torsion dystonia 1

Term ID

DOID:0060730

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. (2)

References

• ICD10CM:G24.1
• OMIM:128100
• ORDO:256

Ontology

Human Disease   ( DOID:0060730 )