A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
Graphic representations, especially of the face, of real persons, usually posed, living or dead. (From Thesaurus for Graphic Materials II, p540, 1995)
"Medicine in Art" refers to the depiction or use of medical themes, practices, or symbolism in various art forms, such as paintings, sculptures, literature, and performing arts, often serving educational, historical, or aesthetic purposes.
A plant genus of the family ASTERACEAE known for allergenic pollen (ALLERGENS).
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
A characteristic symptom complex.
Cell surface proteins that bind acetylcholine with high affinity and trigger intracellular changes influencing the behavior of cells. Cholinergic receptors are divided into two major classes, muscarinic and nicotinic, based originally on their affinity for nicotine and muscarine. Each group is further subdivided based on pharmacology, location, mode of action, and/or molecular biology.
The specialized postsynaptic region of a muscle cell. The motor endplate is immediately across the synaptic cleft from the presynaptic axon terminal. Among its anatomical specializations are junctional folds which harbor a high density of cholinergic receptors.
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
The synapse between a neuron and a muscle.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
An enzyme that catalyzes the hydrolysis of ACETYLCHOLINE to CHOLINE and acetate. In the CNS, this enzyme plays a role in the function of peripheral neuromuscular junctions. EC 3.1.1.7.
An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)
An enzyme that catalyzes the formation of acetylcholine from acetyl-CoA and choline. EC 2.3.1.6.
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.
Drugs that inhibit cholinesterases. The neurotransmitter ACETYLCHOLINE is rapidly hydrolyzed, and thereby inactivated, by cholinesterases. When cholinesterases are inhibited, the action of endogenously released acetylcholine at cholinergic synapses is potentiated. Cholinesterase inhibitors are widely used clinically for their potentiation of cholinergic inputs to the gastrointestinal tract and urinary bladder, the eye, and skeletal muscles; they are also used for their effects on the heart and the central nervous system.
Biochemical identification of mutational changes in a nucleotide sequence.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
One of the two major classes of cholinergic receptors. Nicotinic receptors were originally distinguished by their preference for NICOTINE over MUSCARINE. They are generally divided into muscle-type and neuronal-type (previously ganglionic) based on pharmacology, and subunit composition of the receptors.
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.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
One of the POTASSIUM CHANNEL BLOCKERS, with secondary effect on calcium currents, which is used mainly as a research tool and to characterize channel subtypes.
Neurotoxic proteins from the venom of the banded or Formosan krait (Bungarus multicinctus, an elapid snake). alpha-Bungarotoxin blocks nicotinic acetylcholine receptors and has been used to isolate and study them; beta- and gamma-bungarotoxins act presynaptically causing acetylcholine release and depletion. Both alpha and beta forms have been characterized, the alpha being similar to the large, long or Type II neurotoxins from other elapid venoms.
A neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
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.
An electrophysiologic technique for studying cells, cell membranes, and occasionally isolated organelles. All patch-clamp methods rely on a very high-resistance seal between a micropipette and a membrane; the seal is usually attained by gentle suction. The four most common variants include on-cell patch, inside-out patch, outside-out patch, and whole-cell clamp. Patch-clamp methods are commonly used to voltage clamp, that is control the voltage across the membrane and measure current flow, but current-clamp methods, in which the current is controlled and the voltage is measured, are also used.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue.
The communication from a NEURON to a target (neuron, muscle, or secretory cell) across a SYNAPSE. In chemical synaptic transmission, the presynaptic neuron releases a NEUROTRANSMITTER that diffuses across the synaptic cleft and binds to specific synaptic receptors, activating them. The activated receptors modulate specific ion channels and/or second-messenger systems in the postsynaptic cell. In electrical synaptic transmission, electrical signals are communicated as an ionic current flow across ELECTRICAL SYNAPSES.
Tumors or cancer of the LUNG.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Contractile tissue that produces movement in animals.
Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)

Lambert-Eaton antibodies inhibit Ca2+ currents but paradoxically increase exocytosis during stimulus trains in bovine adrenal chromaffin cells. (1/52)

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease that affects neurotransmitter release at peripheral synapses. LEMS antibodies inhibit Ca2+ currents in excitable cells, but it is not known whether there are additional effects on stimulus-secretion coupling. The effect of LEMS antibodies on Ca2+ currents and exocytosis was studied in bovine adrenal chromaffin cells using whole-cell voltage clamp in perforated-patch recordings. Purified LEMS IgGs from five patients inhibited N- and P/Q-type Ca2+ current components to different extents. The reduction in Ca2+ current resulted in smaller exocytotic responses to single depolarizing pulses, but the normal relationship between integrated Ca2+ entry and exocytosis (Enisch and Nowycky, 1996) was preserved. The hallmark of LEMS is a large potentiation of neuromuscular transmission after high-frequency stimulation. In chromaffin cells, stimulus trains can induce activity-dependent enhancement of the Ca2+-exocytosis relationship. Enhancement during trains occurs most frequently when pulses are brief and evoke very small amounts of Ca2+ entry (Engisch et al., 1997). LEMS antibody treatment increased the percentage of trains eliciting enhancement through two mechanisms: (1) by reducing Ca2+ entry and (2) through a Ca2+-independent effect on the process of enhancement. This leads to a paradoxical increase in the amount of exocytosis during stimulus trains, despite inhibition of Ca2+ currents.  (+info)

An autoimmune channelopathy associated with cancer: Lambert-Eaton myasthenic syndrome. (2/52)

The Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease that is often associated with lung cancer which shares a common antigenic protein with the motor nerve terminal. The myasthenic weakness is caused by an antibody-induced reduction in the release of acetylcholine from the nerve terminal. This study was undertaken to determine the target of LEMS antibodies and specify the voltage-gated calcium channel (VGCC) through which calcium influxes following the presynaptic membrane depolarization. Among the 5 types of VGCC, we found that the P/Q-type was highly recognized by LEMS antibodies. Using synthetic peptides or recombinant proteins as antigens for testing LEMS patients' sera or inducing an animal model of LEMS, we specified the S5-S6 linker regions in 3 of 4 domains constituting the alpha1 subunit of P/Q-type VGCC as immunodominant sites. Synaptotagmin, one of the functionally VGCC-associated proteins and a protein functioning as a calcium sensor for exocytosis of synaptic vesicles, was also found to be a pathogenic immunogen of LEMS when the recombinant protein for antibody assay and the synthetic peptide for the induction of animal model were used as antigens. The present study forms a united front against cancer and cancer-related myasthenic syndrome.  (+info)

Clinical analysis of 12 Korean Lambert-Eaton myasthenic syndrome (LEMS) patients. (3/52)

The Lambert-Eaton myasthenic syndrome (LEMS) heralds the occurrence of malignancy, especially small-cell lung cancer (SCLC), but it can also occur in the absence of cancer. Twelve patients were diagnosed as LEMS by clinical features and the classical electrophysiological triad, which includes a low amplitude of compound muscle action potentials (CMAP), decremental responses on low-rate stimulation, and incremental responses on high-rate stimulation on the repetitive nerve stimulation (RNS) test. There were 6 male and 6 female patients, ranging in age from 49 to 66 years. Malignancy(all were SCLC) was found in 7 patients. Males predominantly expressed the paraneoplastic form; whereas the primary autoimmune form was found only in women, who showed a good response to corticosteroid treatment. The neurological features were similar in both groups: proximal lower limb weakness, depressed muscle stretch reflexes, and dryness of mouth in nearly all patients. Bulbar dysfunction and limb paresthesia were a little more frequent in the paraneoplastic form. In RNS tests, the characteristic electrophysiological abnormalities were found in all patients and were more profound in the paraneoplastic form. We concluded that LEMS is commonly associated with malignancy, especially SCLC, but it should also be stressed that there are many female LEMS patients who do not harbor any malignancy at all, and that other treatment strategies such as immunotherapy should be considered for these patients.  (+info)

Lambert-Eaton myasthenic syndrome. (4/52)

The Lambert-Eaton myasthenic syndrome is a neuromuscular disorder characterised by defective neurotransmitter release at autonomic neurones and presynaptic terminals of the neuromuscular junction. It is caused by an IgG autoantibody formed against especially the P/Q type of voltage-gated calcium channels (VGCC) which is an essential component of the mechanism of neurotransmitter release. Many patients have an associated small cell carcinoma of the lung which appears to provide the antigenic stimulus for antibody production, although there is another group with no underlying malignancy. Both groups show an association with immunological disorders. Assay of VGCC antibody titres and electrophysiological tests help to differentiate Lambert-Eaton myasthenic syndrome from other disorders of the neuromuscular junction. Several drugs and therapeutic interventions capable of producing significant clinical improvement are currently available. Patients should also be investigated for underlying tumours, the specific treatment of which can result in remission or amelioration of symptoms.  (+info)

Molecular targets for autoimmune and genetic disorders of neuromuscular transmission. (5/52)

