Myasthenic Syndrome, Congenital, 7, Presynaptic

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OMIM 57 616040 Disease Ontology 12 DOID:0110659 MedGen 42 C4015038 CN219804

MeSH 44 D020294 SNOMED-CT via HPO 69 263681008 103276001 15188001 343087000 95828007 405946002 349006 37280007 22325002 205091006 122481008 249942005 74035001 249939004 more UMLS 73 C4015038

UniProtKB/Swiss-Prot : ⁷⁵ Myasthenic syndrome, congenital, 7, presynaptic: 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. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes.

MalaCards based summary : Myasthenic Syndrome, Congenital, 7, Presynaptic, also known as myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, is related to opsoclonus-myoclonus syndrome and sympathetic ophthalmia. An important gene associated with Myasthenic Syndrome, Congenital, 7, Presynaptic is SYT2 (Synaptotagmin 2), and among its related pathways/superpathways are NF-kappaB Signaling and T cell receptor signaling pathway. Affiliated tissues include skeletal muscle, and related phenotypes are hearing impairment and hyporeflexia

Disease Ontology : ¹² A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has material basis in heterozygous mutation in the SYT2 gene on chromosome 1q32.

OMIM : ⁵⁷ Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS7 is an autosomal dominant CMS resulting from a presynaptic defect; patients have onset of symptoms in early childhood (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616040)

Clinical features from OMIM:

616040

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