myotonic dystrophy type 1 SNOMEDCT_US_2018_03_01:77956009 UMLS_CUI:C0027126 DOID:11722 GARD:8310 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. OMIM mapping confirmed by DO. [SN]. MESH:D009223 myotonic dystrophy of Steinert congenital myotonic dystrophy NCI:C84914 Steinert disease disease_ontology ICD10CM:G71.11 ICD9CM:359.21 OMIM:160900 Dystrophia myotonica myotonic disease