Abstract
Congenital myasthenic syndromes (CMSs) are inherited disorders of neuromuscular transmission associated with abnormal weakness and fatigability on exertion. In each CMS, the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. This chapter provides an overview of the anatomic and physiologic aspects of neuromuscular transmission. The recognized CMSs stem from defects in presynaptic, synaptic basal lamina, and postsynaptic molecules. Generic diagnosis of a CMS is based on myasthenic symptoms since birth or early childhood. The types of presynaptic CMS are (1) CMS caused by defects in choline acetyltransferase (ChAT) associated with episodic apnea; (2) a CMS with paucity of synaptic vesicles and reduced quantal release; (3) a CMS resembling the Lambert–Eaton syndrome; and (4) a CMS with reduced quantal release due to an undefined mechanism. The synaptic basal lamina harbors several molecules that regulate the development and function of the neuromuscular junction. Defects in any of these proteins could instigate a CMS, but defects only in the collagenic structural component of acetylcholinesterase (AChE) cause a CMS. Most postsynaptic CMSs are caused by defects in AChR.
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