some individuals with HSP may also experience bladder dysfunction, sensory loss, or other neurological symptoms.

HSP is inherited in an autosomal dominant or autosomal recessive pattern, depending on the specific genetic mutation involved. There are over 70 different genes that have been identified as causing HSP, and genetic testing can be used to confirm the diagnosis and identify the specific genetic mutation responsible.

Treatment for HSP is focused on managing symptoms and maintaining mobility. Physical therapy, orthotics, and medications such as baclofen or tizanidine may be used to help reduce muscle spasticity and improve mobility. In some cases, surgery may be necessary to relieve muscle contractures or other complications.

Human T-lymphotropic virus 1 (HTLV-1) is a complex retrovirus that infects CD4+ T lymphocytes and can cause adult T-cell leukemia/lymphoma (ATLL) and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). The virus is primarily transmitted through breastfeeding, sexual contact, or contaminated blood products. After infection, the virus integrates into the host's genome and can remain latent for years or even decades before leading to disease. HTLV-1 is endemic in certain regions of the world, including Japan, the Caribbean, Central and South America, and parts of Africa.

Muscle spasticity is a motor disorder characterized by an involuntary increase in muscle tone, leading to stiffness and difficulty in moving muscles. It is often seen in people with damage to the brain or spinal cord, such as those with cerebral palsy, multiple sclerosis, or spinal cord injuries.

In muscle spasticity, the muscles may contract excessively, causing rigid limbs, awkward movements, and abnormal postures. The severity of muscle spasticity can vary from mild stiffness to severe contractures that limit mobility and function.

Muscle spasticity is caused by an imbalance between excitatory and inhibitory signals in the central nervous system, leading to overactivity of the alpha motor neurons that control muscle contraction. This can result in hyperreflexia (overactive reflexes), clonus (rapid, rhythmic muscle contractions), and flexor or extensor spasms.

Effective management of muscle spasticity may involve a combination of physical therapy, medication, surgery, or other interventions to improve function, reduce pain, and prevent complications such as contractures and pressure sores.

HTLV-I (Human T-lymphotropic virus type 1) infection is a viral infection that attacks the CD4+ T-cells (a type of white blood cell) and can lead to the development of various diseases, including Adult T-cell Leukemia/Lymphoma (ATLL) and HTLV-I Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP). The virus is primarily transmitted through breastfeeding, sexual contact, or contaminated blood products. After infection, the virus becomes integrated into the host's DNA and can remain dormant for years, even decades, before leading to the development of disease. Most people infected with HTLV-I do not develop any symptoms, but a small percentage will go on to develop serious complications.

Paraplegia is a medical condition characterized by partial or complete loss of motor function and sensation in the lower extremities, typically affecting both legs. This results from damage to the spinal cord, often due to trauma such as accidents, falls, or gunshot wounds, or from diseases like spina bifida, polio, or tumors. The specific area and extent of the injury on the spinal cord determine the severity and location of paralysis. Individuals with paraplegia may require assistive devices for mobility, such as wheelchairs, and may face various health challenges, including pressure sores, urinary tract infections, and chronic pain.

Spinal cord diseases refer to a group of conditions that affect the spinal cord, which is a part of the central nervous system responsible for transmitting messages between the brain and the rest of the body. These diseases can cause damage to the spinal cord, leading to various symptoms such as muscle weakness, numbness, pain, bladder and bowel dysfunction, and difficulty with movement and coordination.

Spinal cord diseases can be congenital or acquired, and they can result from a variety of causes, including infections, injuries, tumors, degenerative conditions, autoimmune disorders, and genetic factors. Some examples of spinal cord diseases include multiple sclerosis, spina bifida, spinal cord injury, herniated discs, spinal stenosis, and motor neuron diseases such as amyotrophic lateral sclerosis (ALS).

The treatment for spinal cord diseases varies depending on the underlying cause and severity of the condition. Treatment options may include medication, physical therapy, surgery, and rehabilitation. In some cases, the damage to the spinal cord may be irreversible, leading to permanent disability or paralysis.

Cerebral palsy (CP) is a group of disorders that affect a person's ability to move and maintain balance and posture. According to the Mayo Clinic, CP is caused by abnormal brain development or damage to the developing brain that affects a child's ability to control movement.

The symptoms of cerebral palsy can vary in severity and may include:

* Spasticity (stiff or tight muscles)
* Rigidity (resistance to passive movement)
* Poor coordination and balance
* Weakness or paralysis
* Tremors or involuntary movements
* Abnormal gait or difficulty walking
* Difficulty with fine motor skills, such as writing or using utensils
* Speech and language difficulties
* Vision, hearing, or swallowing problems

It's important to note that cerebral palsy is not a progressive condition, meaning that it does not worsen over time. However, the symptoms may change over time, and some individuals with CP may experience additional medical conditions as they age.

Cerebral palsy is usually caused by brain damage that occurs before or during birth, but it can also be caused by brain injuries that occur in the first few years of life. Some possible causes of cerebral palsy include:

* Infections during pregnancy
* Lack of oxygen to the brain during delivery
* Traumatic head injury during birth
* Brain bleeding or stroke in the newborn period
* Genetic disorders
* Maternal illness or infection during pregnancy

There is no cure for cerebral palsy, but early intervention and treatment can help improve outcomes and quality of life. Treatment may include physical therapy, occupational therapy, speech therapy, medications to manage symptoms, surgery, and assistive devices such as braces or wheelchairs.

A gene product is the biochemical material, such as a protein or RNA, that is produced by the expression of a gene. Gene products are the result of the translation and transcription of genetic information encoded in DNA or RNA.

In the context of "tax," this term is not typically used in a medical definition of gene products. However, it may refer to the concept of taxing or regulating gene products in the context of genetic engineering or synthetic biology. This could involve imposing fees or restrictions on the production, use, or sale of certain gene products, particularly those that are genetically modified or engineered. The regulation of gene products is an important aspect of ensuring their safe and effective use in various applications, including medical treatments, agricultural production, and industrial processes.

HTLV-I antibodies are proteins produced by the immune system in response to the presence of Human T-cell Leukemia Virus type I (HTLV-I) antigens. These antibodies indicate a past or present infection with HTLV-I, which is a retrovirus that can cause adult T-cell leukemia/lymphoma and tropical spastic paraparesis/myelopathy. Detection of HTLV-I antibodies in the blood is typically done through serological tests such as ELISA and Western blot.

A provirus is a form of the genetic material of a retrovirus that is integrated into the DNA of the host cell it has infected. Once integrated, the provirus is replicated along with the host's own DNA every time the cell divides, and it becomes a permanent part of the host's genome.

The process of integration involves the reverse transcription of the retroviral RNA genome into DNA by the enzyme reverse transcriptase, followed by the integration of the resulting double-stranded proviral DNA into the host chromosome by the enzyme integrase.

Proviruses can remain dormant and inactive for long periods of time, or they can become active and produce new viral particles that can infect other cells. In some cases, proviruses can also disrupt the normal functioning of host genes, leading to various diseases such as cancer.

An epidural spinal hematoma is a rare but potentially serious medical condition characterized by the accumulation of blood in the epidural space of the spinal canal. The epidural space is the outermost layer of the spinal canal and it contains fat, blood vessels, and nerve roots.

In an epidural spinal hematoma, blood collects in this space, often as a result of trauma or injury to the spine, or due to complications from medical procedures such as spinal taps or epidural anesthesia. The buildup of blood can put pressure on the spinal cord and nerves, leading to symptoms such as back pain, muscle weakness, numbness, or paralysis below the level of the hematoma.

Epidural spinal hematomas require immediate medical attention and may necessitate surgical intervention to relieve the pressure on the spinal cord and prevent further nerve damage. Risk factors for developing an epidural spinal hematoma include bleeding disorders, anticoagulant medication use, and spinal trauma or surgery.

The Babinski reflex, also known as the plantar reflex, is a physiological response that originates from the spinal cord when the sole of the foot is stimulated. It is named after Joseph François Felix Babinski, a French neurologist who described it in 1896.

In a normal, healthy adult, this stimulation typically results in the downward flexion of the big toe and the fanning out of the other toes. However, in infants and young children, as well as in some individuals with certain neurological conditions, the opposite response may occur - the big toe extends upward (dorsiflexes) while the other toes fan out. This is known as the Babinski reflex and can be a sign of damage to the brain or spinal cord, particularly to the nerve pathways that run from the cortex to the spinal cord.

It's important to note that the presence of an extensor plantar response (Babinski reflex) in adults is considered abnormal and may indicate a neurological disorder such as a brain injury, spinal cord injury, multiple sclerosis, or motor neuron disease. However, it's worth mentioning that certain medications, intoxication, or temporary conditions like sleep deprivation can also cause an abnormal plantar response, so further evaluation is necessary to confirm any diagnosis.

A carrier state is a condition in which a person carries and may be able to transmit a genetic disorder or infectious disease, but does not show any symptoms of the disease themselves. This occurs when an individual has a recessive allele for a genetic disorder or is infected with a pathogen, but does not have the necessary combination of genes or other factors required to develop the full-blown disease.

For example, in the case of cystic fibrosis, which is caused by mutations in the CFTR gene, a person who carries one normal allele and one mutated allele for the disease is considered a carrier. They do not have symptoms of cystic fibrosis themselves, but they can pass the mutated allele on to their offspring, who may then develop the disease if they inherit the mutation from both parents.

Similarly, in the case of infectious diseases, a person who is infected with a pathogen but does not show any symptoms may still be able to transmit the infection to others. This is known as being an asymptomatic carrier or a healthy carrier. For example, some people who are infected with hepatitis B virus (HBV) may not develop any symptoms of liver disease, but they can still transmit the virus to others through contact with their blood or other bodily fluids.

It's important to note that in some cases, carriers of certain genetic disorders or infectious diseases may have mild or atypical symptoms that do not meet the full criteria for a diagnosis of the disease. In these cases, they may be considered to have a "reduced penetrance" or "incomplete expression" of the disorder or infection.

A laminectomy is a surgical procedure that involves the removal of the lamina, which is the back part of the vertebra that covers the spinal canal. This procedure is often performed to relieve pressure on the spinal cord or nerves caused by conditions such as herniated discs, spinal stenosis, or tumors. By removing the lamina, the surgeon can access the affected area and alleviate the compression on the spinal cord or nerves, thereby reducing pain, numbness, or weakness in the back, legs, or arms.

Laminectomy may be performed as a standalone procedure or in combination with other surgical techniques such as discectomy, foraminotomy, or spinal fusion. The specific approach and extent of the surgery will depend on the patient's individual condition and symptoms.

Spinal cord ischemia refers to a reduction or interruption of blood flow to the spinal cord, leading to insufficient oxygen and nutrient supply. This condition can cause damage to the spinal cord tissue, potentially resulting in neurological deficits, such as muscle weakness, sensory loss, or autonomic dysfunction. Spinal cord ischemia may be caused by various factors, including atherosclerosis, embolism, spinal artery stenosis, or complications during surgery. The severity and extent of the neurological impairment depend on the duration and location of the ischemic event in the spinal cord.