The neuromuscular junction is the target of a variety of autoimmune, neurotoxic and genetic disorders, most of which result in muscle weakness. Most of the diseases, and many neurotoxins, target the ion channels that are essential for neuromuscular transmission. Myasthenia gravis is an acquired autoimmune disease caused in the majority of patients by antibodies to the acetylcholine receptor, a ligand-gated ion channel. The antibodies lead to loss of acetylcholine receptor, reduced efficiency of neuromuscular transmission and muscle weakness and fatigue. Placental transfer of these antibodies in women with myasthenia can cause fetal or neonatal weakness and occasionally severe deformities. Lambert Eaton myasthenic syndrome and acquired neuromyotonia are caused by antibodies to voltage-gated calcium or potassium channels, respectively. In the rare acquired neuromyotonia, reduced repolarization of the nerve terminal leads to spontaneous and repetitive muscle activity. In each of these disorders, the antibodies are detected by immunoprecipitation of the relevant ion channel labelled with radioactive neurotoxins. Genetic disorders of neuromuscular transmission are due mainly to mutations in the genes for the acetylcholine receptor. These conditions show recessive or dominant inheritance and result in either loss of receptors or altered kinetics of acetylcholine receptor channel properties. Study of these conditions has greatly increased our understanding of synaptic function and of disease aetiology.  (+info)

Long term outcome in Lambert-Eaton myasthenic syndrome without lung cancer. (6/52)

OBJECTIVES: To determine the prognosis in patients with Lambert-Eaton myasthenic syndrome (LEMS) without small cell lung cancer (SCLC), and to analyse longitudinal clinical, electrophysiological, and immunological data on each patient to establish prognostic factors for long term outcome. METHODS: The retrospective and part prospective study of 47 patients with LEMS was undertaken from data recorded during visits to a specialist neuromuscular clinic. Serial measurements of muscle strength score in shoulder abduction, elbow extension and hip flexion, compound muscle action potential (CMAP) amplitude, and postcontraction increment in abductor digiti minimi (ADM), and anti-P/Q-type voltage gated calcium channel (VGCC) antibody titre were made at each visit. RESULTS: Muscle strength scores were improved in 88% of patients after a median duration of immunosuppressive treatment of 6 years (range 1.3 to 17 years); anti-VGCC antibody titres fell in 52% after treatment; and mean resting CMAP amplitude improved from 2.7 mV initially to 8.8 mV after 2 years of treatment p<0.001). Initial pretreatment anti-VGCC antibody titre did not correlate significantly with either CMAP amplitude, CMAP increment, or clinical score: from serial measurements made during follow up, significant correlation between antibody titre and CMAP amplitude was seen in only two patients. Sustained clinical remission was achieved by 20 (43%) of whom only four remained in remission without the need for immunosuppression. Using a Cox proportional hazards model, the only independent predictor of sustained clinical remission was initial pretreatment clinical score (p=0.03). Lymphoma presented in three patients during the study. CONCLUSIONS: The prognosis in patients with LEMS without SCLC is favourable, although patients often need significant doses of immunosuppressive treatment to remain clinically stable. Only initial clinical muscle strength measurements and not anti-VGCC antibody titres or electrophysiological recordings are predictive of long term outcome.  (+info)

Semiquantitative measurement of acetylcholine receptor at the motor end-plate in myasthenia gravis. (7/52)

OBJECTIVE: The purpose of this study was to investigate whether this semiquantitative measurement of the motor end-plate acetylcholine receptors (AChRs) can be used to confirm the diagnosis of myasthenia gravis (MG), and in particular ocular MG. METHODS: Motor point biopsies were performed from the biceps brachii muscles. Measurement of AChRs was made in peroxidase-labeled alpha-bungarotoxin stained muscle specimens. PATIENTS: Twenty patients with ocular MG, 37 with generalized MG, 5 with Lambert-Eaton myasthenic syndrome, 3 with botulism, 8 with amyotrophic lateral sclerosis, and 8 controls were included in this study. RESULTS: AChRs were decreased in all patients with generalized MG and in 80% of ocular MG including patients without detectable circulating anti-AChR antibodies, as compared with the control subjects. CONCLUSION: This method is useful to confirm the diagnosis of MG, in particular ocular MG without detectable anti-AChR antibodies.  (+info)

The immunopathogenesis of paraneoplastic neurological syndromes. (8/52)

Paraneoplastic neurological syndromes are rare non-metastatic complications of cancer that have an immune-mediated aetiology. The central and peripheral nervous systems are considered to be immune-privileged sites, since the presence of the 'blood-brain/nerve barrier' means that antigens sequestered within the nervous system do not normally induce an immune response. Aberrant expression of a neuronal antigen by a tumour arising outside this barrier can lead to the breakdown of immune tolerance to the nervous system. However, in many cases the immune mechanisms that result in neurological dysfunction remain poorly defined. Furthermore, aberrant expression of neuronal antigens can be detected in many tumours that are not complicated by non-metastatic neurological syndromes. This review article examines current concepts in the immunopathogenesis of paraneoplastic neurological syndromes.  (+info)

Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders characterized by muscle weakness and fatigability. They are caused by genetic defects that affect the function of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles.

Unlike acquired myasthenia gravis, CMS are present at birth or develop in early childhood. The muscle weakness can vary from mild to severe and can affect any part of the body, including the eyes, face, neck, limbs, and respiratory muscles. The severity and distribution of symptoms can differ widely among individuals with CMS, depending on the specific genetic defect involved.

CMS are caused by mutations in genes that encode proteins involved in the formation, maintenance, or function of the neuromuscular junction. These proteins include receptors for neurotransmitters, enzymes involved in neurotransmitter metabolism, and structural components of the synaptic cleft.

The diagnosis of CMS is based on clinical features, electrophysiological studies, and genetic testing. Treatment options depend on the specific type of CMS and may include medications that improve neuromuscular transmission, such as cholinesterase inhibitors, or therapies that modulate the immune system, such as plasma exchange or intravenous immunoglobulin. In some cases, supportive care, such as respiratory assistance or physical therapy, may be necessary to manage symptoms and prevent complications.

Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness and fatigability. It is caused by the presence of antibodies against voltage-gated calcium channels (VGCC) in the neuromuscular junction, which disrupts the normal transmission of signals between nerves and muscles.

The symptoms of LEMS include proximal muscle weakness, which may affect the legs more than the arms, and autonomic dysfunction such as dry mouth and constipation. The weakness tends to improve with exercise but worsens after periods of rest. In some cases, LEMS can be associated with cancer, particularly small cell lung cancer.

Diagnosis of LEMS typically involves a combination of clinical evaluation, electromyography (EMG) studies, and blood tests to detect VGCC antibodies. Treatment may include medications such as pyridostigmine, which improves neuromuscular transmission, or intravenous immunoglobulin and plasma exchange, which help to reduce the immune response. In cases where LEMS is associated with cancer, treatment of the underlying malignancy can also improve muscle strength and function.

I'm sorry for any confusion, but "Portraits as Topic" is not a medical term or concept. It refers to portraits, which are visual representations or images of a person, usually showing the face and shoulders. The term "as Topic" indicates that it is the subject or theme being discussed. Therefore, "Portraits as Topic" generally relates to the study, analysis, or discussion of portraits in various contexts, such as art, psychology, sociology, or history. If you have any medical questions or terms you would like me to define, please don't hesitate to ask!

"Medicine in Art" is not a medical term per se, but rather a term used to describe the intersection and representation of medical themes, practices, or symbols in various art forms. It can include but is not limited to:

1. The depiction of medical scenes, practitioners, or patients in paintings, sculptures, or photographs.
2. The use of medical imagery such as X-rays, MRIs, or anatomical drawings in mixed media works.
3. The exploration of medical issues, diseases, or treatments in conceptual art.
4. The creation of art by artists with medical conditions, which can provide insight into their experiences.
5. The use of art therapy as a healing modality in medical settings.

This term is often used in the context of art history, visual culture, and medical humanities to analyze and understand the complex relationships between art, medicine, and society.

"Solidago" is the genus name for a group of flowering plants commonly known as goldenrods. These plants are native to North America and are known for their tall, slender stems and bright yellow flowers that bloom in the late summer and fall. While "Solidago" is a scientific name and not a medical term per se, some species of Solidago have been used in traditional medicine for their alleged medicinal properties. For example, Solidago virgaurea (European goldenrod) has been used in herbal medicine as a diuretic, astringent, and anti-inflammatory agent. However, it's important to note that the effectiveness of Solidago for medicinal purposes is not well-established by scientific research, and its use as a treatment for any medical condition should be discussed with a healthcare provider.

Myasthenia Gravis is a long-term autoimmune neuromuscular disorder that leads to muscle weakness. It occurs when communication between nerves and muscles is disrupted at the nerve endings, resulting in fewer impulses being transmitted to activate the muscles. This results in muscle weakness and rapid fatigue. The condition can affect any voluntary muscle, but it most commonly affects muscles of the eyes, face, throat, and limbs. Symptoms may include drooping eyelids (ptosis), double vision (diplopia), difficulty swallowing, slurred speech, and weakness in the arms and legs. The severity of symptoms can vary greatly from person to person, ranging from mild to life-threatening.

The disorder is caused by an abnormal immune system response that produces antibodies against the acetylcholine receptors in the postsynaptic membrane of the neuromuscular junction. These antibodies block or destroy the receptors, which leads to a decrease in the number of available receptors for nerve impulses to activate the muscle fibers.

