Congenital myasthenic syndrome, acetylcholine receptor deficiency

Also known as: AChR-deficiency CMS

Congenital myasthenic syndrome with reduced receptor.

Medical specialty: Neurology
Subspecialty: Neurology / Neuromuscular
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy or early childhood
Gene(s) involved: AGRN, ALG14, ALG2, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PREPL, RAPSN, SCN4A, SLC25A1

Etiology & mechanism

CHRNE mutations most often.

Gene(s) involved (18)

AGRNALG14ALG2CHRNA1CHRNB1CHRNDCHRNECOLQDOK7DPAGT1GFPT1LAMB2LRP4MUSKPREPLRAPSNSCN4ASLC25A1

Symptoms & signs (3)

fatigable weaknessophthalmoparesisptosis

Note

Overlaps #211

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.