Skin diseases of viral origin are conditions that affect the skin caused by viral infections. These infections can lead to various symptoms such as rashes, blisters, papules, and skin lesions. Some common examples of viral skin diseases include:

1. Herpes Simplex Virus (HSV) infection: This causes cold sores or genital herpes, which are characterized by small, painful blisters on the skin.
2. Varicella-zoster virus (VZV) infection: This causes chickenpox and shingles, which are characterized by itchy, fluid-filled blisters on the skin.
3. Human Papillomavirus (HPV) infection: This causes warts, which are small, rough growths on the skin.
4. Molluscum contagiosum: This is a viral infection that causes small, raised, and pearly white bumps on the skin.
5. Measles: This is a highly contagious viral disease characterized by fever, cough, runny nose, and a rash that spreads all over the body.
6. Rubella: Also known as German measles, this viral infection causes a red rash on the face and neck that spreads to the rest of the body.

Viral skin diseases can be spread through direct contact with an infected person or contaminated objects, such as towels or bedding. Some viral skin diseases can be prevented through vaccination, while others can be treated with antiviral medications or other therapies.

Paralysis is a loss of muscle function in part or all of your body. It can be localized, affecting only one specific area, or generalized, impacting multiple areas or even the entire body. Paralysis often occurs when something goes wrong with the way messages pass between your brain and muscles. In most cases, paralysis is caused by damage to the nervous system, especially the spinal cord. Other causes include stroke, trauma, infections, and various neurological disorders.

It's important to note that paralysis doesn't always mean a total loss of movement or feeling. Sometimes, it may just cause weakness or numbness in the affected area. The severity and extent of paralysis depend on the underlying cause and the location of the damage in the nervous system.

Adult T-cell Leukemia/Lymphoma (ATLL) is a rare and aggressive type of cancer that affects the circulating white blood cells called T-lymphocytes or T-cells. It is caused by the human T-cell leukemia virus type 1 (HTLV-1), which infects CD4+ T-cells and leads to their malignant transformation. The disease can present as either acute or chronic leukemia, or as lymphoma, depending on the clinical features and laboratory findings.

The acute form of ATLL is characterized by the rapid proliferation of abnormal T-cells in the blood, bone marrow, and other organs. Patients with acute ATLL typically have a poor prognosis, with a median survival of only a few months. Symptoms may include skin rashes, lymphadenopathy (swollen lymph nodes), hepatosplenomegaly (enlarged liver and spleen), and hypercalcemia (high levels of calcium in the blood).

The chronic form of ATLL is less aggressive than the acute form, but it can still lead to serious complications. Chronic ATLL is characterized by the accumulation of abnormal T-cells in the blood and lymph nodes, as well as skin lesions and hypercalcemia. The median survival for patients with chronic ATLL is around two years.

ATLL can also present as a lymphoma, which is characterized by the proliferation of abnormal T-cells in the lymph nodes, spleen, and other organs. Lymphoma may occur in isolation or in combination with leukemic features.

The diagnosis of ATLL is based on clinical findings, laboratory tests, and the detection of HTLV-1 antibodies or proviral DNA in the blood or tissue samples. Treatment options for ATLL include chemotherapy, antiretroviral therapy, immunotherapy, and stem cell transplantation. The choice of treatment depends on several factors, including the patient's age, overall health, and the stage and type of ATLL.

The thoracic vertebrae are the 12 vertebrae in the thoracic region of the spine, which is the portion between the cervical and lumbar regions. These vertebrae are numbered T1 to T12, with T1 being closest to the skull and T12 connecting to the lumbar region.

The main function of the thoracic vertebrae is to provide stability and support for the chest region, including protection for the vital organs within, such as the heart and lungs. Each thoracic vertebra has costal facets on its sides, which articulate with the heads of the ribs, forming the costovertebral joints. This connection between the spine and the ribcage allows for a range of movements while maintaining stability.

The thoracic vertebrae have a unique structure compared to other regions of the spine. They are characterized by having long, narrow bodies, small bony processes, and prominent spinous processes that point downwards. This particular shape and orientation of the thoracic vertebrae contribute to their role in limiting excessive spinal movement and providing overall trunk stability.

Spinal cord compression is a medical condition that refers to the narrowing of the spinal canal, which puts pressure on the spinal cord and the nerves that branch out from it. This can occur due to various reasons such as degenerative changes in the spine, herniated discs, bone spurs, tumors, or fractures. The compression can lead to a range of symptoms including pain, numbness, tingling, weakness, or loss of bladder and bowel control. In severe cases, it can cause paralysis. Treatment options depend on the underlying cause and may include physical therapy, medication, surgery, or radiation therapy.

I'm sorry for the confusion, but "pX" is not a standard term in genetics or genomic medicine. It may be a typo or a specific shorthand used in certain contexts. If you could provide more context or clarify what "pX" is intended to represent, I would be happy to help further.

In general, genes are segments of DNA that contain the instructions for making proteins or RNA molecules. These instructions are encoded in a genetic alphabet consisting of four nucleotide bases: adenine (A), guanine (G), cytosine (C), and thymine (T). The sequence of these bases determines the genetic information within a gene, which can vary among individuals and contribute to differences in traits and disease susceptibility.

The epidural space is the potential space located outside the dura mater, which is the outermost of the three membranes covering the brain and spinal cord (the meninges). This space runs the entire length of the spinal canal and contains fatty tissue, blood vessels, and nerve roots. It is often used as a route for administering anesthesia during childbirth or surgery, as well as for pain management in certain medical conditions. The injection of medications into this space is called an epidural block.

The ligamentum flavum is a pair of elastic bands of tissue located in the spine. They connect the laminae, which are parts of the vertebral arch, from one vertebra to the next in the spine. These ligaments help maintain the stability and alignment of the vertebral column, allowing for a limited range of movement while preventing excessive motion that could cause injury. The elasticity of the ligamentum flavum also facilitates the return of the spinal column to its normal position after flexion.

These ligaments are named "flavum" because they have a yellowish color due to their high elastin content. They play an essential role in protecting the spinal cord and nerve roots from damage during movements of the spine. Any degeneration, thickening, or calcification of the ligamentum flavum may lead to conditions such as spinal stenosis, which can cause pain, numbness, or weakness in the back, legs, or arms.

I'm sorry for any confusion, but "Martinique" is not a medical term. It is actually the name of an island located in the Lesser Antilles in the eastern Caribbean Sea, which is a part of France. Therefore, it does not have a medical definition. If you have any questions related to medicine or health, I would be happy to try and help answer them!

Deltaretroviruses are a genus of retroviruses that include human T-lymphotropic virus (HTLV) types 1 and 2, bovine leukemia virus (BLV), and simian T-lymphotropic viruses. Antibodies against deltaretroviruses are proteins produced by the immune system in response to an infection with one of these viruses.

Antibodies are formed when the immune system recognizes a foreign substance, such as a virus, as harmful. The immune system then produces specific proteins called antibodies to bind to and help neutralize or remove the foreign substance from the body. Detection of deltaretrovirus antibodies in an individual's blood can indicate a current or past infection with one of these viruses.

It is important to note that the presence of deltaretrovirus antibodies does not necessarily mean that the person has symptoms or will develop disease related to the virus. Some people with deltaretrovirus antibodies may never develop symptoms, while others may develop serious illnesses such as adult T-cell leukemia/lymphoma (HTLV-1) or neurological disorders (HTLV-1 associated myelopathy/tropical spastic paraparesis).

If you suspect that you may have been exposed to a deltaretrovirus, it is important to speak with your healthcare provider for further evaluation and testing.

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.

Surgical decompression is a medical procedure that involves relieving pressure on a nerve or tissue by creating additional space. This is typically accomplished through the removal of a portion of bone or other tissue that is causing the compression. The goal of surgical decompression is to alleviate symptoms such as pain, numbness, tingling, or weakness caused by the compression.

In the context of spinal disorders, surgical decompression is often used to treat conditions such as herniated discs, spinal stenosis, or bone spurs that are compressing nerves in the spine. The specific procedure used may vary depending on the location and severity of the compression, but common techniques include laminectomy, discectomy, and foraminotomy.

It's important to note that surgical decompression is a significant medical intervention that carries risks such as infection, bleeding, and injury to surrounding tissues. As with any surgery, it should be considered as a last resort after other conservative treatments have been tried and found to be ineffective. A thorough evaluation by a qualified medical professional is necessary to determine whether surgical decompression is appropriate in a given case.

Brachial plexus neuritis, also known as Parsonage-Turner syndrome or neuralgic amyotrophy, is a medical condition characterized by inflammation and damage to the brachial plexus. The brachial plexus is a network of nerves that originates from the spinal cord in the neck and travels down the arm, controlling movement and sensation in the shoulder, arm, and hand.

In Brachial plexus neuritis, the insulating covering of the nerves (myelin sheath) is damaged or destroyed, leading to impaired nerve function. The exact cause of this condition is not fully understood, but it can be associated with viral infections, trauma, surgery, or immunological disorders.

Symptoms of Brachial plexus neuritis may include sudden onset of severe pain in the shoulder and arm, followed by weakness or paralysis of the affected muscles. There may also be numbness, tingling, or loss of sensation in the affected areas. In some cases, recovery can occur spontaneously within a few months, while others may experience persistent weakness or disability. Treatment typically involves pain management, physical therapy, and in some cases, corticosteroids or other medications to reduce inflammation.

Equinus deformity is a condition in which the ankle remains in a permanently plantarflexed position, meaning that the toes are pointing downward. This limitation in motion can occur in one or both feet and can be congenital (present at birth) or acquired. Acquired equinus deformity can result from conditions such as cerebral palsy, stroke, trauma, or prolonged immobilization. The limited range of motion in the ankle can cause difficulty walking, pain, and abnormalities in gait. Treatment options for equinus deformity may include physical therapy, bracing, orthotic devices, or surgery.

Polyradiculopathy is a medical term that refers to a condition affecting multiple nerve roots. It's a type of neurological disorder where there is damage or injury to the nerve roots, which are the beginning portions of nerves as they exit the spinal cord. This damage can result in various symptoms such as weakness, numbness, tingling, and pain in the affected areas of the body, depending on the specific nerves involved.

Polyradiculopathy can be caused by a variety of factors, including trauma, infection, inflammation, compression, or degenerative changes in the spine. Some common causes include spinal cord tumors, herniated discs, spinal stenosis, and autoimmune disorders such as Guillain-Barre syndrome.

Diagnosing polyradiculopathy typically involves a thorough neurological examination, imaging studies such as MRI or CT scans, and sometimes nerve conduction studies or electromyography (EMG) to assess the function of the affected nerves. Treatment for polyradiculopathy depends on the underlying cause but may include medications, physical therapy, surgery, or a combination of these approaches.

Lipomatosis is a medical term that refers to a condition characterized by the abnormal growth of fatty tumors (lipomas) in various parts of the body. These lipomas are benign, soft, and rubbery masses made up of adipose or fatty tissue. Unlike isolated lipomas, which occur as solitary lumps under the skin, lipomatosis is a more widespread condition where multiple lipomas develop in a diffuse pattern, affecting a particular region or area of the body.