Myasthenia Gravis can be treated with medications that improve communication between nerves and muscles, such as cholinesterase inhibitors, immunosuppressants, and plasmapheresis or intravenous immunoglobulin (IVIG) to remove the harmful antibodies from the blood. With proper treatment, many people with Myasthenia Gravis can lead normal or nearly normal lives.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Cholinergic receptors are a type of receptor in the body that are activated by the neurotransmitter acetylcholine. Acetylcholine is a chemical that nerve cells use to communicate with each other and with muscles. There are two main types of cholinergic receptors: muscarinic and nicotinic.

Muscarinic receptors are found in the heart, smooth muscle, glands, and the central nervous system. They are activated by muscarine, a type of alkaloid found in certain mushrooms. When muscarinic receptors are activated, they can cause changes in heart rate, blood pressure, and other bodily functions.

Nicotinic receptors are found in the nervous system and at the junction between nerves and muscles (the neuromuscular junction). They are activated by nicotine, a type of alkaloid found in tobacco plants. When nicotinic receptors are activated, they can cause the release of neurotransmitters and the contraction of muscles.

Cholinergic receptors play an important role in many physiological processes, including learning, memory, and movement. They are also targets for drugs used to treat a variety of medical conditions, such as Alzheimer's disease, Parkinson's disease, and myasthenia gravis (a disorder that causes muscle weakness).

A motor endplate, also known as the neuromuscular junction, is the site where a motor neuron's axon terminal synapses with a muscle fiber. It is a specialized chemical synapse that allows for the transmission of electrical signals from the nervous system to the skeletal muscles, resulting in muscle contraction. The motor endplate is composed of several structures including the presynaptic membrane, which contains neurotransmitter-filled vesicles, and the postsynaptic membrane, which contains numerous nicotinic acetylcholine receptors. When an action potential reaches the axon terminal, it triggers the release of acetylcholine into the synaptic cleft, where it binds to receptors on the postsynaptic membrane and causes the opening of ion channels, leading to the generation of an endplate potential that can trigger muscle contraction.

Neuromuscular junction diseases are a group of disorders that affect the functioning of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles. These diseases are characterized by muscle weakness and fatigue, and can be caused by various factors such as autoimmune disorders, genetic mutations, or toxins.

Examples of neuromuscular junction diseases include myasthenia gravis, Lambert-Eaton myasthenic syndrome (LEMS), congenital myasthenic syndromes (CMS), and botulism. Myasthenia gravis is an autoimmune disorder that causes the immune system to attack the receptors in the neuromuscular junction, leading to muscle weakness and fatigue. LEMS is a rare autoimmune disorder that affects the nerve endings at the neuromuscular junction, causing muscle weakness and decreased reflexes.

Congenital myasthenic syndromes are genetic disorders that affect the functioning of the neuromuscular junction from birth, leading to muscle weakness and fatigue. Botulism is a rare but serious condition caused by the ingestion of botulinum toxin, which can lead to paralysis of the muscles due to interference with nerve impulse transmission at the neuromuscular junction.

Treatment for neuromuscular junction diseases may include medications such as cholinesterase inhibitors, immunosuppressive drugs, or plasma exchange therapy, depending on the specific diagnosis and severity of the condition.

Paraneoplastic syndromes refer to a group of rare disorders that are caused by an abnormal immune system response to a cancerous (malignant) tumor. These syndromes are characterized by symptoms or signs that do not result directly from the growth of the tumor itself, but rather from substances produced by the tumor or the body's immune system in response to the tumor.

Paraneoplastic syndromes can affect various organs and systems in the body, including the nervous system, endocrine system, skin, and joints. Examples of paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome (LEMS), which affects nerve function and causes muscle weakness; cerebellar degeneration, which can cause difficulty with coordination and balance; and dermatomyositis, which is an inflammatory condition that affects the skin and muscles.

Paraneoplastic syndromes can occur in association with a variety of different types of cancer, including lung cancer, breast cancer, ovarian cancer, and lymphoma. Treatment typically involves addressing the underlying cancer, as well as managing the symptoms of the paraneoplastic syndrome.

The neuromuscular junction (NMJ) is the specialized synapse or chemical communication point, where the motor neuron's nerve terminal (presynaptic element) meets the muscle fiber's motor end plate (postsynaptic element). This junction plays a crucial role in controlling muscle contraction and relaxation.

At the NMJ, the neurotransmitter acetylcholine is released from the presynaptic nerve terminal into the synaptic cleft, following an action potential. Acetylcholine then binds to nicotinic acetylcholine receptors on the postsynaptic membrane of the muscle fiber, leading to the generation of an end-plate potential. If sufficient end-plate potentials are generated and summate, they will trigger an action potential in the muscle fiber, ultimately causing muscle contraction.

Dysfunction at the neuromuscular junction can result in various neuromuscular disorders, such as myasthenia gravis, where autoantibodies attack acetylcholine receptors, leading to muscle weakness and fatigue.

Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.

Examples of muscular diseases include:

1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.

It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.

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

Muscle weakness is a condition in which muscles cannot develop the expected level of physical force or power. This results in reduced muscle function and can be caused by various factors, including nerve damage, muscle diseases, or hormonal imbalances. Muscle weakness may manifest as difficulty lifting objects, maintaining posture, or performing daily activities. It is essential to consult a healthcare professional for proper diagnosis and treatment of muscle weakness.

Acetylcholinesterase (AChE) is an enzyme that catalyzes the hydrolysis of acetylcholine (ACh), a neurotransmitter, into choline and acetic acid. This enzyme plays a crucial role in regulating the transmission of nerve impulses across the synapse, the junction between two neurons or between a neuron and a muscle fiber.

Acetylcholinesterase is located in the synaptic cleft, the narrow gap between the presynaptic and postsynaptic membranes. When ACh is released from the presynaptic membrane and binds to receptors on the postsynaptic membrane, it triggers a response in the target cell. Acetylcholinesterase rapidly breaks down ACh, terminating its action and allowing for rapid cycling of neurotransmission.

Inhibition of acetylcholinesterase leads to an accumulation of ACh in the synaptic cleft, prolonging its effects on the postsynaptic membrane. This can result in excessive stimulation of cholinergic receptors and overactivation of the cholinergic system, which may cause a range of symptoms, including muscle weakness, fasciculations, sweating, salivation, lacrimation, urination, defecation, bradycardia, and bronchoconstriction.

Acetylcholinesterase inhibitors are used in the treatment of various medical conditions, such as Alzheimer's disease, myasthenia gravis, and glaucoma. However, they can also be used as chemical weapons, such as nerve agents, due to their ability to disrupt the nervous system and cause severe toxicity.

Carcinoma, small cell is a type of lung cancer that typically starts in the bronchi (the airways that lead to the lungs). It is called "small cell" because the cancer cells are small and appear round or oval in shape. This type of lung cancer is also sometimes referred to as "oat cell carcinoma" due to the distinctive appearance of the cells, which can resemble oats when viewed under a microscope.

Small cell carcinoma is a particularly aggressive form of lung cancer that tends to spread quickly to other parts of the body. It is strongly associated with smoking and is less common than non-small cell lung cancer (NSCLC), which accounts for about 85% of all lung cancers.

Like other types of lung cancer, small cell carcinoma may not cause any symptoms in its early stages. However, as the tumor grows and spreads, it can cause a variety of symptoms, including coughing, chest pain, shortness of breath, hoarseness, and weight loss. Treatment for small cell carcinoma typically involves a combination of chemotherapy, radiation therapy, and sometimes surgery.

Choline O-Acetyltransferase (COAT, ChAT) is an enzyme that plays a crucial role in the synthesis of the neurotransmitter acetylcholine. It catalyzes the transfer of an acetyl group from acetyl CoA to choline, resulting in the formation of acetylcholine. Acetylcholine is a vital neurotransmitter involved in various physiological processes such as memory, cognition, and muscle contraction. COAT is primarily located in cholinergic neurons, which are nerve cells that use acetylcholine to transmit signals to other neurons or muscles. Inhibition of ChAT can lead to a decrease in acetylcholine levels and may contribute to neurological disorders such as Alzheimer's disease and myasthenia gravis.

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.

Cholinesterase inhibitors are a class of drugs that work by blocking the action of cholinesterase, an enzyme that breaks down the neurotransmitter acetylcholine in the body. By inhibiting this enzyme, the levels of acetylcholine in the brain increase, which can help to improve symptoms of cognitive decline and memory loss associated with conditions such as Alzheimer's disease and other forms of dementia.

Cholinesterase inhibitors are also used to treat other medical conditions, including myasthenia gravis, a neuromuscular disorder that causes muscle weakness, and glaucoma, a condition that affects the optic nerve and can lead to vision loss. Some examples of cholinesterase inhibitors include donepezil (Aricept), galantamine (Razadyne), and rivastigmine (Exelon).

It's important to note that while cholinesterase inhibitors can help to improve symptoms in some people with dementia, they do not cure the underlying condition or stop its progression. Side effects of these drugs may include nausea, vomiting, diarrhea, and increased salivation. In rare cases, they may also cause seizures, fainting, or cardiac arrhythmias.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Muscle proteins are a type of protein that are found in muscle tissue and are responsible for providing structure, strength, and functionality to muscles. The two major types of muscle proteins are:

1. Contractile proteins: These include actin and myosin, which are responsible for the contraction and relaxation of muscles. They work together to cause muscle movement by sliding along each other and shortening the muscle fibers.
2. Structural proteins: These include titin, nebulin, and desmin, which provide structural support and stability to muscle fibers. Titin is the largest protein in the human body and acts as a molecular spring that helps maintain the integrity of the sarcomere (the basic unit of muscle contraction). Nebulin helps regulate the length of the sarcomere, while desmin forms a network of filaments that connects adjacent muscle fibers together.

