Canadian Medical Guide > Diseases > Nervous System Diseases > Neuromuscular Diseases > Neuromuscular Junction Diseases > Myasthenic Syndromes, Congenital Terms and Definitions

Myasthenic Syndromes, Congenital

Medical 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)
Guide 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)

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