Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency

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OMIM 57 616326 Disease Ontology 12 DOID:0110675 MedGen 42 C4225367 C1837094

MeSH 44 D020294 SNOMED-CT via HPO 69 258211005 27272007 11934000 205294008 276369006 409623005 111246005 77016009 248268002 298294005 85905009 78164000 more UMLS 73 C1837094

UniProtKB/Swiss-Prot : ⁷⁵ Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.

MalaCards based summary : Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency, also known as cms11, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency. An important gene associated with Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency is RAPSN (Receptor Associated Protein Of The Synapse). Related phenotypes are high palate and long face

OMIM : ⁵⁷ 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). (616326)

Disease Ontology : ¹² A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has material basis in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.

Clinical features from OMIM:

616326

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