Overall, muscle proteins play a critical role in maintaining muscle health and function, and their dysregulation can lead to various muscle-related disorders such as muscular dystrophy, myopathies, and sarcopenia.

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

Nicotinic receptors are a type of ligand-gated ion channel receptor that are activated by the neurotransmitter acetylcholine and the alkaloid nicotine. They are widely distributed throughout the nervous system and play important roles in various physiological processes, including neuronal excitability, neurotransmitter release, and cognitive functions such as learning and memory. Nicotinic receptors are composed of five subunits that form a ion channel pore, which opens to allow the flow of cations (positively charged ions) when the receptor is activated by acetylcholine or nicotine. There are several subtypes of nicotinic receptors, which differ in their subunit composition and functional properties. These receptors have been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and schizophrenia.

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.

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.

4-Aminopyridine is a type of medication that is used to treat symptoms of certain neurological disorders, such as multiple sclerosis or spinal cord injuries. It works by blocking the action of potassium channels in nerve cells, which helps to improve the transmission of nerve impulses and enhance muscle function.

The chemical name for 4-Aminopyridine is 4-AP or fampridine. It is available as a prescription medication in some countries and can be taken orally in the form of tablets or capsules. Common side effects of 4-Aminopyridine include dizziness, lightheadedness, and numbness or tingling sensations in the hands or feet.

It is important to note that 4-Aminopyridine should only be used under the supervision of a healthcare professional, as it can have serious side effects if not used properly.

Bungarotoxins are a group of neurotoxins that come from the venom of some species of elapid snakes, particularly members of the genus Bungarus, which includes kraits. These toxins specifically bind to and inhibit the function of nicotinic acetylcholine receptors (nAChRs), which are crucial for the transmission of signals at the neuromuscular junction.

There are three main types of bungarotoxins: α, β, and κ. Among these, α-bungarotoxin is the most well-studied. It binds irreversibly to the nicotinic acetylcholine receptors at the neuromuscular junction, preventing the binding of acetylcholine and thus blocking nerve impulse transmission. This results in paralysis and can ultimately lead to respiratory failure and death in severe cases.

Bungarotoxins are widely used in research as molecular tools to study the structure and function of nicotinic acetylcholine receptors, helping us better understand neuromuscular transmission and develop potential therapeutic strategies for various neurological disorders.

Acetylcholine is a neurotransmitter, a type of chemical messenger that transmits signals across a chemical synapse from one neuron (nerve cell) to another "target" neuron, muscle cell, or gland cell. It is involved in both peripheral and central nervous system functions.

In the peripheral nervous system, acetylcholine acts as a neurotransmitter at the neuromuscular junction, where it transmits signals from motor neurons to activate muscles. Acetylcholine also acts as a neurotransmitter in the autonomic nervous system, where it is involved in both the sympathetic and parasympathetic systems.

In the central nervous system, acetylcholine plays a role in learning, memory, attention, and arousal. Disruptions in cholinergic neurotransmission have been implicated in several neurological disorders, including Alzheimer's disease, Parkinson's disease, and myasthenia gravis.

Acetylcholine is synthesized from choline and acetyl-CoA by the enzyme choline acetyltransferase and is stored in vesicles at the presynaptic terminal of the neuron. When a nerve impulse arrives, the vesicles fuse with the presynaptic membrane, releasing acetylcholine into the synapse. The acetylcholine then binds to receptors on the postsynaptic membrane, triggering a response in the target cell. Acetylcholine is subsequently degraded by the enzyme acetylcholinesterase, which terminates its action and allows for signal transduction to be repeated.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

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.

Patch-clamp techniques are a group of electrophysiological methods used to study ion channels and other electrical properties of cells. These techniques were developed by Erwin Neher and Bert Sakmann, who were awarded the Nobel Prize in Physiology or Medicine in 1991 for their work. The basic principle of patch-clamp techniques involves creating a high resistance seal between a glass micropipette and the cell membrane, allowing for the measurement of current flowing through individual ion channels or groups of channels.

There are several different configurations of patch-clamp techniques, including:

1. Cell-attached configuration: In this configuration, the micropipette is attached to the outer surface of the cell membrane, and the current flowing across a single ion channel can be measured. This configuration allows for the study of the properties of individual channels in their native environment.
2. Whole-cell configuration: Here, the micropipette breaks through the cell membrane, creating a low resistance electrical connection between the pipette and the inside of the cell. This configuration allows for the measurement of the total current flowing across all ion channels in the cell membrane.
3. Inside-out configuration: In this configuration, the micropipette is pulled away from the cell after establishing a seal, resulting in the exposure of the inner surface of the cell membrane to the solution in the pipette. This configuration allows for the study of the properties of ion channels in isolation from other cellular components.
4. Outside-out configuration: Here, the micropipette is pulled away from the cell after establishing a seal, resulting in the exposure of the outer surface of the cell membrane to the solution in the pipette. This configuration allows for the study of the properties of ion channels in their native environment, but with the ability to control the composition of the extracellular solution.

Patch-clamp techniques have been instrumental in advancing our understanding of ion channel function and have contributed to numerous breakthroughs in neuroscience, pharmacology, and physiology.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

Calcium channels are specialized proteins that span the membrane of cells and allow calcium ions (Ca²+) to flow in and out of the cell. They are crucial for many physiological processes, including muscle contraction, neurotransmitter release, hormone secretion, and gene expression.

There are several types of calcium channels, classified based on their biophysical and pharmacological properties. The most well-known are:

1. Voltage-gated calcium channels (VGCCs): These channels are activated by changes in the membrane potential. They are further divided into several subtypes, including L-type, P/Q-type, N-type, R-type, and T-type. VGCCs play a critical role in excitation-contraction coupling in muscle cells and neurotransmitter release in neurons.
2. Receptor-operated calcium channels (ROCCs): These channels are activated by the binding of an extracellular ligand, such as a hormone or neurotransmitter, to a specific receptor on the cell surface. ROCCs are involved in various physiological processes, including smooth muscle contraction and platelet activation.
3. Store-operated calcium channels (SOCCs): These channels are activated by the depletion of intracellular calcium stores, such as those found in the endoplasmic reticulum. SOCCs play a critical role in maintaining calcium homeostasis and signaling within cells.

Dysregulation of calcium channel function has been implicated in various diseases, including hypertension, arrhythmias, migraine, epilepsy, and neurodegenerative disorders. Therefore, calcium channels are an important target for drug development and therapy.

Synaptic transmission is the process by which a neuron communicates with another cell, such as another neuron or a muscle cell, across a junction called a synapse. It involves the release of neurotransmitters from the presynaptic terminal of the neuron, which then cross the synaptic cleft and bind to receptors on the postsynaptic cell, leading to changes in the electrical or chemical properties of the target cell. This process is critical for the transmission of signals within the nervous system and for controlling various physiological functions in the body.

Lung neoplasms refer to abnormal growths or tumors in the lung tissue. These tumors can be benign (non-cancerous) or malignant (cancerous). Malignant lung neoplasms are further classified into two main types: small cell lung carcinoma and non-small cell lung carcinoma. Lung neoplasms can cause symptoms such as cough, chest pain, shortness of breath, and weight loss. They are often caused by smoking or exposure to secondhand smoke, but can also occur due to genetic factors, radiation exposure, and other environmental carcinogens. Early detection and treatment of lung neoplasms is crucial for improving outcomes and survival rates.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.