There are different types of lipomatosis, including:

1. Diffuse Lipomatosis: This type involves the growth of numerous small lipomas distributed throughout the subcutaneous tissue, giving the affected area a doughy feel and appearance.
2. Adiposis Dolorosa or Dercum's Disease: A rare condition characterized by painful and tender lipomas typically found in the trunk, arms, and legs. It primarily affects middle-aged women and can be accompanied by other systemic symptoms like fatigue, memory problems, and depression.
3. Multiple Symmetric Lipomatosis (MSL) or Madelung's Disease: This condition predominantly affects middle-aged men, particularly those with a history of alcohol abuse. It is characterized by the growth of large, symmetrical lipomas around the neck, shoulders, and upper trunk, leading to a "horse collar" appearance.
4. Familial Multiple Lipomatosis: An inherited condition where multiple benign fatty tumors develop in various parts of the body, usually appearing during adulthood. It tends to run in families with an autosomal dominant pattern of inheritance.

Treatment for lipomatosis typically involves surgical removal of the lipomas if they cause discomfort, limit mobility, or negatively impact a person's appearance. Regular monitoring and follow-up appointments with healthcare professionals are essential to ensure that no malignant changes occur in the lipomas over time.

I'm sorry for any confusion, but "Jamaica" is not a medical term. It is a country located in the Caribbean Sea, known for its beautiful beaches, vibrant culture, and as the birthplace of reggae music. If you have any questions about medical terms or concepts, I would be happy to help answer those!

The spinal cord is a major part of the nervous system, extending from the brainstem and continuing down to the lower back. It is a slender, tubular bundle of nerve fibers (axons) and support cells (glial cells) that carries signals between the brain and the rest of the body. The spinal cord primarily serves as a conduit for motor information, which travels from the brain to the muscles, and sensory information, which travels from the body to the brain. It also contains neurons that can independently process and respond to information within the spinal cord without direct input from the brain.

The spinal cord is protected by the bony vertebral column (spine) and is divided into 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal. Each segment corresponds to a specific region of the body and gives rise to pairs of spinal nerves that exit through the intervertebral foramina at each level.

The spinal cord is responsible for several vital functions, including:

1. Reflexes: Simple reflex actions, such as the withdrawal reflex when touching a hot surface, are mediated by the spinal cord without involving the brain.
2. Muscle control: The spinal cord carries motor signals from the brain to the muscles, enabling voluntary movement and muscle tone regulation.
3. Sensory perception: The spinal cord transmits sensory information, such as touch, temperature, pain, and vibration, from the body to the brain for processing and awareness.
4. Autonomic functions: The sympathetic and parasympathetic divisions of the autonomic nervous system originate in the thoracolumbar and sacral regions of the spinal cord, respectively, controlling involuntary physiological responses like heart rate, blood pressure, digestion, and respiration.

Damage to the spinal cord can result in various degrees of paralysis or loss of sensation below the level of injury, depending on the severity and location of the damage.

Paresis is a medical term that refers to a partial loss of voluntary muscle function. It is often described as muscle weakness, and it can affect one or several parts of the body. Paresis can be caused by various conditions, including nerve damage, stroke, spinal cord injuries, multiple sclerosis, and infections like polio or botulism. The severity of paresis can range from mild to severe, depending on the underlying cause and the specific muscles involved. Treatment for paresis typically focuses on addressing the underlying condition causing it.

Spinal cord neoplasms refer to abnormal growths or tumors within the spinal cord. These can be benign (non-cancerous) or malignant (cancerous). They originate from the cells within the spinal cord itself (primary tumors), or they may spread to the spinal cord from other parts of the body (metastatic tumors). Spinal cord neoplasms can cause various symptoms depending on their location and size, including back pain, neurological deficits, and even paralysis. Treatment options include surgery, radiation therapy, and chemotherapy.

"Manihot" is a botanical term that refers to a genus of plants in the Euphorbiaceae family, also known as the spurge family. The most well-known species in this genus is Manihot esculenta, which is commonly called cassava or yuca. Cassava is a staple food crop in many tropical and subtropical regions of the world, providing carbohydrates and calories for millions of people.

The roots of the cassava plant are rich in starch and can be eaten after being cooked or processed to remove toxic compounds. Cassava is an important source of dietary energy in many parts of Africa, Latin America, and Asia. In addition to its use as a food crop, some species of Manihot have also been used in traditional medicine for various purposes, although more research is needed to confirm their effectiveness and safety.

Myelitis is a medical term that refers to inflammation of the spinal cord. This inflammation can cause damage to the myelin sheath, which is the protective covering of nerve fibers in the spinal cord. As a result, the transmission of nerve impulses along the spinal cord may be disrupted, leading to various neurological symptoms.

Myelitis can affect any part of the spinal cord and can have many different causes, including infections (such as viral or bacterial infections), autoimmune disorders (such as multiple sclerosis), and other conditions (such as spinal cord injuries or tumors). The specific symptoms of myelitis depend on the location and severity of the inflammation. They may include muscle weakness, numbness or tingling sensations, pain, bladder or bowel dysfunction, and difficulty with coordination and balance.

Myelitis can be a serious condition that requires prompt medical attention and treatment. Treatment typically focuses on addressing the underlying cause of the inflammation, as well as managing symptoms and supporting recovery.

Deltaretroviruses are a genus of retroviruses that can cause chronic infections in humans and animals. The two main deltaretroviruses that infect humans are the Human T-cell Leukemia Virus type 1 (HTLV-1) and Human T-cell Leukemia Virus type 2 (HTLV-2).

HTLV-1 is primarily transmitted through breastfeeding, sexual contact, and contaminated blood products. It can cause several diseases, including Adult T-cell Leukemia/Lymphoma (ATLL) and a neurological disorder called HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP).

HTLV-2 is primarily transmitted through intravenous drug use and sexual contact. While it has been associated with some diseases, such as neurological disorders and rare cases of leukemia, the link between HTLV-2 and disease is not as clear as it is for HTLV-1.

Deltaretrovirus infections can be diagnosed through blood tests that detect antibodies to the viruses or through genetic testing to detect the virus itself. There is currently no cure for deltaretrovirus infections, but antiretroviral therapy (ART) may help manage the infection and reduce the risk of transmission.

It's important to note that deltaretrovirus infections are relatively rare, and most people who are infected do not develop symptoms or disease. However, if you believe you may have been exposed to these viruses, it is important to speak with a healthcare provider for further evaluation and testing.

HTLV-II (Human T-lymphotropic virus type 2) infection is a condition caused by the retrovirus HTLV- II. This virus primarily infects CD4+ T cells and can lead to the development of several diseases, including adult T-cell leukemia/lymphoma (ATLL), a malignancy of CD4+ T cells, and tropical spastic paraparesis/HTLV-associated myelopathy (TSP/HAM), a neurological disorder characterized by progressive weakness and stiffness in the lower extremities. However, the majority of people infected with HTLV-II remain asymptomatic throughout their lives. The virus is primarily transmitted through blood transfusions, sharing of needles, sexual contact, and from mother to child during breastfeeding.

Deltaretroviruses are a genus of retroviruses that include human T-lymphotropic virus (HTLV) types 1 and 2, bovine leukemia virus (BLV), and simian T-lymphotropic viruses. These viruses are characterized by the presence of the unique region (U) in their genome, which encodes several accessory proteins, including Tax, Rex, p12, p30, and p13.

Deltaretrovirus antigens refer to the proteins expressed by these viruses that can stimulate an immune response in infected individuals. The two main antigens of deltaretroviruses are:

1. Environmental Response Factor (ERF): Also known as p12 or p13, this protein is involved in viral replication and infectivity. It has been shown to induce the production of antibodies in infected individuals.
2. Transactivator X (Tax): This protein is a potent transcriptional activator that regulates viral gene expression and host cell signaling pathways. Tax is a major target of cytotoxic T lymphocytes (CTLs) and has been implicated in the development of HTLV-associated diseases such as adult T-cell leukemia/lymphoma (ATLL) and tropical spastic paraparesis/HTLV-1 associated myelopathy (TSP/HAM).

Detection of deltaretrovirus antigens in clinical samples can be used for diagnosis, prognosis, and monitoring of HTLV and BLV infections. However, the interpretation of these assays should be done with caution, as the presence of antibodies or CTLs against these antigens does not necessarily indicate active infection or disease.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Hemiplegia is a medical term that refers to paralysis affecting one side of the body. It is typically caused by damage to the motor center of the brain, such as from a stroke, head injury, or brain tumor. The symptoms can vary in severity but often include muscle weakness, stiffness, and difficulty with coordination and balance on the affected side. In severe cases, the individual may be unable to move or feel anything on that side of the body. Hemiplegia can also affect speech, vision, and other functions controlled by the damaged area of the brain. Rehabilitation therapy is often recommended to help individuals with hemiplegia regain as much function as possible.

A thoracic aortic aneurysm is a localized dilatation or bulging of the thoracic aorta, which is the part of the aorta that runs through the chest cavity. The aorta is the largest artery in the body, and it carries oxygenated blood from the heart to the rest of the body.

Thoracic aortic aneurysms can occur anywhere along the thoracic aorta, but they are most commonly found in the aortic arch or the descending thoracic aorta. These aneurysms can vary in size, and they are considered significant when they are 50% larger than the expected normal diameter of the aorta.

The exact cause of thoracic aortic aneurysms is not fully understood, but several factors can contribute to their development, including:

* Atherosclerosis (hardening and narrowing of the arteries)
* High blood pressure
* Genetic disorders such as Marfan syndrome or Ehlers-Danlos syndrome
* Infections or inflammation of the aorta
* Trauma to the chest

Thoracic aortic aneurysms can be asymptomatic and found incidentally on imaging studies, or they may present with symptoms such as chest pain, cough, difficulty swallowing, or hoarseness. If left untreated, thoracic aortic aneurysms can lead to serious complications, including aortic dissection (tearing of the inner layer of the aorta) or rupture, which can be life-threatening.

Treatment options for thoracic aortic aneurysms include medical management with blood pressure control and cholesterol-lowering medications, as well as surgical repair or endovascular stenting, depending on the size, location, and growth rate of the aneurysm. Regular follow-up imaging is necessary to monitor the size and progression of the aneurysm over time.

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.

Neopterin is a pteridine metabolite that is primarily produced by macrophages in response to the activation of the immune system, particularly in response to interferon-gamma (IFN-γ). It is commonly used as a biomarker for cellular immune activation and inflammation. Elevated levels of neopterin have been associated with various conditions such as infections, autoimmune diseases, cancer, and transplant rejection.

Coronary vasospasm refers to a sudden constriction (narrowing) of the coronary arteries, which supply oxygenated blood to the heart muscle. This constriction can reduce or block blood flow, leading to symptoms such as chest pain (angina) or, in severe cases, a heart attack (myocardial infarction). Coronary vasospasm can occur spontaneously or be triggered by various factors, including stress, smoking, and certain medications. It is also associated with conditions such as coronary artery disease and variant angina. Prolonged or recurrent vasospasms can cause damage to the heart muscle and increase the risk of cardiovascular events.

Transverse Myelitis is a neurological disorder that involves inflammation of the spinal cord, leading to damage in both sides of the cord. This results in varying degrees of motor, sensory, and autonomic dysfunction, typically defined by the level of the spine that's affected. Symptoms may include a sudden onset of lower back pain, muscle weakness, paraesthesia or loss of sensation, and bowel/bladder dysfunction. The exact cause is often unknown but can be associated with infections, autoimmune disorders, or other underlying conditions.

