myotonic dystrophy type 2

Term ID

DOID:0050759

Synonyms

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. (2)

References

• GARD:9728
• ICD10CM:G71.1
• ICD9CM:359.2
• MESH:D020967
• MIM:602668
• NCI:C84913
• ORDO:606
• SNOMEDCT_US_2023_03_01:155096007
• UMLS_CUI:C0553604

Ontology

Human Disease   ( DOID:0050759 )