Neurology · Neurology / Neuromuscular; Neurogenetics
Congenital myasthenic syndrome, slow-channel type
also: Slow-channel syndrome
Autosomal dominant congenital myasthenic syndrome with prolonged acetylcholine receptor channel opening.
- 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
- Alternative names & eponyms
- Slow-channel syndrome
- Note
- Subtype of #211
Etiology & mechanism
Gain-of-function variants in AChR subunits cause endplate myopathy and desensitization.
Gene(s) involved (4)
Symptoms & signs (5)
In plain terms, someone with Congenital myasthenic syndrome, slow-channel type may experience the following — click any to explore related syndromes:
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
1 shared
Blepharophimosis–ptosis–epicanthus inversus syndrome
ptosis
1 shared
Char syndrome
ptosis
1 shared
Congenital myasthenic syndrome
ptosis
1 shared
Congenital myasthenic syndrome, acetylcholine receptor deficiency
ptosis
1 shared
Horner syndrome
ptosis
1 shared
Lymphedema–distichiasis syndrome
ptosis
1 shared
Miller Fisher syndrome
ptosis
1 shared
Noonan syndrome
ptosis
1 shared
Orbital apex syndrome
ptosis
1 shared
Raeder syndrome
ptosis
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