Congenital myasthenic syndrome, slow-channel type

Also known as: Slow-channel syndrome

Autosomal dominant congenital myasthenic syndrome with prolonged acetylcholine receptor channel opening.

Medical specialty: Neurology
Subspecialty: Neurology / Neuromuscular; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, childhood onset
Gene(s) involved: CHRNA1, CHRNB1, CHRND, CHRNE

Etiology & mechanism

Gain-of-function variants in AChR subunits cause endplate myopathy and desensitization.

Gene(s) involved (4)

CHRNA1CHRNB1CHRNDCHRNE

Symptoms & signs (5)

finger extensor weaknessptosisrepetitive cmap after single stimulusscapular weaknessweakness of cervical muscles

Note

Subtype of #211

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