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Neurology · Neurology / Neuromuscular

Congenital myasthenic syndrome, acetylcholine receptor deficiency

also: AChR-deficiency CMS

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Congenital myasthenic syndrome with reduced receptor.

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
Alternative names & eponyms: AChR-deficiency CMS
Note: Overlaps #211

Etiology & mechanism

CHRNE mutations most often.

Gene(s) involved (18)

AGRN ALG14 ALG2 CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 GFPT1 LAMB2 LRP4 MUSK PREPL RAPSN SCN4A SLC25A1

Symptoms & signs (3)

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

fatigable weakness 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.

Drag nodes, scroll to zoom, click a node to open that syndrome.

Shares symptoms with

Congenital myasthenic syndrome

fatigable weakness, ophthalmoparesis, ptosis

Blepharophimosis–ptosis–epicanthus inversus syndrome

Congenital myasthenic syndrome, slow-channel type

Horner syndrome

Lymphedema–distichiasis syndrome

Miller Fisher syndrome

Noonan syndrome

Orbital apex syndrome

Raeder syndrome

Shares genes with

Congenital myasthenic syndrome

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

Episodic weakness syndrome

Nephrotic syndrome

Pierson syndrome

Van Buchem syndrome

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