An action potential is a brief electrical signal that travels along the membrane of a nerve cell (neuron) or muscle cell. It is initiated by a rapid, localized change in the permeability of the cell membrane to specific ions, such as sodium and potassium, resulting in a rapid influx of sodium ions and a subsequent efflux of potassium ions. This ion movement causes a brief reversal of the electrical potential across the membrane, which is known as depolarization. The action potential then propagates along the cell membrane as a wave, allowing the electrical signal to be transmitted over long distances within the body. Action potentials play a crucial role in the communication and functioning of the nervous system and muscle tissue.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Lambert-Eaton-Rooke syndrome at Who Named It? Lambert EH, Eaton LM, Rooke ED (1956). "Defect of neuromuscular conduction ... Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs. Around 60 ... Lindquist, S; Stangel, M; Ullah, I (2011). "Update on treatment options for Lambert-Eaton myasthenic syndrome: focus on use of ... Motomura M, Hamasaki S, Nakane S, Fukuda T, Nakao YK (August 2000). "Apheresis treatment in Lambert-Eaton myasthenic syndrome ...
Lindquist, S; Stangel, M; Ullah, I (2011). "Update on treatment options for Lambert-Eaton myasthenic syndrome: focus on use of ... The drug is used to treat Lambert-Eaton myasthenic syndrome (LEMS), which is a rare neuromuscular disorder characterized by ... The FDA approved amifampridine for the treatment of adults with Lambert-Eaton myasthenic syndrome on November 29, 2018. In 2018 ... The drug is used to treat Lambert-Eaton myasthenic syndrome (LEMS), which is a rare neuromuscular disorder. "Catalyst ...
... cell carcinomas will often secrete substances that result in paraneoplastic syndromes such as Lambert-Eaton myasthenic syndrome ... "Lambert-Eaton Myasthenic Syndrome". The Lecturio Medical Concept Library. Retrieved 1 August 2021. Ismaili N (November 2011). " ... Approximately half of all individuals diagnosed with Lambert-Eaton myasthenic syndrome (LEMS) will eventually be found to have ... Titulaer MJ, Verschuuren JJ (2008). "Lambert-Eaton myasthenic syndrome: tumor versus nontumor forms". Annals of the New York ...
A different condition, Lambert-Eaton myasthenic syndrome, is usually associated with presynaptic antibodies to the voltage- ... "Lambert-Eaton Myasthenic Syndrome". The Lecturio Medical Concept Library. Retrieved 1 August 2021. (Wikipedia references ... Sha SJ, Layzer RB (July 2007). "Myasthenia gravis and Lambert-Eaton myasthenic syndrome in the same patient". Muscle Nerve. 36 ... Lambert-Eaton myasthenic syndrome (LEMS) is similar to myasthenia gravis in that it is an immune-mediated response acting ...
The free base form of the drug has been used to treat congenital myasthenic syndromes and Lambert-Eaton myasthenic syndrome ( ... In Lambert-Eaton myasthenic syndrome, acetylcholine release is inhibited as antibodies involved in the host response against ... It is also used to treat symptoms of Lambert-Eaton myasthenic syndrome. Because it affects voltage-gated ion channels in the ... Amifampridine phosphate has orphan drug status in the EU for Lambert-Eaton myasthenic syndrome and Catalyst holds both an ...
Beryl Sprinkel, 85, American economist, Lambert-Eaton myasthenic syndrome. Adrien Zeller, 69, French politician and humanist, ...
Lambert-Eaton Myasthenic Syndrome (LEMS) at eMedicine Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2014-09-05). Robbins & ... and its related condition Lambert-Eaton myasthenic syndrome (LEMS). Tetanus and botulism are bacterial infections in which ... "Neuromuscular involvement in various types of Ehlers-Danlos syndrome". Annals of Neurology. 65 (6): 687-97. doi:10.1002/ana. ... genetic/hereditary disorders and some forms of the collagen disorder Ehlers-Danlos syndrome, exposure to environmental ...
Shin J Oh (2005). "Electrophysiological diagnostic criteria of Lambert-Eaton myasthenic syndrome". Muscle & Nerve. 32 (4): 515- ... Shin J Oh (2005). "Electrophysiological diagnostic criteria of Lambert-Eaton myasthenic syndrome". Muscle & Nerve. 32 (4): 515- ... Establishing new electrophysiological diagnostic criteria for Lambert-Eaton myasthenic syndrome (LEMS) by statistical analysis ... with electrophysiological characteristics of Lambert-Eaton myasthenic syndrome (LEMS)(LOS)." The report of five newly termed ...
"Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol. 33 (1): 113-20. doi:10.1002/ana. ... GeneReviews/NIH/NCBI/UW entry on Brugada syndrome CACNB2+protein,+human at the U.S. National Library of Medicine Medical ... Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), ...
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder that affects the presynaptic portion of the neuromuscular ... Luigetti M, Modoni A, Lo Monaco M (October 2012). "Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: ... Titulaer MJ, Lang B, Verschuuren JJ (December 2011). "Lambert-Eaton myasthenic syndrome: from clinical characteristics to ... Congenital myasthenic syndromes (CMS) are very similar to both MG and LEMS in their functions, but the primary difference ...
1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann. Neurol. 33 (1): 113-20. doi:10.1002/ ...
O'Suilleabhain P, Low PA, Lennon VA (January 1998). "Autonomic dysfunction in the Lambert-Eaton myasthenic syndrome: serologic ... or antibody studies may help with the exclusion of myasthenia gravis and Lambert-Eaton myasthenic syndrome (LEMS). Collection ... such as Guillain-Barré syndrome, stroke, and myasthenia gravis.[citation needed] Depending on the type of botulism considered, ... "A Clostridium botulinum type B vaccine for prevention of shaker foal syndrome". Australian Veterinary Journal. 65 (3): 78-80. ...
Fampridine has been used clinically in Lambert-Eaton myasthenic syndrome and multiple sclerosis. It acts by blocking voltage- ...
Diseases associated with hyporeflexia include Centronuclear myopathy Guillain-Barré syndrome Lambert-Eaton myasthenic syndrome ... the Lambert-Eaton myasthenic syndrome]". Nederlands Tijdschrift voor Geneeskunde. 145 (2): 57-61. ISSN 0028-2162. PMID 11225256 ...
... and Lambert-Eaton myasthenic syndrome. There are several possible mechanisms that underlie the nervous system manifestations of ... These syndromes encompass disorders of the central and peripheral nervous systems: Each of the 19 syndromes are also stand- ... Mononeuropathy and polyneuropathy are the most common PNS syndromes. Some neurological syndromes outside of the ACR ... Specific syndromes may be vasculopathic, autoantibody-mediated, or inflammatory in nature. There is evidence that the blood- ...
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease in which auto-antibodies are directed against voltage-gated ... "Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome". Clinical ... Carpal tunnel syndrome (CTS) is a form of nerve compression syndrome caused by the compression of the median nerve at the wrist ... Carpal tunnel syndrome presents in each individual to different extents. Measurements of nerve conduction velocity are critical ...
Lambert-Eaton myasthenic syndrome (LEMS), is similar to myasthenia gravis in that it is an autoimmune disease. However, in LEMS ... is used to differentiate myasthenia gravis from cholinergic crisis and Lambert-Eaton. In myasthenia gravis, the body produces ...
He ran a clinic for neurological paraneoplastic syndromes, myasthenia gravis, neuromyotonia, Lambert-Eaton myasthenic syndrome ...
Lambert-Eaton myasthenic syndrome and sarcoidosis The DRB1*0301/DRB1*1501 heterozygote is linked to primary Sjögren's syndrome ... "Increased frequency of HLA class II alleles DRB1*0301 and DQB1*0201 in Lambert-Eaton myasthenic syndrome without associated ... "DRB1*15 and DRB1*03 extended haplotype interaction in primary Sjögren's syndrome genetic susceptibility". Clin Exp Rheumatol. ...
Sprinkel died on August 22, 2009, aged 85, from Lambert-Eaton myasthenic syndrome in a nursing and rehabilitation center in ...
... s antibodies are associated with Lambert-Eaton myasthenic syndrome and have also been implicated ... are associated with a variant of long QT syndrome called Timothy's syndrome and also with Brugada syndrome. Large-scale genetic ... Pagon RA, Bird TC, Dolan CR, Stephens K, Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R (1993). "Timothy Syndrome". ... Voltage-gated calcium channels are also associated with malignant hyperthermia and Timothy syndrome. Mutations of the CACNA1C ...
The principal autoimmune diseases studied were myasthenia gravis, the Lambert-Eaton myasthenic syndrome, limbic encephalitis, ...
The term may also refer to: Myasthenia gravis Ocular myasthenia Lambert-Eaton myasthenic syndrome This disambiguation page ...
... including Lambert-Eaton myasthenic syndrome, myasthenia gravis, and the muscle form of sarcoidosis. Although idiopathic ... congenital myasthenic syndrome, nutritional imbalances, and infection. Acquired non-inflammatory myopathy Myositis Szczęsny P, ...
... including Cushing syndrome, SIADH, and Lambert-Eaton myasthenic syndrome. The condition was first identified in 1985 at the ... Opsoclonus-myoclonus syndrome (OMS) is a condition that develops in children as a result of anti-Hu antibodies. The illness ... In a paraneoplastic syndrome, a cancer cell can create proteins that are normally only found as naturally-occurring proteins in ... Kanaji N, Watanabe N, Kita N, Bandoh S, Tadokoro A, Ishii T, Dobashi H, Matsunaga T (2014). "Paraneoplastic syndromes ...
