Term Name: | torsion dystonia 1 |
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Synonyms: | |
Definition: | A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0060730] ( DOID:0060730 ) |