Term Name: dystonia 9
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.
Ontology: Human Disease [DOID:0090044]   ( DOID:0090044 )

Relationships
is a type of: autosomal dominant disease dystonia glucose transporter type 1 deficiency syndrome