Lambert-Eaton myasthenic syndrome (LEMS) and ocular myasthenia. The charity was established May 1976. The charity supports ...
... best known for his description of the Lambert-Eaton myasthenic syndrome and regarded as one of the founders of electromyography ... "Lambert Eaton Myasthenic Syndrome", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29939668, retrieved 2022-07- ... were the first to describe the clinical and EMG characteristics of the disease now known as Lambert-Eaton myasthenic syndrome. ... "Edward M. Lambert". Annals of Neurology. 54 (5): 690. "Generous Donation Honors Dr. Edward H. Lambert" (PDF). Tribune, Tim ...
In January 2023, Jake Mauer II passed away from lung cancer and Lambert-Eaton myasthenic syndrome Joe's cousin, Ken Mauer, is a ... The game's tagline, "Well played, Mauer", used by actor Jerry Lambert (playing the role of fictional vice president Kevin ...
Lambert-Eaton myasthenic syndrome) and central nervous system (e.g. paraneoplastic cerebellar degeneration, paraneoplastic ... benign fasciculation syndrome, cramp fasciculation syndrome, neuromyotonia and morvan's syndrome. Some doctors will only give ... Example of two more common and less severe syndromes in the spectrum are Cramp Fasciculation Syndrome and Benign Fasciculation ... 2010). "NINDS Isaac's syndrome information page". Archived from the original on 12 April 2011. Retrieved 8 May 2011. Maddison P ...
The following diseases manifest by means of neurological dysfunction: Lambert-Eaton myasthenic syndrome, paraneoplastic ... A paraneoplastic syndrome is a syndrome (a set of signs and symptoms) that is the consequence of a tumor in the body (usually a ... Paraneoplastic Syndromes, 2011, Darnell & Posner NINDS Paraneoplastic Syndromes Information Page Archived 2015-01-04 at the ... The following diseases manifest by means of endocrine dysfunction: Cushing syndrome, syndrome of inappropriate antidiuretic ...
Lambert-Eaton-Rooke syndrome at Who Named It? Lambert EH, Eaton LM, Rooke ED (1956). "Defect of neuromuscular conduction ... Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs. Around 60 ... Lindquist, S; Stangel, M; Ullah, I (2011). "Update on treatment options for Lambert-Eaton myasthenic syndrome: focus on use of ... Motomura M, Hamasaki S, Nakane S, Fukuda T, Nakao YK (August 2000). "Apheresis treatment in Lambert-Eaton myasthenic syndrome ...
Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of neuromuscular transmission in which quantal release ... encoded search term (Lambert-Eaton Myasthenic Syndrome (LEMS)) and Lambert-Eaton Myasthenic Syndrome (LEMS) What to Read Next ... Lambert-Eaton Myasthenic Syndrome (LEMS). Updated: May 23, 2019 * Author: David E Stickler, MD; Chief Editor: Nicholas Lorenzo ... Complete reversal of Lambert-Eaton myasthenic syndrome synaptic impairment by the combined use of a K+ channel blocker and a ...
FDA approves first treatment for children with Lambert-Eaton myasthenic syndrome, a rare autoimmune disorder ... FDA approves first treatment for children with Lambert-Eaton myasthenic syndrome, a rare autoimmune disorder. * Share ... FDA approves first treatment for children with Lambert-Eaton myasthenic syndrome, a rare autoimmune disorder ... National Institute of Neurological Disorders and Stroke: Lambert-Eaton Myasthenic Syndrome Information Page ...
MG Lambert- Eaton Interpretation, S, ACh Receptor (Muscle) Binding Ab, P/Q-Type Calcium Channel Ab, AChR Modulating Flow ...
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease that damages the neuromuscular junction and causes ... Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease in which the bodys immune system attacks the tissue where ...
Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of neuromuscular transmission in which quantal release ... encoded search term (Lambert-Eaton Myasthenic Syndrome (LEMS)) and Lambert-Eaton Myasthenic Syndrome (LEMS) What to Read Next ... Lambert-Eaton Myasthenic Syndrome (LEMS). Updated: May 23, 2019 * Author: David E Stickler, MD; Chief Editor: Nicholas Lorenzo ... Complete reversal of Lambert-Eaton myasthenic syndrome synaptic impairment by the combined use of a K+ channel blocker and a ...
Plasma exchange and immunosuppressive drug treatment in the LambertEaton myasthenic syndrome. John Newsom-Davis, Nicholas MF ... Plasma exchange and immunosuppressive drug treatment in the LambertEaton myasthenic syndrome ... amplitude assessments in nine patients with the Lambert-Eaton myasthenic syndrome (LEMS) over 0.5 to 2.5 years who received ...
Although amifampridine is probably the first-line drug for this rare syndrome, there is limited evidence of efficacy. ... Approved indication: Lambert-Eaton myasthenic syndrome. Ruzurgi (Lacuna). 10 mg tablets. Lambert-Eaton myasthenic syndrome can ... Lambert-Eaton myasthenic syndrome is very rare so trials of drug therapy are small. A phase II trial randomised 12 patients to ... Amifampridine has been used, through the Special Access Scheme, to manage the symptoms of Lambert-Eaton myasthenic syndrome. It ...
Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of neuromuscular transmission in which quantal release ... encoded search term (Lambert-Eaton Myasthenic Syndrome (LEMS)) and Lambert-Eaton Myasthenic Syndrome (LEMS) What to Read Next ... Lambert-Eaton Myasthenic Syndrome (LEMS). Updated: May 06, 2016 * Author: David E Stickler, MD; Chief Editor: Nicholas Lorenzo ... Complete reversal of Lambert-Eaton myasthenic syndrome synaptic impairment by the combined use of a K+ channel blocker and a ...
Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of neuromuscular transmission in which quantal release ... encoded search term (Lambert-Eaton Myasthenic Syndrome (LEMS)) and Lambert-Eaton Myasthenic Syndrome (LEMS) What to Read Next ... Lambert-Eaton Myasthenic Syndrome (LEMS). Updated: May 06, 2016 * Author: David E Stickler, MD; Chief Editor: Nicholas Lorenzo ... Complete reversal of Lambert-Eaton myasthenic syndrome synaptic impairment by the combined use of a K+ channel blocker and a ...
Paraneoplastic syndromes are a group of syndromes that develop in some people with cancer. Learn about types linked to small ... Lambert-Eaton myasthenic syndrome: Lambert-Eaton myasthenic syndrome is a rare autoimmune condition that causes ... 2019). Long‐term follow‐up, quality of life, and survival of patients with LambertEaton myasthenic syndrome.. ... In a 2019 study, researchers found evidence that SCLC with Lambert-Eaton myasthenic syndrome was associated with better ...
Eaton myasthenic syndrome answers are found in the Cochrane Abstracts powered by Unbound Medicine. Available for iPhone, iPad, ... Eaton_myasthenic_syndrome. Accessed 10 December 2023.. Treatment for LambertEaton myasthenic syndrome. Cochrane Abstracts. ... myasthenic_syndrome. Accessed December 10, 2023.. Treatment for LambertEaton myasthenic syndrome. In Cochrane Abstracts https ... myasthenic_syndrome. Treatment for LambertEaton Myasthenic Syndrome [Internet]. In: Cochrane Abstracts. [cited 2023 December ...
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4-DAPP led to sustained or improvement in functioning among patients with Lambert-Eaton myasthenic syndrome. ... Among patients with Lambert-Eaton myasthenic syndrome (LEMS) in Europe, no new safety signals were reported after long-term ... No New Safety Signals With Long-Term 3,4-DAPP for Lambert-Eaton Myasthenic Syndrome. Ron Goldberg ... Meisel A, Sieb JP, Le Masson G, Postila V, Sacconi S. The European Lambert-Eaton Myasthenic Syndrome Registry: Long-term ...
Guillain-Barré syndrome. *Lambert-Eaton myasthenic syndrome. *Leigh syndrome. *Meningitis. *Miller-Fisher syndrome ... Botulism is frequently misdiagnosed, most often as a polyradiculoneuropathy (Guillain-Barré or Miller-Fisher syndrome), ...
"Lambert-Eaton Myasthenic Syndrome: About". LEMS.com. BioMarin Pharmaceutical Inc. Archived from the original on 20 January 2013 ... Disorders of the neuromuscular junction, such as myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome, may also mimic ... "Lambert-Eaton Myasthenic Syndrome (LEMS)". Misc.medscape.com. Archived from the original on 14 May 2013. Retrieved 18 April ... Flail arm syndrome, a regional variant of ALS, was first described by Alfred Vulpian in 1886. Flail leg syndrome, another ...
Lambert-Eaton myasthenic syndrome can present with other rare conditions. ... Home » Lambert-Eaton Myasthenic Syndrome » ICYMI: Case Study Demonstrates Lambert-Eaton Myasthenic Syndrome May be Linked to ... Home » Lambert-Eaton Myasthenic Syndrome » ICYMI: Case Study Demonstrates Lambert-Eaton Myasthenic Syndrome May be Linked to ... A recent study has found that Lambert-Eaton Myasthenic Syndrome (LEMS), a rare disease, could also be linked to another rare ...
Lambert-Eaton Myasthenic Syndrome (National Institute of Neurological Disorders and Stroke) * Neuromyelitis Optica (National ... About Antiphospholipid Syndrome (APS) (National Human Genome Research Institute) * Anti-GBM (Goodpastures) Disease (National ... Antiphospholipid Syndrome (APS) (National Heart, Lung, and Blood Institute) * Autoimmune Hepatitis (National Institute of ... Paraneoplastic Syndromes (National Institute of Neurological Disorders and Stroke) * Primary Biliary Cholangitis (Primary ...
The Lambert Eaton myasthenic syndrome (LEMS) is a paraneoplastic disorder associated with raised serum voltage-gated calcium ... INTRODUCTION: The Lambert Eaton myasthenic syndrome (LEMS) is a paraneoplastic disorder associated with raised serum voltage- ... Prospective study into the incidence of Lambert Eaton myasthenic syndrome in small cell lung cancer. ... Prospective study into the incidence of Lambert Eaton myasthenic syndrome in small cell lung cancer. ...
