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| Term | myotonic dystrophy type 1 | ID (Ontology) | DOID:11722 (Human Disease) | |||||||||||||||||||||||||||
| Definition | 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. | |||||||||||||||||||||||||||||
| Also Known As | "congenital myotonic dystrophy" ; "Dystrophia myotonica" ; "myotonic dystrophy of Steinert" (for all, see Synonyms field below) | |||||||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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muscular dystrophy |__myotonic disease |__myotonic dystrophy type 1 42 rec. |
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| Is a | myotonic disease | ||
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External Crossreferences & Linkouts
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GARD:8310 ICD10CM:G71.11 ICD9CM:359.21 MESH:D009223 MIM:160900 NCI:C84914 SNOMEDCT_US_2023_03_01:1177122009 UMLS_CUI:C0027126 |
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