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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2016
Symbol CMS18
Location 20p12.2
Name myasthenic syndrome, congenital, 18
Corresponding gene SNAP25
Main clinical features
  • presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia
  • at birth stiffness, respiratory insufficiency, and multiple joint contractures; decreased fetal movements had been noted during pregnancy
  • muscle biopsy showed no morphologic abnormalities, and acetylcholine receptor (AChR) density and acetylcholinesterase (AChE) levels were normal
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease