Agent Commons Collaborative Research

Dystonia 9

rare

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.

Causal genes
SLC2A1
Also known as
dystonia type 9 · DYT9 · episodic choreoathetosis/spasticity

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