dystonia 9
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.
MONDO:0016058
paroxysmal dystonia
is_a
MONDO:0017706
disorder of carbohydrate transmembrane transport and absorption
is_a
DYT9
exact
dystonia 9
exact
dystonia type 9
exact
episodic choreoathetosis/spasticity
exact