Viral load refers to the amount or quantity of virus (like HIV, Hepatitis C, SARS-CoV-2) present in an individual's blood or bodily fluids. It is often expressed as the number of virus copies per milliliter of blood or fluid. Monitoring viral load is important in managing and treating certain viral infections, as a higher viral load may indicate increased infectivity, disease progression, or response to treatment.

HTLV-I (Human T-lymphotropic virus type I) antigens are proteins expressed by the HTLV-I virus, which can be detected in an infected individual's serum. The two main types of HTLV-I antigens are:

1. Core antigen (p24): This is a structural protein present in the viral core. Detection of p24 antigen in the blood indicates active viral replication.

2. Surface envelope glycoprotein (gp46): This antigen is found on the surface of the virus and plays a role in the attachment and entry of the virus into host cells.

The detection of HTLV-I antigens can be used for diagnostic purposes, particularly in serological tests such as ELISA or Western blot assays, to identify individuals who have been infected with the virus.

A spasm is a sudden, involuntary contraction or tightening of a muscle, group of muscles, or a hollow organ such as the ureter or bronchi. Spasms can occur as a result of various factors including muscle fatigue, injury, irritation, or abnormal nerve activity. They can cause pain and discomfort, and in some cases, interfere with normal bodily functions. For example, a spasm in the bronchi can cause difficulty breathing, while a spasm in the ureter can cause severe pain and may lead to a kidney stone blockage. The treatment for spasms depends on the underlying cause and may include medication, physical therapy, or lifestyle changes.

Angina pectoris, variant (also known as Prinzmetal's angina or vasospastic angina) is a type of chest pain that results from reduced blood flow to the heart muscle due to spasms in the coronary arteries. These spasms cause the arteries to narrow, temporarily reducing the supply of oxygen-rich blood to the heart. This can lead to symptoms such as chest pain, shortness of breath, and fatigue.

Variant angina is typically more severe than other forms of angina and can occur at rest or with minimal physical exertion. It is often treated with medications that help relax the coronary arteries and prevent spasms, such as calcium channel blockers and nitrates. In some cases, additional treatments such as angioplasty or bypass surgery may be necessary to improve blood flow to the heart.

It's important to note that chest pain can have many different causes, so it is essential to seek medical attention if you experience any symptoms of angina or other types of chest pain. A healthcare professional can help determine the cause of your symptoms and develop an appropriate treatment plan.

Spinal cord vascular diseases refer to a group of disorders that affect the blood vessels of the spinal cord. These conditions can result in insufficient blood supply to the spinal cord tissue, leading to ischemia (lack of oxygen) and infarction (tissue death). There are several types of spinal cord vascular diseases, including:

1. Spinal Cord Infarction: This is a rare condition that occurs due to the blockage or narrowing of the arteries supplying blood to the spinal cord. It can result in sudden onset of weakness, numbness, or paralysis in parts of the body served by the affected spinal cord region.
2. Spinal Cord Aneurysm: This is a localized dilation or bulging of a weakened area in the wall of a blood vessel that supplies the spinal cord. If an aneurysm ruptures, it can cause bleeding into the spinal cord tissue, leading to neurological deficits.
3. Spinal Cord Arteriovenous Malformations (AVMs): These are abnormal connections between the arteries and veins in the spinal cord. AVMs can lead to bleeding, ischemia, or both, resulting in various neurological symptoms.
4. Spinal Cord Dural Arteriovenous Fistulas (dAVFs): These are abnormal communications between the spinal artery and a vein located outside the dura mater (the protective covering of the spinal cord). dAVFs can cause venous congestion, leading to ischemia and neurological dysfunction.
5. Spinal Cord Vasculitis: This is an inflammation of the blood vessels in the spinal cord, which can lead to narrowing or blockage of the affected vessels. It can result in various neurological symptoms, such as weakness, numbness, or pain.

Treatment for spinal cord vascular diseases depends on the specific condition and its severity. Treatment options may include medications, surgery, endovascular procedures, or a combination of these approaches.

The term "cisterna magna" is derived from Latin, where "cisterna" means "reservoir" or "receptacle," and "magna" means "large." In medical anatomy, the cisterna magna refers to a large, sac-like space located near the lower part of the brainstem. It is a subarachnoid cistern, which means it is a space that contains cerebrospinal fluid (CSF) between the arachnoid and pia mater membranes covering the brain and spinal cord.

More specifically, the cisterna magna is situated between the cerebellum (the lower part of the brain responsible for coordinating muscle movements and maintaining balance) and the occipital bone (the bone at the back of the skull). This space contains a significant amount of CSF, which serves as a protective cushion for the brain and spinal cord, helps regulate intracranial pressure, and facilitates the circulation of nutrients and waste products.

The cisterna magna is an essential structure in neurosurgical procedures and diagnostic imaging techniques like lumbar puncture (spinal tap) or myelograms, where contrast agents are introduced into the CSF to visualize the spinal cord and surrounding structures. Additionally, it serves as a crucial landmark for various surgical approaches to the posterior fossa (the lower part of the skull that houses the cerebellum and brainstem).

A subdural hematoma in the spine is a specific type of spinal hemorrhage, where blood accumulates in the potential space between the dura mater (the outer layer of the meninges that covers the brain and spinal cord) and the arachnoid membrane (the middle layer of the meninges). This space is normally devoid of fluid or blood.

Subdural hematomas in the spine can result from trauma, such as a fall or motor vehicle accident, which causes bleeding from the venous vessels located between the dura mater and arachnoid membrane. As blood accumulates, it can compress the spinal cord and nerve roots, leading to neurological deficits.

Symptoms of a subdural hematoma in the spine may include localized back pain, radiating pain, sensory loss, motor weakness, or paralysis below the level of the lesion. In severe cases, it can lead to respiratory failure, loss of bowel and bladder control, and even death if not promptly diagnosed and treated.

Human T-lymphotropic virus 2 (HTLV-2) is a retrovirus that primarily infects CD4+ T lymphocytes and other cells of the immune system. It is a deltaretrovirus closely related to HTLV-1, but with distinct biological properties and geographic distribution.

HTLV-2 infection is usually asymptomatic, although some individuals may develop neurological or skin disorders. However, the association between HTLV-2 and these diseases is not as clear as it is for HTLV-1 and adult T-cell leukemia/lymphoma or tropical spastic paraparesis/HTLV-1 associated myelopathy (TSP/HAM).

HTLV-2 is primarily transmitted through breastfeeding, sexual contact, and sharing of needles among injecting drug users. It is endemic in certain populations, particularly indigenous communities in the Americas, such as the Guaraní and Kayapó in Brazil, and the Navajo and Pima in the United States. Prevalence rates can reach up to 30% in some of these populations.

There is currently no vaccine or specific treatment for HTLV-2 infection, and prevention efforts focus on reducing transmission risks through education and harm reduction strategies.

Heterotopic ossification (HO) is a medical condition where bone tissue forms outside the skeleton, in locations where it does not typically exist. This process can occur in various soft tissues, such as muscles, tendons, ligaments, or even inside joint capsules. The abnormal bone growth can lead to pain, stiffness, limited range of motion, and, in some cases, loss of function in the affected area.

There are several types of heterotopic ossification, including:

1. Myositis ossificans - This form is often associated with trauma or injury, such as muscle damage from a fracture, surgery, or direct blow. It typically affects young, active individuals and usually resolves on its own within months to a few years.
2. Neurogenic heterotopic ossification (NHO) - Also known as "traumatic heterotopic ossification," this form is often linked to spinal cord injuries, brain injuries, or central nervous system damage. NHO can cause significant impairment and may require surgical intervention in some cases.
3. Fibrodysplasia ossificans progressiva (FOP) - This rare, genetic disorder causes progressive heterotopic ossification throughout the body, starting in early childhood. The condition significantly impacts mobility and quality of life, with no known cure.

The exact mechanisms behind heterotopic ossification are not fully understood, but it is believed that a combination of factors, including inflammation, tissue injury, and genetic predisposition, contribute to its development. Treatment options may include nonsteroidal anti-inflammatory drugs (NSAIDs), radiation therapy, physical therapy, or surgical removal of the abnormal bone growth, depending on the severity and location of the HO.

Mononuclear leukocytes are a type of white blood cells (leukocytes) that have a single, large nucleus. They include lymphocytes (B-cells, T-cells, and natural killer cells), monocytes, and dendritic cells. These cells play important roles in the body's immune system, including defending against infection and disease, and participating in immune responses and surveillance. Mononuclear leukocytes can be found in the bloodstream as well as in tissues throughout the body. They are involved in both innate and adaptive immunity, providing specific and nonspecific defense mechanisms to protect the body from harmful pathogens and other threats.

Neuromuscular agents are drugs or substances that affect the function of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles. These agents can either enhance or inhibit the transmission of signals across the neuromuscular junction, leading to a variety of effects on muscle tone and activity.

Neuromuscular blocking agents (NMBAs) are a type of neuromuscular agent that is commonly used in anesthesia and critical care settings to induce paralysis during intubation or mechanical ventilation. NMBAs can be classified into two main categories: depolarizing and non-depolarizing agents.

Depolarizing NMBAs, such as succinylcholine, work by activating the nicotinic acetylcholine receptors at the neuromuscular junction, causing muscle contraction followed by paralysis. Non-depolarizing NMBAs, such as rocuronium and vecuronium, block the activation of these receptors, preventing muscle contraction and leading to paralysis.

Other types of neuromuscular agents include cholinesterase inhibitors, which increase the levels of acetylcholine at the neuromuscular junction and can be used to reverse the effects of NMBAs, and botulinum toxin, which is a potent neurotoxin that inhibits the release of acetylcholine from nerve terminals and is used in the treatment of various neurological disorders.

Quadriplegia, also known as tetraplegia, is a medical condition characterized by paralysis affecting all four limbs and the trunk of the body. It results from damage to the cervical spinal cord, typically at levels C1-C8, which controls signals to the muscles in the arms, hands, trunk, legs, and pelvic organs. The extent of quadriplegia can vary widely, ranging from weakness to complete loss of movement and sensation below the level of injury. Other symptoms may include difficulty breathing, bowel and bladder dysfunction, and sexual dysfunction. The severity and prognosis depend on the location and extent of the spinal cord injury.

Botulinum toxins type A are neurotoxins produced by the bacterium Clostridium botulinum and related species. These toxins act by blocking the release of acetylcholine at the neuromuscular junction, leading to muscle paralysis. Botulinum toxin type A is used in medical treatments for various conditions characterized by muscle spasticity or excessive muscle activity, such as cervical dystonia, blepharospasm, strabismus, and chronic migraine. It is also used cosmetically to reduce the appearance of wrinkles by temporarily paralyzing the muscles that cause them. The commercial forms of botulinum toxin type A include Botox, Dysport, and Xeomin.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

A tuberculoma is a granulomatous lesion in the brain caused by the infection of Mycobacterium tuberculosis. It typically consists of caseating necrosis surrounded by a layer of epithelioid histiocytes, Langhans' giant cells, and lymphocytes. Tuberculomas can be single or multiple and may cause various neurological symptoms depending on their size and location. They are often associated with tuberculous meningitis but can also occur in immunocompromised individuals without obvious systemic infection.

