Myasthenic Syndrome, Congenital, 12

Alternative Names

  • CMS12
  • Myasthenic Syndrome, Congenital, with Tubular Aggregates 1
  • CMSTA1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610542.1Saudi ArabiaFemale Developmental regression; Retinal degene...NM_001244710.2:c.1588C>THomozygousAutosomal, RecessiveMonies et al. 2019
610542.2.GSaudi ArabiaUnknownYes Muscle weaknessNM_001244710.2:c.686-1G>AHomozygousAutosomal, RecessiveMonies et al. 2019 Three siblings, all ...
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