myoclonic dystonia 11

Term ID

DOID:0090034

Synonyms

Definition

A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (2)

References

• ICD10CM:G24.1
• OMIM:159900
• ORDO:36899

Ontology

Human Disease   ( DOID:0090034 )