Myelography is a medical imaging technique used to examine the spinal cord and surrounding structures, such as the spinal nerves, intervertebral discs, and the spinal column. This procedure involves the injection of a contrast dye into the subarachnoid space, which is the area surrounding the spinal cord filled with cerebrospinal fluid (CSF). The dye outlines the spinal structures, making them visible on X-ray or CT scan images.

The primary purpose of myelography is to diagnose various spinal conditions, including herniated discs, spinal stenosis, tumors, infection, and traumatic injuries. It can help identify any compression or irritation of the spinal cord or nerves that may be causing pain, numbness, weakness, or other neurological symptoms.

The procedure typically requires the patient to lie flat on their stomach or side while the radiologist inserts a thin needle into the subarachnoid space, usually at the lower lumbar level. Once the contrast dye is injected, the patient will be repositioned for various X-ray views or undergo a CT scan to capture detailed images of the spine. After the procedure, patients may experience headaches, nausea, or discomfort at the injection site, but these symptoms usually resolve within a few days.

The Cauda Equina refers to a bundle of nerves at the lower end of the spinal cord within the vertebral column. It originates from the lumbar (L1-L5) and sacral (S1-S5) regions and looks like a horse's tail, hence the name "Cauda Equina" in Latin. These nerves are responsible for providing motor and sensory innervation to the lower extremities, bladder, bowel, and sexual organs. Any damage or compression to this region can lead to serious neurological deficits, such as bowel and bladder incontinence, sexual dysfunction, and lower limb weakness or paralysis.

Dura Mater is the thickest and outermost of the three membranes (meninges) that cover the brain and spinal cord. It provides protection and support to these delicate structures. The other two layers are called the Arachnoid Mater and the Pia Mater, which are thinner and more delicate than the Dura Mater. Together, these three layers form a protective barrier around the central nervous system.

The spinal canal is the bony, protective channel within the vertebral column that contains and houses the spinal cord. It extends from the foramen magnum at the base of the skull to the sacrum, where the spinal cord ends and forms the cauda equina. The spinal canal is formed by a series of vertebral bodies stacked on top of each other, intervertebral discs in between them, and the laminae and spinous processes that form the posterior elements of the vertebrae. The spinal canal provides protection to the spinal cord from external trauma and contains cerebrospinal fluid (CSF) that circulates around the cord, providing nutrients and cushioning. Any narrowing or compression of the spinal canal, known as spinal stenosis, can cause various neurological symptoms due to pressure on the spinal cord or nerve roots.

Tuberculosis (TB) of the spine, also known as Pott's disease, is a specific form of extrapulmonary tuberculosis that involves the vertebral column. It is caused by the Mycobacterium tuberculosis bacterium, which primarily affects the lungs but can spread through the bloodstream to other parts of the body, including the spine.

In Pott's disease, the infection leads to the destruction of the spongy bone (vertebral body) and the intervertebral disc space, resulting in vertebral collapse, kyphosis (hunchback deformity), and potential neurological complications due to spinal cord compression. Common symptoms include back pain, stiffness, fever, night sweats, and weight loss. Early diagnosis and treatment with a multidrug antibiotic regimen are crucial to prevent long-term disability and further spread of the infection.

Central nervous system (CNS) vascular malformations are abnormal tangles or masses of blood vessels in the brain or spinal cord. These malformations can be congenital (present at birth) or acquired (develop later in life). They can vary in size, location, and symptoms, which may include headaches, seizures, weakness, numbness, difficulty speaking or understanding speech, and vision problems.

There are several types of CNS vascular malformations, including:

1. Arteriovenous malformations (AVMs): These are tangles of arteries and veins with a direct connection between them, bypassing the capillary network. AVMs can cause bleeding in the brain or spinal cord, leading to stroke or neurological deficits.
2. Cavernous malformations: These are clusters of dilated, thin-walled blood vessels that form a sac-like structure. They can rupture and bleed, causing symptoms such as seizures, headaches, or neurological deficits.
3. Developmental venous anomalies (DVAs): These are benign vascular malformations characterized by an abnormal pattern of veins that drain blood from the brain. DVAs are usually asymptomatic but can be associated with other vascular malformations.
4. Capillary telangiectasias: These are small clusters of dilated capillaries in the brain or spinal cord. They are usually asymptomatic and found incidentally during imaging studies.
5. Moyamoya disease: This is a rare, progressive cerebrovascular disorder characterized by the narrowing or blockage of the internal carotid arteries and their branches. This can lead to decreased blood flow to the brain, causing symptoms such as headaches, seizures, and strokes.

The diagnosis of CNS vascular malformations typically involves imaging studies such as MRI or CT scans, and sometimes angiography. Treatment options may include observation, medication, surgery, or endovascular procedures, depending on the type, location, and severity of the malformation.

I'm happy to help! However, I believe there might be a slight mistake in your question. "Gene products" is a general term that refers to the molecules produced by genes, including both RNA and proteins. On the other hand, "rex" is often used as an abbreviation for "regulated expression," which can be a part of a gene's name indicating its regulatory properties.

If you are referring to a specific genetic element or molecule named "rex," I would need more context or information to provide an accurate medical definition. Nonetheless, I hope this initial explanation helps! If you have further questions or need clarification, please let me know.

Spinal diseases refer to a range of medical conditions that affect the spinal column, which is made up of vertebrae (bones), intervertebral discs, facet joints, nerves, ligaments, and muscles. These diseases can cause pain, discomfort, stiffness, numbness, weakness, or even paralysis, depending on the severity and location of the condition. Here are some examples of spinal diseases:

1. Degenerative disc disease: This is a condition where the intervertebral discs lose their elasticity and height, leading to stiffness, pain, and decreased mobility.
2. Herniated disc: This occurs when the inner material of the intervertebral disc bulges or herniates out through a tear in the outer layer, causing pressure on the spinal nerves and resulting in pain, numbness, tingling, or weakness in the affected area.
3. Spinal stenosis: This is a narrowing of the spinal canal or the neural foramen (the openings where the spinal nerves exit the spinal column), which can cause pressure on the spinal cord or nerves and result in pain, numbness, tingling, or weakness.
4. Scoliosis: This is a curvature of the spine that can occur in children or adults, leading to an abnormal posture, back pain, and decreased lung function.
5. Osteoarthritis: This is a degenerative joint disease that affects the facet joints in the spine, causing pain, stiffness, and decreased mobility.
6. Ankylosing spondylitis: This is a chronic inflammatory disease that affects the spine and sacroiliac joints, leading to pain, stiffness, and fusion of the vertebrae.
7. Spinal tumors: These are abnormal growths that can occur in the spinal column, which can be benign or malignant, causing pain, neurological symptoms, or even paralysis.
8. Infections: Bacterial or viral infections can affect the spine, leading to pain, fever, and other systemic symptoms.
9. Trauma: Fractures, dislocations, or sprains of the spine can occur due to accidents, falls, or sports injuries, causing pain, neurological deficits, or even paralysis.

Spinal neoplasms refer to abnormal growths or tumors found within the spinal column, which can be benign (non-cancerous) or malignant (cancerous). These tumors can originate in the spine itself, called primary spinal neoplasms, or they can spread to the spine from other parts of the body, known as secondary or metastatic spinal neoplasms. Spinal neoplasms can cause various symptoms, such as back pain, neurological deficits, and even paralysis, depending on their location and size. Early diagnosis and treatment are crucial to prevent or minimize long-term complications and improve the patient's prognosis.

Viral DNA refers to the genetic material present in viruses that consist of DNA as their core component. Deoxyribonucleic acid (DNA) is one of the two types of nucleic acids that are responsible for storing and transmitting genetic information in living organisms. Viruses are infectious agents much smaller than bacteria that can only replicate inside the cells of other organisms, called hosts.

Viral DNA can be double-stranded (dsDNA) or single-stranded (ssDNA), depending on the type of virus. Double-stranded DNA viruses have a genome made up of two complementary strands of DNA, while single-stranded DNA viruses contain only one strand of DNA.

Examples of dsDNA viruses include Adenoviruses, Herpesviruses, and Poxviruses, while ssDNA viruses include Parvoviruses and Circoviruses. Viral DNA plays a crucial role in the replication cycle of the virus, encoding for various proteins necessary for its multiplication and survival within the host cell.

An Arachnoid cyst is a type of abnormal fluid-filled sac that develops between the brain or spinal cord and the arachnoid membrane, which is one of the three layers that cover and protect the central nervous system. These cysts are filled with cerebrospinal fluid (CSF), which is the same fluid that surrounds and cushions the brain and spinal cord.

Arachnoid cysts can vary in size and may be present at birth or develop later in life due to trauma, infection, or other factors. While many arachnoid cysts are asymptomatic and do not cause any problems, larger cysts or those that grow or shift over time can put pressure on the brain or spinal cord, leading to a range of neurological symptoms such as headaches, seizures, hearing or vision changes, balance or coordination difficulties, and cognitive impairments.

Treatment for arachnoid cysts depends on their size, location, and associated symptoms. In some cases, observation and monitoring may be sufficient, while in others, surgical intervention may be necessary to drain the cyst or create a connection between it and the surrounding CSF space to relieve pressure.

Gait is a medical term used to describe the pattern of movement of the limbs during walking or running. It includes the manner or style of walking, including factors such as rhythm, speed, and step length. A person's gait can provide important clues about their physical health and neurological function, and abnormalities in gait may indicate the presence of underlying medical conditions, such as neuromuscular disorders, orthopedic problems, or injuries.

A typical human gait cycle involves two main phases: the stance phase, during which the foot is in contact with the ground, and the swing phase, during which the foot is lifted and moved forward in preparation for the next step. The gait cycle can be further broken down into several sub-phases, including heel strike, foot flat, midstance, heel off, and toe off.

Gait analysis is a specialized field of study that involves observing and measuring a person's gait pattern using various techniques, such as video recordings, force plates, and motion capture systems. This information can be used to diagnose and treat gait abnormalities, improve mobility and function, and prevent injuries.

A dissecting aneurysm is a serious and potentially life-threatening condition that occurs when there is a tear in the inner layer of the artery wall, allowing blood to flow between the layers of the artery wall. This can cause the artery to bulge or balloon out, leading to a dissection aneurysm.

Dissecting aneurysms can occur in any artery, but they are most commonly found in the aorta, which is the largest artery in the body. When a dissecting aneurysm occurs in the aorta, it is often referred to as a "dissecting aortic aneurysm."

Dissecting aneurysms can be caused by various factors, including high blood pressure, atherosclerosis (hardening and narrowing of the arteries), genetic disorders that affect the connective tissue, trauma, or illegal drug use (such as cocaine).

Symptoms of a dissecting aneurysm may include sudden severe chest or back pain, which can feel like ripping or tearing, shortness of breath, sweating, lightheadedness, or loss of consciousness. If left untreated, a dissecting aneurysm can lead to serious complications, such as rupture of the artery, stroke, or even death.

Treatment for a dissecting aneurysm typically involves surgery or endovascular repair to prevent further damage and reduce the risk of rupture. The specific treatment approach will depend on various factors, including the location and size of the aneurysm, the patient's overall health, and their medical history.

