Myasthenic Syndromes, Congenital
| Definition: |
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) |
| Notes: |
do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers |
| Also Called: |
Congenital Myasthenic Syndromes, Postsynaptic,Congenital Myasthenic Syndromes, Presynaptic,Myasthenic Syndromes, Congenital, Slow Channel |
| Previously Indexed: |
Myasthenia Gravis/congenital (1970-1999) |
Myasthenic Syndromes, Congenital Definitions and Terms
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