dystonia 9

Term ID

DOID:0090044

Synonyms

• paroxysmal choreoathetosis with spasticity

Definition

A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (3)

References

• ICD10CM:G24.8
• MIM:601042
• ORDO:53583
• UMLS_CUI:C1832855

Ontology

Human Disease   ( DOID:0090044 )