An abnormal reflex in a medical context refers to an involuntary and exaggerated response or lack of response to a stimulus that is not expected in the normal physiological range. These responses can be indicative of underlying neurological disorders or damage to the nervous system. Examples include hyperreflexia (overactive reflexes) and hyporeflexia (underactive reflexes). The assessment of reflexes is an important part of a physical examination, as it can provide valuable information about the functioning of the nervous system.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Neurosurgical procedures are operations that are performed on the brain, spinal cord, and peripheral nerves. These procedures are typically carried out by neurosurgeons, who are medical doctors with specialized training in the diagnosis and treatment of disorders of the nervous system. Neurosurgical procedures can be used to treat a wide range of conditions, including traumatic injuries, tumors, aneurysms, vascular malformations, infections, degenerative diseases, and congenital abnormalities.

Some common types of neurosurgical procedures include:

* Craniotomy: A procedure in which a bone flap is temporarily removed from the skull to gain access to the brain. This type of procedure may be performed to remove a tumor, repair a blood vessel, or relieve pressure on the brain.
* Spinal fusion: A procedure in which two or more vertebrae in the spine are fused together using bone grafts and metal hardware. This is often done to stabilize the spine and alleviate pain caused by degenerative conditions or spinal deformities.
* Microvascular decompression: A procedure in which a blood vessel that is causing pressure on a nerve is repositioned or removed. This type of procedure is often used to treat trigeminal neuralgia, a condition that causes severe facial pain.
* Deep brain stimulation: A procedure in which electrodes are implanted in specific areas of the brain and connected to a battery-operated device called a neurostimulator. The neurostimulator sends electrical impulses to the brain to help alleviate symptoms of movement disorders such as Parkinson's disease or dystonia.
* Stereotactic radiosurgery: A non-invasive procedure that uses focused beams of radiation to treat tumors, vascular malformations, and other abnormalities in the brain or spine. This type of procedure is often used for patients who are not good candidates for traditional surgery due to age, health status, or location of the lesion.

Neurosurgical procedures can be complex and require a high degree of skill and expertise. Patients considering neurosurgical treatment should consult with a qualified neurosurgeon to discuss their options and determine the best course of action for their individual situation.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Cerebrospinal fluid (CSF) is a clear, colorless fluid that surrounds and protects the brain and spinal cord. It acts as a shock absorber for the central nervous system and provides nutrients to the brain while removing waste products. CSF is produced by specialized cells called ependymal cells in the choroid plexus of the ventricles (fluid-filled spaces) inside the brain. From there, it circulates through the ventricular system and around the outside of the brain and spinal cord before being absorbed back into the bloodstream. CSF analysis is an important diagnostic tool for various neurological conditions, including infections, inflammation, and cancer.

Retroviridae proteins, oncogenic, refer to the proteins expressed by retroviruses that have the ability to transform normal cells into cancerous ones. These oncogenic proteins are typically encoded by viral genes known as "oncogenes," which are acquired through the process of transduction from the host cell's DNA during retroviral replication.

The most well-known example of an oncogenic retrovirus is the Human T-cell Leukemia Virus Type 1 (HTLV-1), which encodes the Tax and HBZ oncoproteins. These proteins manipulate various cellular signaling pathways, leading to uncontrolled cell growth and malignant transformation.

It is important to note that not all retroviruses are oncogenic, and only a small subset of them have been associated with cancer development in humans or animals.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

A stretch reflex, also known as myotatic reflex, is a rapid muscle contraction in response to stretching within the muscle itself. It is a type of reflex that helps to maintain muscle tone, protect muscles and tendons from injury, and assists in coordinating movements.

The stretch reflex is mediated by the stretch (or length) receptors called muscle spindles, which are located within the muscle fibers. When a muscle is stretched suddenly or rapidly, the muscle spindles detect the change in muscle length and activate a rapid motor neuron response, leading to muscle contraction. This reflex helps to stabilize the joint and prevent further stretching or injury.

The most common example of a stretch reflex is the knee-jerk reflex (also known as the patellar reflex), which is elicited by tapping the patellar tendon just below the knee, causing the quadriceps muscle to stretch and contract. This results in a quick extension of the lower leg. Other examples of stretch reflexes include the ankle jerk reflex (Achilles reflex) and the biceps reflex.

Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

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.

The cervical vertebrae are the seven vertebrae that make up the upper part of the spine, also known as the neck region. They are labeled C1 to C7, with C1 being closest to the skull and C7 connecting to the thoracic vertebrae in the chest region. The cervical vertebrae have unique structures to allow for a wide range of motion in the neck while also protecting the spinal cord and providing attachment points for muscles and ligaments.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

The ankle joint, also known as the talocrural joint, is the articulation between the bones of the lower leg (tibia and fibula) and the talus bone in the foot. It is a synovial hinge joint that allows for dorsiflexion and plantarflexion movements, which are essential for walking, running, and jumping. The ankle joint is reinforced by strong ligaments on both sides to provide stability during these movements.

Adaptor Protein Complex 4 (AP-4) is a group of proteins that form a complex and play a crucial role in the intracellular trafficking of membrane proteins within eukaryotic cells. The AP-4 complex is composed of four subunits, namely, α-Adaptin, β2-Adaptin, Mu-Adaptin, and Sigmal-Adaptin4 (σ4A or σ4B).

The primary function of the AP-4 complex is to facilitate the sorting of proteins in the trans-Golgi network (TGN) and endosomes. It recognizes specific sorting signals present on the cytoplasmic tails of membrane proteins, recruits accessory proteins, and mediates the formation of transport vesicles that carry these proteins to their target destinations.

Mutations in genes encoding AP-4 complex subunits have been associated with several neurological disorders, including hereditary spastic paraplegia (HSP), mental retardation, and cerebral palsy. These genetic defects disrupt the normal functioning of the AP-4 complex, leading to aberrant protein trafficking and impaired neuronal development and function.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

