Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Common Name(s)

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site of the transmission defect: presynaptic, synaptic, or postsynaptic. Presynaptic CMS with episodic ataxia ({254210}) is caused by mutation in the CHAT gene ({118490}), and synaptic acetylcholinesterase (AChE) deficiency ({603034}) is caused by mutation in the COLQ gene ({603033}). Postsynaptic disorders can be divided into 2 kinetic defects, fast-channel ({608930}) and slow-channel ({601462}) CMS, and a third disorder, AChR deficiency. Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency ({8:Engel et al., 2003}). See also CMS caused by mutation in the SCN4A sodium channel gene ({603967}); familial limb-girdle myasthenic syndrome ({254300}), caused by mutation in the DOK7 ({610285}) or agrin (AGRN; {103320}) genes; and limb-girdle myasthenia with tubular aggregates ({610542}), caused by mutation in the GFPT1 gene ({138292}) on chromosome 2p13. See also NOMENCLATURE below.
 

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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