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Congenital myasthenic syndromes (CMS) are a group of inherited disorders of neuromuscular transmission most commonly presenting with early onset fatigable weakness, ptosis, and ophthalmoparesis. CMS are classified according to the localization of the causative molecular defect. CMS with presynaptic dysfunction can be caused by mutations in several different genes, including those involved in acetylcholine synthesis, its packaging into synaptic vesicles, vesicle docking, and release from the presynaptic nerve terminal and neuromuscular junction development and maintenance. Electrodiagnostic testing is key in distinguishing CMS from other neuromuscular disorders with similar clinical features as well as for revealing features pointing to a specific molecular diagnosis. A decremental response on low-frequency repetitive nerve stimulation (RNS) is present in most presynaptic CMS. In CMS with deficits in acetylcholine resynthesis however, a decrement may only appear after conditioning with exercise or high-frequency RNS and characteristically displays a slow recovery. Facilitation occurs in CMS caused by mutations in  VAMP1, UNC13A, SYT2, AGRN, LAMA5 . By contrast, facilitation is absent in the other presynaptic CMS described to date. An understanding of the underlying molecular mechanisms therefore assists the interpretation of electrodiagnostic findings in patients with suspected CMS.

frontiers in neurology

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms