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Neurology · Neurology / Neuromuscular

Congenital myasthenic syndrome

also: CMS

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Inherited NMJ disorders.

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
Alternative names & eponyms: CMS

Etiology & mechanism

Mutations in NMJ proteins.

Gene(s) involved (26)

Symptoms & signs (6)

In plain terms, someone with Congenital myasthenic syndrome may experience the following — click any to explore related syndromes:

episodic respiratory crises fatigable weakness feeding difficulty hypotonia ophthalmoparesis ptosis

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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Shares symptoms with

Congenital myasthenic syndrome, acetylcholine receptor deficiency

fatigable weakness, ophthalmoparesis, ptosis

Coffin–Siris syndrome

feeding difficulty, hypotonia

Miller–Dieker syndrome

feeding difficulty, hypotonia

Allan–Herndon–Dudley syndrome

Benign hereditary chorea

Blepharophimosis–ptosis–epicanthus inversus syndrome

Brain–lung–thyroid syndrome

Cerebral folate deficiency syndrome

Shares genes with

Congenital myasthenic syndrome, acetylcholine receptor deficiency

AGRN, ALG14, ALG2, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PREPL, RAPSN, SLC25A1

Congenital myasthenic syndrome, slow-channel type

CHRNA1, CHRNB1, CHRND, CHRNE

Nephrotic syndrome

Pierson syndrome

Van Buchem syndrome

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