myotonic dystrophy type 2 (DOID:0050759)
Alliance: disease page
Alt IDs: OMIM:602668, ICD10CM:G71.1, ICD9CM:359.2, MESH:D020967, NCI:C84913, ORDO:606, UMLS_CUI:C0553604
Definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.