myotonic dystrophy type 1 MESH:C535686 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]. Dystrophia myotonica MESH:D009223 NCI:C84914 disease_ontology ICD10CM:G71.11 ICD9CM:359.21 OMIM:160900 SNOMEDCT_US_2020_03_01:77956009 Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert myotonic disease