myotonic dystrophy type 1

Term ID

DOID:11722

Synonyms

• congenital myotonic dystrophy
• Dystrophia myotonica
• myotonic dystrophy of Steinert
• Steinert 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. (5)

References

• GARD:8310
• ICD10CM:G71.11
• ICD9CM:359.21
• MESH:D009223
• MIM:160900
• NCI:C84914
• SNOMEDCT_US_2023_03_01:1177122009
• UMLS_CUI:C0027126

Ontology

Human Disease   ( DOID:11722 )