Dystonia 9
Dystonia 9
Definition
A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
Also known as dystonia 9, dystonia type 9, DYT9, episodic choreoathetosis/spasticity — per MONDO