Lambert-Eaton myasthenic syndrome.[2]. Physical examination may identify enlarged supraclavicular lymphadenopathy, pleural ... Perry MC, Eaton WL, Propert KJ, et al.: Chemotherapy with or without radiation therapy in limited small-cell carcinoma of the ... Urban T, Lebeau B, Chastang C, et al.: Superior vena cava syndrome in small-cell lung cancer. Arch Intern Med 153 (3): 384-7, ... Infrequently, patients with SCLC may present with symptoms and signs of one of the following paraneoplastic syndromes:. * ...
Lambert-Eaton Myasthenic syndrome. *Inflammatory myopathy. *Muscular Dystrophy. *Myositis. *Neurofibromatosis. *Peripheral ...
Autoimmune paraneoplastic autonomic neuropathy is a rare paraneoplastic syndrome (PNS), which manifests as disturbance in ... Autonomic dysfunction in Lambert-Eaton myasthenic syndrome. J Neurol Sci. 1988 May. 85(1):77-86. [QxMD MEDLINE Link]. ... In Lambert-Eaton myasthenic syndrome (LEMS), antibodies against P/Q type voltage-gated calcium channels (VGCC) are present. ... and Lambert-Eaton myasthenic syndrome (LEMS). Each one of these disorders may have other distinct symptoms and findings in ...
LAMBERT EATON MYASTHENIC SYNDROME. Lambert Eaton myasthenic syndrome is another autoimmune disease that affects the ... of intravenous immunoglobulin on muscle weakness and calcium-channel autoantibodies in the Lambert-Eaton myasthenic syndrome. ... Lewis Sumner Syndrome. Lewis Sumner syndrome is characterized by a persistently asymmetric, multifocal pattern of sensory and ... Both plasma exchange and IVIG are used in the management of myasthenic crisis because of their rapid clinical benefit. A ...
Small-cell lung cancer, paraneoplastic cerebellar degeneration and the Lambert-Eaton myasthenic syndrome. Brain. 1997;120(Pt8): ... Anti-VGCC Abs were first described in 1992 in association with Lambert-Eaton myasthenia syndrome (LESM) [38]. However, the ... Cerebellar degeneration, cancer, and the Lambert-Eaton myasthenic syndrome. Neurology. 1992;42(10):1944-50. https://doi.org/ ... and stiff-person syndrome (SPS) [19,20,21,22,23]. The overlap syndromes are observed during long follow-up in 14-36% of the CA ...
Myasthenic (Eaton-Lambert) syndrome in association with an indolent non-Hodgkins lymphoma.﻽. Liesveld JL, Stern A, Rosenthal ... Hypereosinophilic syndromes: an update.﻽. Liesveld JL, Abboud CN. International journal of clinical & laboratory research. 1992 ... Myelodysplastic syndromes disable human CD271 VCAM1 CD146 niches supporting normal hematopoietic stem/progenitor cells.﻽. ... State of the art; the hypereosinophilic syndromes.﻽. Liesveld JL, Abboud CN. Blood reviews.. 1991 March 5 (1):29-37. Epub 1900 ...
Lambert-Eaton myasthenic syndrome. Subacute in onset. Associated autonomic symptoms in LEMS ... McManis PG, Lambert EH, Daube JR. The exercise test in periodic paralysis. Muscle Nerve. 1986 Oct. 9(8):704-10. [QxMD MEDLINE ... Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004. 36 Suppl 1:92-7 ... Engel AG, Lambert EH, Rosevear JW, Tauxe WN. Clinical and electromyographic studies in a patient with primary hypokalemic ...
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease that reduces reliability, leading to muscle weakness. This ...
Calcium channel autoantibodies in the lamberteaton myasthenic syndrome.. Annals of Neurology, 29(3) pp. 307-314. ...
Sequential fluctuating paraneoplastic ocular fluttr - opsoclonus - myoclonus syndrome and Lambert - Eaton myasthenic syndrome ... Paraneoplastic cerebellar degeneration may occur in association with Lambert-Eaton myasthenic syndrome (LEMS), but to our ... ocular flutter-opsoclonus-myoclonus syndrome in association with treatment-sensitive Lambert-Eaton myasthenic syndrome ... knowledge, the co-occurrence of paraneoplastic opsoclonus-myoclonus syndrome and LEMS has not been previously reported. A 67- ...
Lambert-Eaton Myasthenic Syndrome. Neurol Clin. 2018;36(2):379-394. PubMed ... Guillain-Barré syndrome. N Engl J Med 2012; 366:2294. New England Journal of Medicine ... Paraneoplastic syndromes affecting peripheral nerve and muscle. UpToDate, last updated Dec 12, 2017. UpToDate ... Cardiovascular complications of the Guillain-Barré syndrome. Am J Cardiol 2009; 104:1452. PubMed ...
  • Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs. (wikipedia.org)
  • LEMS is often associated with lung cancer (50-70%), specifically small-cell carcinoma, making LEMS a paraneoplastic syndrome. (wikipedia.org)
  • Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of neuromuscular transmission in which quantal release of acetylcholine (ACh) is impaired, causing a unique set of clinical characteristics, which include proximal muscle weakness, depressed tendon reflexes, posttetanic potentiation, and autonomic changes. (medscape.com)
  • The U.S. Food and Drug Administration today approved Ruzurgi (amifampridine) tablets for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) in patients 6 to less than 17 years of age. (fda.gov)
  • Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease in which the body's immune system attacks the tissue where nerves and muscles meet, the neuromuscular junction. (uky.edu)
  • Among patients with Lambert-Eaton myasthenic syndrome (LEMS) in Europe, no new safety signals were reported after long-term management, according to study findings published in Neurology and Therapy . (neurologyadvisor.com)
  • A recent study has found that Lambert-Eaton Myasthenic Syndrome (LEMS) , a rare disease, could also be linked to another rare condition- Merkel cell carcinoma (MCC) which is a type of skin cancer. (patientworthy.com)
  • Paraneoplastic syndromes, such as LEMS, are a group of rare conditions which are all sparked by the body having an immune response to a type of tumor. (patientworthy.com)
  • In conclusion, researchers emphasize how important it is for dermatologists to be aware that paraneoplastic syndromes like LEMS can be associated with MCC. (patientworthy.com)
  • INTRODUCTION: The Lambert Eaton myasthenic syndrome (LEMS) is a paraneoplastic disorder associated with raised serum voltage-gated calcium channel (VGCC) antibodies in patients with small cell lung cancer (SCLC). (ox.ac.uk)
  • The main paraneoplastic syndromes associated with autonomic dysfunction include paraneoplastic autoimmune autonomic gangliopathy (AAG), paraneoplastic sensory neuropathies and neuronopathies, paraneoplastic encephalomyeloneuropathies, and Lambert-Eaton myasthenic syndrome (LEMS). (medscape.com)
  • Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease that reduces reliability, leading to muscle weakness. (psc.edu)
  • Paraneoplastic cerebellar degeneration may occur in association with Lambert-Eaton myasthenic syndrome (LEMS), but to our knowledge, the co-occurrence of paraneoplastic opsoclonus-myoclonus syndrome and LEMS has not been previously reported. (researchgate.net)
  • Autoimmune neuromuscular disorders - particularly the evaluation and management of patients with myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and chronic inflammatory polyneuropathy (CIDP). (upenn.edu)
  • RUZURGI is a potassium channel blocker indicated for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) in patients 6 to less than 17 years of age. (nih.gov)
  • Catalyst's flagship U.S. commercial product is FIRDAPSE ® (amifampridine) Tablets 10 mg, approved for the treatment of Lambert-Eaton myasthenic syndrome ("LEMS") for adults and for children ages six to seventeen. (globenewswire.com)
  • We used our control MCell model (validated by its ability to predict physiology) as a starting point for modeling the current treatments for the neuromuscular disease Lambert-Eaton Myasthenic Syndrome (LEMS). (aps.org)
  • In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle - the neuromuscular junction - and interferes with the ability of nerve cells to send signals to muscle cells.Specifically, the attack targets the calcium channels on nerve endings that are required to trigger the release of acetylcholine, a chemical messenger that triggers muscle contraction. (mda.org)
  • Lambert-Eaton myasthenic syndrome (LEMS) is a rare condition that affects the signals sent from the nerves to the muscles. (api.nhs.uk)
  • LEMS is also known as myasthenic syndrome or Eaton-Lambert syndrome. (api.nhs.uk)
  • In November 2018, The Food and Drug Administration approved Firdapse (amifampridine) tablets for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) in adults. (advancemarketanalytics.com)
  • The "gun" in the image above is a money-or-your-life situation for patients with Lambert-Eaton Myasthenic Syndrome (LEMS), who may require permanent hospitalization or suffocate and die without this drug called Firdapse. (emptywheel.net)
  • Lambert-Eaton Myasthenic Syndrome Lambert-Eaton Myasthenic syndrome (LEMs) is a rare autoimmune disease. (patientworthy.com)
  • Botulism is frequently misdiagnosed, most often as a polyradiculoneuropathy (Guillain-Barré or Miller-Fisher syndrome), myasthenia gravis, or other diseases of the central nervous system. (cdc.gov)
  • More than a decade ago myasthenic symptoms were observed in rabbits immunized with acetylcholine receptor (AChR) [119] and AChR deficiency was found at the neuromuscular junction in human myasthenia gravis (MG) [36]. (nih.gov)
  • Clinical trials of new medications for myasthenia gravis and Lambert-Eaton myasthenic syndrome, as well as a large multi-center patient oriented outcome study of newly-diagnosed patients with myasthenia. (upenn.edu)