"Tropical Spastic Paraparesis. About TSP medical condition , Patient". Patient. Retrieved 24 July 2016. "Tropical Spastic ... Tropical spastic paraparesis (TSP), is a medical condition that causes weakness, muscle spasms, and sensory disturbance by ... "Tropical Spastic Paraparesis Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih. ... For several decades, the term tropical spastic paraparesis was used to describe a chronic and progressive clinical syndrome ...
Spastic paraparesis has also been reported. It is inherited in an X-linked recessive manner. X-linked Charcot-Marie-Tooth ...
... with spastic paraparesis and apraxia; 607822; PSEN1 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; ... SPG11 Spastic paraplegia-13; 605280; HSPD1 Spastic paraplegia-2; 312920; PLP1 Spastic paraplegia-3A; 182600; SPG3A Spastic ... SLC33A1 Spastic paraplegia-5A; 270800; CYP7B1 Spastic paraplegia-6; 600363; NIPA1 Spastic paraplegia-7; 607259; PGN Spastic ... ALS2 Spastic paraplegia 10; 604187; KIF5A Spastic paraplegia 15; 270700; ZFYVE26 Spastic paraplegia 31; 610250; REEP1 Spastic ...
A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP). GRCh38: ... "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet. 49 (7): 462-72. ...
February 2014). "KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction". Journal of ... However, mutations in KIF1C lead to spastic paraplegia and cerebellar dysfunction in humans. These mutations usually result in ... June 2014). "Motor protein mutations cause a new form of hereditary spastic paraplegia". Neurology. 82 (22): 2007-16. doi: ... June 2018). "Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span". Brain & ...
Bathgate D, Yu-Wai-Man P, Webb B, Taylor RW, Fowler B, Chinnery PF (January 2012). "Recessive spastic paraparesis associated ... This deficiency and mutations in MTHFR have also been linked to recessive spastic paraparesis with complex I deficiency. A ... Complex I deficiency with recessive spastic paraparesis has also been linked to MTHFR variants. In addition, the aberrant ...
HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease ... "Hereditary spastic paraplegia". nhs.uk. 2017-10-18. Retrieved 2018-01-28. Fink JK (2003). "The Hereditary Spastic Paraplegias ... GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A GeneReviews/NCBI/NIH/UW entry on Hereditary Spastic Paraplegia Overview ... The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene ...
... strikingly similar to those of lathyrism and also similar to tropical spastic paraparesis and hereditary spastic paraparesis, ... After the initial weeks of functional improvement, the spastic paraparesis remains stable for the rest of life. Some patients ... Ministry Of, Health (1984). "Mantakassa: an epidemic of spastic paraparesis associated with chronic cyanide intoxication in a ... Ministry Of, Health (1984). "Mantakassa: an epidemic of spastic paraparesis associated with chronic cyanide intoxication in a ...
"Association of high cyanide and low sulphur intake in cassava-induced spastic paraparesis". Lancet. 326 (8466): 1211-1213. doi: ...
Abdallat, A.; Davis, S. M.; Farrage, J.; McDonald, W. I. (1980). "Disordered pigmentation, spastic paraparesis and peripheral ... Irregular decreased skin pigmentation Excessive freckling Insensitivity to pain Paraparesis/quadraparesis The syndrome is ...
"Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15". Neurology. 53 (1): 50-6. doi: ... Mutations of the SPG11 gene cause a rare form of spastic paraplegia, spastic paraplegia type 11. GRCh38: Ensembl release 89: ... GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 11 SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus ... are a major cause of spastic paraplegia with thin corpus callosum". Nature Genetics. 39 (3): 366-72. doi:10.1038/ng1980. PMID ...
2001). "Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis". J. Med. Genet. 37 (10): ... Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. Spastic paraplegia ... 2001). "Hereditary spastic paraplegia caused by mutations in the SPG4 gene". Eur. J. Hum. Genet. 8 (10): 771-6. doi:10.1038/sj. ... 2002). "A novel mutation in the spastin gene in a family with spastic paraplegia". Neurosci. Lett. 325 (1): 57-61. doi:10.1016/ ...
Abdallat A, Davis SM, Farrage J, McDonald WI (1980). "Disordered pigmentation, spastic paraparesis and peripheral neuropathy in ...
"Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to ... Rare symptoms include intellectual disability, developmental delay, progressive spastic quadriplegia, temporomandibular joint ...
Infection by human T-lymphotropic virus can lead to tropical spastic paraparesis and adult T-cell leukaemia. Human ...
"Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia". ... Mutations in this gene have been associated with leukodystrophy dysmyelinating with hereditary spastic paraplegia type 35 ( ... "A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23". Neurology. 71 (4): 248-52. ... "Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)". Human Mutation. 31 (4): E1251-60. doi: ...
More proximal portions of the artery may cause spastic paraparesis and sensory loss contralateral to the lesioned side. Urinary ...
DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis" (PDF). Journal of Neurology. 261 ( ...
... sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis". ... In 2011, the first disease associated alleles of KIF1A were found to be related to Hereditary Spastic Paraplegia (HSP), a ... Hereditary Spastic Paraplegia, and ataxia. These disorders primarily affect the nervous system and have a diverse set of ... progressive spastic paraplegia, periphery neuropathy, optic nerve atrophy, cerebral and cerebellar atrophy, and seizures. KAND ...
... spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation". Journal of Human Genetics. ...
... a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis". J. Med. Genet. 33 (5): 435-436. doi: ...
... is a rare neurologic disorder characterized by spastic paraparesis presents in late childhood along ...
... presenting as a spastic paraparesis. This is the most common location of the lesion, and therefore most individuals will have ... such as spastic gait. The final third experience no recovery at all. The incidence of TM is 4.6 per 1 million per year, ... including acutely developing paraparesis combined with bilateral spinal cord dysfunction for ...
... spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics. 3 (5): 273- ... is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic ...
... spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics. 3 (5): 273- ... Fryns JP, Spaepen A, Cassiman JJ, van den Berghe H (June 1991). "X linked complicated spastic paraplegia, MASA syndrome, and X ... July 1994). "X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene ... This includes disorders such as HSAS, MASA syndrome, agenesis of the corpus callosum and spastic paraplegia. Lower limb ...
... is a class of illnesses with similar signs and symptoms, including konzo, tropical spastic paraparesis (TSP ...
... spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics. 3 (5): 273- ... July 1995). "Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS". ...
SPG64 is a complex hereditary spastic paraplegia characterized by childhood onset progressive spastic paraparesis, delayed ... Biallelic pathogenic variant in ENTPD1 causes autosomal recessive spastic paraplegia 64 (SPG64). ... and Spastic Paraplegia". Ann Neurol. 92 (2): 304-321. doi:10.1002/ana.26381. hdl:1887/3564840. PMID 35471564. Maliszewski CR, ... and Spastic Paraplegia". Ann Neurol. 92 (2): 304-321. doi:10.1002/ana.26381. hdl:1887/3564840. PMID 35471564. ENTPD1+protein,+ ...
... and spastic paraparesis with amyotrophy". American Journal of Human Genetics. 64 (2): 586-93. doi:10.1086/302241. PMC 1377769. ... "Entrez Gene: Spastic paraplegia 9 (autosomal dominant)". Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R, ... Spastic paraplegia 9 (autosomal dominant) is a protein that in humans is encoded by the SPG9 gene. "Human PubMed Reference:". ...
Konzo, a diet-based tropical neuropathy Lathyrism, a diet-based neuropathy Tropical spastic paraparesis, and infectious ...
"Tropical Spastic Paraparesis. About TSP medical condition , Patient". Patient. Retrieved 24 July 2016. "Tropical Spastic ... Tropical spastic paraparesis (TSP), is a medical condition that causes weakness, muscle spasms, and sensory disturbance by ... "Tropical Spastic Paraparesis Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih. ... For several decades, the term tropical spastic paraparesis was used to describe a chronic and progressive clinical syndrome ...
... were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis. ... Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic ... hereditary paraparesis. However, in this disease also other signs of central nervous system involvement are frequently found. ...
Diana Vikhlyaeva, born in 2003 - spastic paraparesis of the lower limbs. February 17, 2014, 12:30 4462 Author: Maxim Sherbina, ...
Hereditary spastic paraparesis. Oz-Levi et al. reported a recessive mutation in TECPR2, an autophagy-related WD repeat- ... Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet 2012; 91:1065-1072. ... Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain 2013; 136:3119-3139. ... containing protein, in five individuals with SPG49, a novel form of recessive hereditary spastic paraparesis (HSP)35. HSP is a ...
Palavras-chave : Self-image; Depression; Paraparesis Tropical Spastic; HTLV. · resumo em Português · texto em Português · ... This present study aimed at reflecting on the body changes suffered by Paraparesis Tropical Spastic (HAM/ TSP) carriers, as ... a psychoanalytical reading of patients with tropical spastic paraparesis. Rev. SBPH [online]. 2013, vol.16, n.1, pp. 33-48. ...
Hereditary spastic paraparesis. The prevalence of hereditary spastic paraparesis (HSP) varies from study to study as a result ... Hereditary spastic paraparesis. The pathways that are most severely affected in pure hereditary spastic paraparesis (HSP) are ... Hereditary spastic paraparesis. Hereditary spastic paraparesis (HSP) is a disease that is compatible with a normal life ... Hereditary spastic paraparesis. More than 40 genetic loci ascribed to the different types of hereditary spastic paraparesis ( ...
... Facchinetti, L. D. et al. , Date ... Falls in patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), v. 51, p. 222-225, 2013. ... associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients and possible factors associated to their occurrence. ...
A 28-year-old woman with spastic paraparesis.. on Sunday, July 24, 2022 ...
JSciMed Central publishes international, peer-reviewed science, medicine, and engineering journals. It is an Open Access platform to support scientific innovation and advancement in the research community by increasing access to peer-reviewed quality research articles.
... spastic paraparesis; TORCH: toxoplasmosis, other, rubella, cytomegalovirus, and herpes infections ...
Spastic paraparesis question I was recently told by the neurologist that he thinks I have hereditary spastic paraplegia, I was ... Hi all, As many of you know, I was diagnosed with Hereditary Spastic Paraplegia last summer. The only definitive way to ... As many of you know, I was originally diagnosed with the upper motor neuron disorder, hereditary spastic paraplegia, but a ... I was diagnosed with hereditary spastic paraplegia at Houston Methodist, but I dont have a family history or clear genetic ...
Visual evoked potentials in konzo, a spastic paraparesis of acute onset in Africa. / Mwanza, J. C.; Lysebo, D. E.; Kayembe, D. ... Visual evoked potentials in konzo, a spastic paraparesis of acute onset in Africa. In: Ophthalmologica. 2003 ; Vol. 217, No. 6 ... Visual evoked potentials in konzo, a spastic paraparesis of acute onset in Africa. Ophthalmologica. 2003;217(6):381-386. doi: ... Dive into the research topics of Visual evoked potentials in konzo, a spastic paraparesis of acute onset in Africa. Together ...
HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) - Learn about the causes, symptoms, diagnosis & treatment ... HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) By Michael Rubin , MDCM, New York Presbyterian Hospital- ... HTLV-1-associated myelopathy/tropical spastic paraparesis is a slowly progressive disorder of the spinal cord caused by the ... The diagnosis of HTLV-1-associated myelopathy/tropical spastic paraparesis is usually based on symptoms and the persons risk ...
"Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia Syndrome." Syndromes: Rapid Recognition and Perioperative ... Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia Syndrome. In: Bissonnette B, Luginbuehl I, Marciniak B, ... Branchial myoclonus with spastic paraparesis and cerebellar ataxia syndrome. Bissonnette B, Luginbuehl I, Marciniak B, Dalens ... De Yebenes JG, Vazquez A, Rabano J, et al: Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: A new ...
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of ... Most of them showed an ataxic-spastic picture, two a "pure" cerebellar phenotype, and one a "pure" spastic presentation. The ... Most of them showed an ataxic-spastic picture, two a "pure" cerebellar phenotype, and one a "pure" spastic presentation. The ... POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of ...
Early Juvenile Human T-cell Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis: Study of 25 Patients. ... tropical spastic paraparesis (HAM/TSP) and infective dermatitis associated with HTLV-1 (IDH). The clinical characteristics and ...
Background Clear therapeutic suggestions for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) are. March 8, ... Background Clear therapeutic suggestions for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) are missing ...
In order to better understand and manage HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP), a rare virus- ... registration system reveals details of how Japanese patients with HTLV-1-associated myelopathy/tropical spastic paraparesis ... registration system reveals details of how Japanese patients with HTLV-1-associated myelopathy/tropical spastic paraparesis ... registration system reveals details of how Japanese patients with HTLV-1-associated myelopathy/tropical spastic paraparesis ...
Hereditary spastic paraplegia (HSP) a degenerative genetic disorder with stiffness and weakness of leg and hip muscles gait ... Hereditary spastic paraparesis. HSP is many times classified based upon whether progressive spasticity happens as an isolated ... Hereditary Spastic Paraplegia (HSP): Facts and Information. Author: Thomas C. Weiss - Contact: Contact Details. Published: 2010 ... Hereditary spastic paraplegia (HSP) is a group of degenerative genetic disorders involving the spinal cord which are ...
Spastic paraparesis and AD co-occurred, but also appeared separately. The mean age of onset was reported as 44.4 years (ranging ... Alzheimers disease with spastic paraparesis and cotton wool plaques: two pedigrees with PS-1 exon 9 deletions. Brain. 2003 ... Clinical Phenotype: Alzheimers Disease, Spastic Paraparesis Reference Assembly: GRCh37/hg19 Position: Chr14:73673093 G>T dbSNP ... Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum ...
