Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission resulting from defects of the presynaptic, synaptic, or postsynaptic neuromuscular junction. Clinical manifestations commonly include fatigable weakness, ptosis, ophthalmoplegia, feeding difficulties, respiratory insufficiency, delayed motor milestones, and fluctuating weakness that worsens with exertion.

This panel includes genes associated with the major forms of congenital myasthenic syndrome, including presynaptic, synaptic basal lamina, postsynaptic acetylcholine receptor, glycosylation-related, and neuromuscular junction development disorders. Representative genes include CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, RAPSN, MUSK, GFPT1, DPAGT1, and SLC5A7.

This panel is recommended for patients with suspected congenital myasthenic syndrome or neuromuscular junction dysfunction, particularly when fatigable weakness is the predominant clinical feature and a hereditary disorder is suspected.