Myasthenic Syndrome, Congenital, 7, Presynaptic (CMS7)

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Disease Ontology 12 DOID:0110659 OMIM® 57 616040 OMIM Phenotypic Series 57 PS601462 MeSH 44 D020294

MedGen 41 C4015038 CN219804 SNOMED-CT via HPO 68 103276001 122481008 15188001 205091006 22325002 248268002 249939004 249942005 263681008 343087000 349006 37280007 405946002 74035001 95828007 more UMLS 71 C4015038

UniProtKB/Swiss-Prot : ⁷³ 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 neuromuscular junction disease. An important gene associated with Myasthenic Syndrome, Congenital, 7, Presynaptic is SYT2 (Synaptotagmin 2), and among its related pathways/superpathways is Protein-protein interactions at synapses. Affiliated tissues include skeletal muscle, and related phenotypes are hearing impairment and skeletal muscle atrophy

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) (Updated 05-Mar-2021)

Clinical features from OMIM®:

616040 (Updated 05-Mar-2021)

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