Neuromuscular Junction Diseases
| Definition: |
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. |
| Also Called: |
Neuromuscular Junction Toxic Disorders |
| Previously Indexed: |
Neuromuscular Junction (1966-1999) |
Neuromuscular Junction Diseases Categories.
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Myasthenic Syndromes, Congenital - 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) |
Neuromuscular Junction Diseases Definitions and Terms
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