Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Common Name(s)

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG ({100730}) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by {7:Engel et al., 2015}). For a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" for support, advocacy or research.

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Scientific Literature

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