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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 11

Congenital myasthenic syndrome 11

Synonyms
MYASTHENIC SYNDROME, CONGENITAL, Ie; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency

Summary

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. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS11, CMS4C, FADS, FADS2, RAPSYN, RNF205, RAPSN
    Summary: receptor associated protein of the synapse

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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