Conditions / Genetic
dystonia 9
info · Genetic
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
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.
Signs and symptoms
- Paresthesia
- Diplopia
- Choreoathetosis
- Dystonia
- Episodic ataxia
- Migraine
- Dysarthria
- Abnormal pyramidal tract morphology
- Dyskinesia
- Cognitive impairment
Also known as: paroxysmal choreoathetosis with spasticity