  • We report the rapid development of a myasthenic crisis as the first-time manifestation of myasthenia gravis. (cdc.gov)
  • We report a case of leptospirosis leading to a myasthenic crisis and subsequent diagnosis of a rare form of myasthenia gravis (MG) in a previously healthy traveler returning to Austria from Southeast Asia. (cdc.gov)
  • His work has implications for several neurological disorders including myasthenia and Lambert-Eaton myasthenic syndrome, in addition to explaining the effects of botulinum (and other) toxins on the nervous system. (acnr.co.uk)
  • There is also an autoimmune form of the syndrome and this sometimes affects children. (tg.org.au)
  • Lambert-Eaton myasthenic syndrome is a rare autoimmune condition that causes miscommunication between your nerves and muscles. (healthline.com)
  • Autoimmune paraneoplastic autonomic neuropathy is a rare paraneoplastic neurological syndrome (PNS), which manifests as disturbance in sympathetic and/or parasympathetic nervous system function. (medscape.com)
  • Autoimmune neuropathies encompass acute forms such as Guillain-Barre syndrome (GBS) and its variants, as well as chronic forms including chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy, and polyneuropathies associated with immunoglobulin M (IgM) monoclonal gammopathy and paraneoplastic neuropathies. (nursingcenter.com)
  • Recognition of the autoimmune origin of acquired MG also implied that myasthenic disorders occurring in a genetic or congenital setting had a different cause. (nih.gov)
  • Finally, an acquired disorder of neuromuscular transmission different from MG, the Lambert-Eaton myasthenic syndrome, has also been shown to have an autoimmune basis. (nih.gov)
  • As a result, a number of congenital myasthenic syndromes have come to be recognized and investigated. (nih.gov)
  • Amifampridine has been used, through the Special Access Scheme, to manage the symptoms of Lambert-Eaton myasthenic syndrome. (tg.org.au)
  • Although the effect size is uncertain, amifampridine is recommended as the first-line drug treatment for managing the symptoms of Lambert-Eaton myasthenic syndrome. (tg.org.au)
  • Paraneoplastic syndromes are groups of certain signs and symptoms that develop in some people with cancer. (healthline.com)
  • The term paraneoplastic syndrome has been used since the 1940s to describe groups of signs and symptoms that develop in some people with cancer. (healthline.com)
  • What are the symptoms of paraneoplastic syndromes with SCLC? (healthline.com)
  • Symptoms vary depending on which syndrome you have. (healthline.com)
  • Symptoms of paraneoplastic syndromes can precede (come before) symptoms of cancer. (healthline.com)
  • The patient displayed typical myasthenic symptoms, including bilateral ptosis, Cogan's lid twitch signs, bilateral weakness of ocular movements, and dysarthria. (cdc.gov)
  • Symptoms worsened with prolonged talking, including dysphagia and myasthenic weakness of all limbs, such that the patient was dependent on a wheelchair and unable to raise his arms. (cdc.gov)
  • Other systemic symptoms may include mydriasis, dry mouth, constipation, urinary retention, and tachycardia due to unopposed sympathetic nervous system activity (anticholinergic syndrome). (msdmanuals.com)
  • [ 1 ] These criteria are based on the presence or absence of cancer, the presence of well-characterized paraneoplastic (onconeural) antibodies, and the type of clinical syndrome. (medscape.com)
  • The clinical syndromes are divided into classical and non-classical categories. (medscape.com)
  • Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. (medscape.com)
  • Functional dyspepsia and gastroparesis in tertiary care are interchangeable syndromes with common clinical and pathologic features. (legehandboka.no)
  • In this independent clinical study, we analyzed retrospectively the clinical features of 9 cases (6 male and 3 female) of Lambert-Eaton myasthenic syndrome that were administered 3,4-diaminopyridine (3,4-DAP). (go.jp)
  • It kicked off with clinical sessions relating to leading treatments of acute neurological disorders: starting with a comprehensive talk on the clinical manifestations and treatment of Guillain-Barré Syndrome presented by Dr Howard. (acnr.co.uk)
  • Lambert-Eaton myasthenic syndrome can develop in some patients with cancer, particularly small cell lung cancer. (tg.org.au)
  • Prospective study into the incidence of Lambert Eaton myasthenic syndrome in small cell lung cancer. (ox.ac.uk)
  • SCLC is the type of cancer most associated with the development of paraneoplastic syndromes. (healthline.com)
  • Researchers estimate that about 10% of people with SCLC develop a paraneoplastic syndrome. (healthline.com)
  • In this article, we take a deeper look at paraneoplastic syndromes and how they relate to SCLC. (healthline.com)
  • About 10% of people with SCLC develop these syndromes. (healthline.com)
  • The most common endocrine paraneoplastic syndromes in people with SCLC are SIADH and Ectopic Cushing syndrome. (healthline.com)
  • An estimated 3-5% of people with SCLC also have neurologic syndromes. (healthline.com)
  • The most diagnosed type in people with SCLC is Lambert-Eaton myasthenic syndrome. (healthline.com)
  • Other forms of chronically acquired inflammatory neuropathies include Lewis Sumner syndrome, a pure sensory disorder, and distal demyelinating neuropathy ( Table 1 ). (nursingcenter.com)
  • Paraneoplastic syndromes tend to develop in middle-aged or older adults. (healthline.com)
  • According to the National Center for Biotechnology Information (NCBI), the Journal of Neuromuscular Dysfunction in 2015 reported, incidence rates for frequent neuromuscular disorders was between 1 and 10 per 100,000 people, except multifocal motor neuropathy, Lambert-eaton myasthenic syndrome, and Emery-dreifuss dystrophy neuromuscular dysfunction. (medgadget.com)
  • Cochrane Abstracts , Evidence Central , evidence.unboundmedicine.com/evidence/view/Cochrane/440030/all/Treatment_for_Lambert‐Eaton_myasthenic_syndrome. (unboundmedicine.com)
  • Meisel A, Sieb JP, Le Masson G, Postila V, Sacconi S. The European Lambert-Eaton Myasthenic Syndrome Registry: Long-term outcomes following symptomatic treatment . (neurologyadvisor.com)
  • Junker J, Haverkamp W, Schulze-Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. (medscape.com)
  • These syndromes can form when your immune system attacks healthy neurological cells. (healthline.com)
  • An international expert group established diagnostic criteria in 2004 that divided patients with a suspected paraneoplastic neurological syndrome into "definite" and "probable" categories. (medscape.com)
  • A nonclassical neurological syndrome, no paraneoplastic antibodies, and cancer that presents within 2 years of the neurological syndrome. (medscape.com)
  • Opsoclonus-myoclonus syndrome is a combination of involuntary, arrhythmic, conjugate saccadic eye movements with myoclonus. (bmj.com)
  • Ectopic Cushing syndrome occurs in 1-5% of cases. (healthline.com)
  • Cushing syndrome from secretion of adrenocorticotropic hormone. (cancer.gov)
  • This is a multicenter, open-label, Phase 1/2a dose escalation and expansion study of orally administered emavusertib (CA-4948) monotherapy in adult patients with Acute Myelogenous Leukemia (AML) or high risk Myelodysplastic Syndrome (MDS). (rochester.edu)
  • When these cells become cancerous, they can overproduce hormones or other biologically active substances that lead to the development of endocrine paraneoplastic syndromes. (healthline.com)
  • Dalmau J, Rosenfeld MR. Paraneoplastic syndromes affecting peripheral nerve and muscle. (legehandboka.no)
  • Lambert-Eaton myasthenic syndrome is very rare so trials of drug therapy are small. (tg.org.au)
  • According to a story from abc13.com, Makenna Brown, a four-year-old girl from Texas, has been plagued by relentless itching thanks to her Alagille syndrome, a rare genetic disorder. (patientworthy.com)
  • The isolate obtained from the patient in this study with severe myasthenic manifestation of leptospirosis. (cdc.gov)
  • Diseases associated with this gene include Lambert-Eaton Myasthenic Syndrome. (antibodiesinc.com)
  • They documented the case of a 59 year old patient who was diagnosed with two different kinds of paraneoplastic syndromes which are both linked to MCC. (patientworthy.com)
  • Many paraneoplastic syndromes are triggered by an abnormal immune response where antibodies or a type of white blood cell called T cells attack and damage healthy cells. (healthline.com)
  • In this syndrome, active zone particles of the presynaptic membrane are direct or indirect targets of the pathogenic autoantibodies. (nih.gov)
  • Some paraneoplastic syndromes develop when your immune system overreacts to a tumor and mounts a strong attack against it. (healthline.com)
  • The development of these syndromes are not due to direct tumor invasion. (medscape.com)
  • Other paraneoplastic syndromes are caused by cancer cells releasing hormones or other substances. (healthline.com)
  • The syndrome is characterized by the degeneration of a part of your brain called the cerebellum . (healthline.com)
  • These syndromes are estimated to develop in 1-7.4% of people with cancer. (healthline.com)
  • it is therefore regarded as a paraneoplastic syndrome (a condition that arises as a result of cancer elsewhere in the body). (wikipedia.org)
  • Pellizzón OA, Kalaizich L, Ptácek LJ, Tristani-Firouzi M, Gonzalez MD. Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. (medscape.com)