Term Name: | dystonia 9 |
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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 ) |