Disease

Congenital myasthenic syndrome-61, 2

Gene

CHAT

Inheritance AR
Current Treatments Acetylcholine-esterase inhibitors
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test repetitive nerve stimulation test3
Disease Frequency (per 100,000) 0.924
Genes Included in Disease Frequency AGRN, ALG14, SYT2, PREPL, GFPT1, SLC5A7, CHRNA1, CHRND, COLQ, DOK7, ALG2, MUSK, CHAT, SLC18A3, COL13A1, LRP4, RAPSN, DPAGT1, VAMP1, MYO9A, CHRNE, CHRNB1, SCN4A, SNAP25, SLC25A14
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Congenital+Myasthenia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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