Congenital myasthenic syndrome

Also known as: CMS

Inherited NMJ disorders.

Medical specialty: Neurology
Subspecialty: Neurology / Neuromuscular
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy and childhood
Gene(s) involved: AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SLC25A1, SLC5A7, SNAP25, SYT2, VAMP1

Etiology & mechanism

Mutations in NMJ proteins.

Gene(s) involved (26)

AGRNALG14ALG2CHATCHRNA1CHRNB1CHRNDCHRNECOL13A1COLQDOK7DPAGT1GFPT1GMPPBLAMB2LRP4MUSKMYO9APLECPREPLRAPSNSLC25A1SLC5A7SNAP25SYT2VAMP1

Symptoms & signs (6)

episodic respiratory crisesfatigable weaknessfeeding difficultyhypotoniaophthalmoparesisptosis

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