Dysmyelinating leukodystrophy and spastic paraparesis, see Fatty acid hydroxylase-associated neurodegeneration. * ...
Factors Involved in Pain Perception and Quality of Life in Patients with Tropical Spastic Paraparesis Letter. Criado-Martinez, ... Pain and quality of life in human T cell lymphotropic virus type 1 associated myelopathy or tropical spastic paraparesis after ... presented HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). No individual was classified as having excellent ...
Evidence of preferential female prevalence of HTLV-I associated tropical spastic paraparesis in Bahia-Brazil  Carvalho, Otavio ... HTLV-I associated tropical spastic paraparesis. Cerebral spinal fluid evolutive aspects in 128 cases.  Carvalho, Otavio ... Clustering of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) and infective dermatitis associated with HTLV ...
Spastic paraparesis HP:0002313. *Wide mouth HP:0000154. Additional information. Further information. *Disease(s)/group of ...
Spastic paraparesis. Spastic paraparesis is stiffness, or spasticity, in the muscles of both the arms and legs (spastic ... Less severe versions may cause progressive stiffening in the legs, also known as spastic paraparesis. Spastic paraparesis can ... spastic paraparesis). It is the most common symptom of ARG1-D. It occurs in both severe and milder cases. Sometimes, it can ...
hereditary spastic paraparesis. *Huntington disease. *mitochondrial disorders. *muscular dystrophies. *myotonic dystrophy. * ...
Tropical Spastic Paraparesis/HTLV-I Associated Myelopathy in Brazil. Journal of Acquired Immune Deficiency Syndromes and Human ... Touzé E, Gessain, Lyon-Caen O, Gout O. Tropical Spastic Paraparesis/HTLV-I-Associated Myelopathy in Europe and Africa: Clinical ... Tropical spastic paraparesis in northeastern Brazil. Arquivos de Neuropsiquiatria 47: 134-138, 1989. ... Tropical Spastic Paraparesis or HTLV-I Associated Myelopathy (TSP/HAM). This condition is a chronic myelopathy without ...
Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated ... Note: 60% of individuals with TCC, cognitive impairment, and spastic paraparesis were found to have biallelic SPG11 pathogenic ... Review Spastic Paraplegia 4.[GeneReviews(®). 1993]. Review Spastic Paraplegia 4.. Parodi L, Rydning SL, Tallaksen C, Durr A. ... The author suggests the following organization for patient registries and information on ataxia and spastic paraparesis:. ...
  • SENDA is a recently established subtype of neurode-generation with brain iron accumulation 14 that begins with early-onset spastic paraplegia and mental retardation, which remain static until adulthood. (nature.com)
  • Spastic paraplegia 11 (SPG11) should be suspected in individuals with the following clinical and imaging findings. (nih.gov)
  • Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. (nih.gov)
  • See Spastic Paraplegia 15 . (nih.gov)
  • this can be easily misdiagnosed as hereditary spastic paraplegia. (dovepress.com)
  • The objective of this study was to investigate the frequency of late-onset leukodystrophies in patients with spastic paraplegia. (dovepress.com)
  • We performed genetic analysis using a custom-designed gene panel for leukodystrophies in 112 hereditary spastic paraplegia-like patients. (dovepress.com)
  • In terms of clinical manifestations, in addition to spastic paraplegia, three adrenomyeloneuropathy probands also had adrenocortical insufficiency, two Alexander disease probands developed urinary retention, one CTX proband developed cataracts and chronic diarrhea and the other presented with chronic diarrhea and mild tendon xanthomatosis. (dovepress.com)
  • Patients with late-onset spastic paraplegia should be screened for underlying leukodystrophies, irrespective of the presence of additional complicating symptoms and neuroimaging abnormalities. (dovepress.com)
  • Several reports have shown that various late-onset leukodystrophies, such as X-linked adrenoleukodystrophy (ALD) and Krabbe disease (KD), may present as spastic paraplegia (SP) without leukodystrophy on neuroimaging and be easily misdiagnosed as hereditary spastic paraplegia (HSP) on clinical grounds. (dovepress.com)
  • Strümpell first described hereditary forms of spastic paraplegia (see the image below) in 1883, with Lorrain later providing more extensive detail. (medscape.com)
  • Photograph of a 16-year-old girl with complicated hereditary spastic paraplegia. (medscape.com)
  • Primary progressive multiple sclerosis (PPMS) and hereditary spastic paraplegia (HSP) are inherited disorders affecting nerves that send messages to the muscles. (rarediseasesnetwork.org)
  • The team assessed sNfl and sGFAP levels in 25 patients with PPMS, 25 patients with spastic paraplegia type 4 (SPG4, the most common type of HSP), and 60 control subjects. (rarediseasesnetwork.org)
  • Kessler C, Ruschil C, Abdelhak A, Wilke C, Maleska A, Kuhle J, Krumbholz M, Kowarik MC, Schüle R. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4. (rarediseasesnetwork.org)
  • Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. (bmj.com)
  • I have a form of Muscular Dystrophy called Hereditary Spastic Paraparesis. (wafb.com)
  • HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
  • Because patients with both disorders can present with slowly progressive spastic paraparesis (weakness in the legs), accurate diagnoses are often challenging. (rarediseasesnetwork.org)
  • Genetic disorder resulting in familial branchial myoclonus, spastic paraparesis, and cerebellar ataxia. (mhmedical.com)
  • [ 4 ] HSP is also called familial spastic paraparesis and Strümpell-Lorrain syndrome. (medscape.com)
  • Mr Shahrul, 23, was diagnosed with lower limbs spastic paraparesis when he was 16, and found drive through a new sport - wheelchair racing. (straitstimes.com)
  • Objectives: To determine the prevalence of falls in human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients and possible factors associated to their occurrence. (fiocruz.br)
  • HTLV-1-associated myelopathy/tropical spastic paraparesis is a slowly progressive disorder of the spinal cord caused by the human T-lymphotropic virus 1 (HTLV-1). (msdmanuals.com)
  • HTLV-1-associated myelopathy/tropical spastic paraparesis is more common among women because HTLV-1 infection is more common among women. (msdmanuals.com)
  • In people with HTLV-1-associated myelopathy/tropical spastic paraparesis, the muscles in both legs gradually become weak. (msdmanuals.com)
  • Early Juvenile Human T-cell Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis: Study of 25 Patients. (bvsalud.org)
  • Human T-cell lymphotropic virus type-1 ( HTLV-1 ) may cause severe diseases such as HTLV-1-associated myelopathy / tropical spastic paraparesis (HAM/TSP) and infective dermatitis associated with HTLV-1 (IDH). (bvsalud.org)
  • Background Clear therapeutic suggestions for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) are missing because of the insufficient randomized double-blind controlled clinical studies. (ampkpathway.com)
  • In order to better understand and manage HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP), a rare virus-induced neurodegenerative disease, we have established a registration system known as HAM-net to gather data from patients all over Japan. (biomedcentral.com)
  • It is also strongly implicated in non-neoplastic chronic inflammatory diseases such as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). (kegg.jp)
  • Introduction: tropical Spastic Paraparesis or HTLV-associated Myelopathy (HAM/TSP) is a chronic infectious and inflammatory disease that can interfere with various aspects of individuals life and, thereby alter their Quality of Life (QoL). (bvsalud.org)
  • Detailed history and examination are necessary to determine the progression of neurologic impairment (bulbar palsy, degree of spastic paraparesis and cerebellar ataxia). (mhmedical.com)
  • Most of them showed an ataxic-spastic picture, two a "pure" cerebellar phenotype, and one a "pure" spastic presentation. (unicatt.it)
  • Neurological involvement included parkinsonism, cerebellar ataxia and spastic paraparesis. (bmj.com)
  • Tropical spastic paraparesis (TSP), is a medical condition that causes weakness, muscle spasms, and sensory disturbance by human T-lymphotropic virus resulting in paraparesis, weakness of the legs. (wikipedia.org)
  • For several decades, the term tropical spastic paraparesis was used to describe a chronic and progressive clinical syndrome that affected adults living in equatorial areas of the world. (wikipedia.org)
  • Clinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis. (bmj.com)
  • [ 7 ] This condition is clinically classified as taking either a pure (uncomplicated) form or a complicated form, depending on whether the paraparesis exists in isolation or in conjunction with other major clinical features. (medscape.com)
  • She has a spastic gait disturbance, mental retardation, and extrapyramidal symptoms. (medscape.com)
  • Myoclonus was a late feature, but spastic paraparesis was not observed. (alzforum.org)
  • Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. (endocrine-abstracts.org)
  • Some of the signs of Tropical spastic paraparesis are: Leg instability Urinary dysfunction. (wikipedia.org)
  • This present study aimed at reflecting on the body changes suffered by Paraparesis Tropical Spastic (HAM/ TSP) carriers, as well as to raise some subjective transformations as the disease progresses. (bvsalud.org)
  • Secondary cases occurred among genetically related and through migration of affected persons from villages along unrelated persons in a setting of prolonged intrahousehold the Viliui River in Eastern Siberia, where VE has been en- contact with a patient manifesting the disease. (cdc.gov)
  • Spastic paraparesis is stiffness, or spasticity, in the muscles of both the arms and legs (spastic quadriparesis) or in the muscles of both legs (spastic paraparesis). (childneurologyfoundation.org)
  • Three patients (males, black, ages 37, 40 and 57) attended a university clinic with a progressive paraparesis of obscure origin. (scielo.br)
  • Case Description -A 3-year-old French Bulldog was evaluated because of acute signs of back pain and spastic paraparesis. (avma.org)
  • medical citation needed] Tropical myeloneuropathies are classified as two separate syndromes: tropical ataxic neuropathy (TAN) and tropical spastic paraparesis (TSP). (wikipedia.org)
  • A synthetic derivative, 17-alpha-ethinyltestosterone, can be used to treat Tropical spastic paraparesis, improvement in motor and bladder function was reported but not sustainable. (wikipedia.org)
  • Spastic paraparesis can also include difficulties with walking or with bowel or bladder control. (childneurologyfoundation.org)
  • In Tropical spastic paraparesis, HTLV-1 shows elevated cellular acquired immune response as well as high production of proinflammatory cytokines. (wikipedia.org)
  • Among the methods of diagnosing tropical spastic paraparesis are MRI (magnetic resonance imaging) and lumbar puncture (which may show lymphocytosis). (wikipedia.org)
  • Mogamulizumab, an anti-CCR4 IgG1 monoclonal antibody, is also being researched as a possible treatment for Tropical spastic paraparesis. (wikipedia.org)
  • The prognosis for Tropical spastic paraparesis indicates some improvement in a percentage of cases due to immunosuppressive treatment. (wikipedia.org)
  • They are placed together because they are found in tropical countries, although tropical spastic paraparesis has occurred in temperate countries (e.g. (wikipedia.org)
  • Progression can include spastic paraparesis, ataxia, and generalized limb anesthesia. (cap.org)
  • Examples of neurogenetic conditions include Huntington's disease, myotonic dystrophy, hereditary spastic paraparesis, and ataxia among others. (albertahealthservices.ca)
  • As a result, a number of rare neurogenetic disorders show increased prevalence or local variants in this region, including Friedreich's ataxia (FRDA), and other hereditary ataxias, spastic parapareses and neuropathies. (acnr.co.uk)
  • HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
  • Silver syndrome is a rare variant of autosomal dominant complicated hereditary spastic paraparesis (HSP), in which spasticity of the lower limbs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. (nih.gov)
  • Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. (nih.gov)
  • Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. (nih.gov)
  • Hereditary spastic paraplegias are divided into two types: pure and complex. (nih.gov)
  • Troyer syndrome is a complex hereditary spastic paraplegia. (nih.gov)
  • Burgunder JM, Hunziker W. Hereditary spastic paraplegia: clues from a rare disorder for a common problem? (nih.gov)
  • SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (nih.gov)
  • A clinical and radiological study of a complicated hereditary spastic paraplegia. (nih.gov)
  • Common diagnoses seen in the clinic include cerebral palsy, stroke, acquired or traumatic brain injury, spinal cord injury, multiple sclerosis, hereditary spastic paraparesis and ALS. (vch.ca)
  • How can I or my loved one help improve care for people with HTLV-1-associated myelopathy/tropical spastic paraparesis? (nih.gov)
  • Where can I find more information about HTLV-1-associated myelopathy/tropical spastic paraparesis? (nih.gov)
  • HTLV-1-associated myelopathy/tropical spastic paraparesis is a slowly progressive disorder of the spinal cord caused by the human T-lymphotropic virus 1 (HTLV-1). (msdmanuals.com)
  • HTLV-1-associated myelopathy/tropical spastic paraparesis is more common among women because HTLV-1 infection is more common among women. (msdmanuals.com)
  • In people with HTLV-1-associated myelopathy/tropical spastic paraparesis, the muscles in both legs gradually become weak. (msdmanuals.com)
  • Human T-cell lymphotropic virus (HTLV-1) is the causative agent of the incapacitating, neuroinflammatory disease HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). (unl.pt)
  • HTLV-1 also causes a neurologic disease called tropical spastic paraparesis/HTLV-1 associated myelopathy. (nih.gov)
  • Human T-cell leukemia virus type 1 (HTLV-1) is associated with a variety of clinical manifestations, including tropical spastic paraparesis or HTLV-1-associated myelopathy (TSP/HAM). (pasteur.fr)
  • When Do Symptoms of Autosomal recessive spastic paraplegia type 15 Begin? (nih.gov)
  • CMT5 refers to patients with autosomal dominant spastic paraparesis (partial loss of movement in the lower limbs) with sensory neuropathy. (mda.org)
  • Newly diagnosed with Spastic paraparesis-cataracts-speech delay syndrome? (globalgenes.org)
  • Secondary cases occurred among genetically related and through migration of affected persons from villages along unrelated persons in a setting of prolonged intrahousehold the Viliui River in Eastern Siberia, where VE has been en- contact with a patient manifesting the disease. (cdc.gov)