DISEASES

Disease-gene associations mined from literature

Human genes for torsion dystonia 1

Torsion dystonia 1 [DOID:0060730]

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.

Synonyms:  torsion dystonia 1,  DOID:0060730,  dystonia musculorum deformans,  dystonia musculorum deformanses