Biomaterial Database

Immunology of disorders of neuromuscular transmission. 2006

A Vincent

Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK. Angela.vincent@imm.ox.ac.uk

The neuromuscular junction (NMJ) is a prototype synapse and myasthenia gravis is the prototypic antibody-mediated disorder. There are now three other disorders of neuromuscular transmission caused by antibodies to other essential components of the NMJ. Antibodies to the muscle-specific kinase, MuSK, are defining a new form of myasthenia that can be associated with muscle atrophy. Antibodies to voltage-gated calcium channels are responsible for muscle weakness and autonomic dysfunction in the Lambert Eaton myasthenic syndrome. Antibodies to voltage-gated potassium channels are found in patients with a range of disorders affecting the NMJ, the autonomic system or the central nervous system. The pathogenic mechanisms probably depend on the IgG subclass of the antibodies and are only partly shared between the diseases.

UI	MeSH Term	Description	Entries
D009157	Myasthenia Gravis	A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition.	Anti-MuSK Myasthenia Gravis,MuSK MG,MuSK Myasthenia Gravis,Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle-Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Generalized,Myasthenia Gravis, Ocular,Anti MuSK Myasthenia Gravis,Generalized Myasthenia Gravis,Muscle Specific Receptor Tyrosine Kinase Myasthenia Gravis,Muscle Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis,Myasthenia Gravis, Anti-MuSK,Myasthenia Gravis, MuSK,Ocular Myasthenia Gravis
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011248	Pregnancy Complications	Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.	Adverse Birth Outcomes,Complications, Pregnancy,Adverse Birth Outcome,Birth Outcome, Adverse,Complication, Pregnancy,Outcome, Adverse Birth,Pregnancy Complication
D011950	Receptors, Cholinergic	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.	ACh Receptor,Acetylcholine Receptor,Acetylcholine Receptors,Cholinergic Receptor,Cholinergic Receptors,Cholinoceptive Sites,Cholinoceptor,Cholinoceptors,Receptors, Acetylcholine,ACh Receptors,Receptors, ACh,Receptor, ACh,Receptor, Acetylcholine,Receptor, Cholinergic,Sites, Cholinoceptive
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001323	Autoantibodies	Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.	Autoantibody
D015220	Calcium Channels	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.	Ion Channels, Calcium,Receptors, Calcium Channel Blocker,Voltage-Dependent Calcium Channel,Calcium Channel,Calcium Channel Antagonist Receptor,Calcium Channel Antagonist Receptors,Calcium Channel Blocker Receptor,Calcium Channel Blocker Receptors,Ion Channel, Calcium,Receptors, Calcium Channel Antagonist,VDCC,Voltage-Dependent Calcium Channels,Calcium Channel, Voltage-Dependent,Calcium Channels, Voltage-Dependent,Calcium Ion Channel,Calcium Ion Channels,Channel, Voltage-Dependent Calcium,Channels, Voltage-Dependent Calcium,Voltage Dependent Calcium Channel,Voltage Dependent Calcium Channels
D015624	Lambert-Eaton Myasthenic Syndrome	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)	Eaton-Lambert Syndrome,Myasthenic Syndrome, Lambert-Eaton,Eaton-Lambert Myasthenic Syndrome,Lambert-Eaton Syndrome,Myasthenic-Myopathic Syndrome of Eaton-Lambert,Myasthenic-Myopathic Syndrome of Lambert-Eaton,Myopathic-Myasthenic Syndrome of Eaton-Lambert,Myopathic-Myasthenic Syndrome of Lambert-Eaton,Eaton Lambert Myasthenic Syndrome,Eaton Lambert Syndrome,Eaton-Lambert Myasthenic-Myopathic Syndrome,Eaton-Lambert Myopathic-Myasthenic Syndrome,Eaton-Lambert Myopathic-Myasthenic Syndromes,Lambert Eaton Myasthenic Syndrome,Lambert Eaton Syndrome,Lambert-Eaton Myasthenic-Myopathic Syndrome,Lambert-Eaton Myasthenic-Myopathic Syndromes,Lambert-Eaton Myopathic-Myasthenic Syndrome,Lambert-Eaton Myopathic-Myasthenic Syndromes,Myasthenic Myopathic Syndrome of Eaton Lambert,Myasthenic Myopathic Syndrome of Lambert Eaton,Myasthenic Syndrome, Eaton-Lambert,Myasthenic Syndrome, Lambert Eaton,Myopathic Myasthenic Syndrome of Eaton Lambert,Syndrome, Eaton-Lambert,Syndrome, Eaton-Lambert Myasthenic,Syndrome, Lambert-Eaton,Syndrome, Lambert-Eaton Myasthenic
D020386	Isaacs Syndrome	A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)	Myokymia, Continuous,Neuromyotonia,Pseudomyotonia,Acquired Neuromyotonia,Continuous Muscle Activity Syndrome,Gamstorp-Wohlfart Syndrome,Isaacs' Syndrome,Isaacs-Mertens Syndrome,Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis,Pseudomyotonia Syndrome of Isaacs,Quantal Squander,Syndrome of Continuous Muscle Activity,Continuous Myokymia,Continuous Myokymias,Gamstorp Wohlfart Syndrome,Isaac Syndrome,Isaacs Mertens Syndrome,Isaacs Pseudomyotonia Syndrome,Myokymias, Continuous,Neuromyotonia, Acquired