dystonia 6, torsion
dystonia 6, torsion
A primary torsion dystonia (OMIM:602629), which is characterised by onset in early adulthood, cranial or cervical involvement in about half of cases, and frequent progression to multiple body regions.Molecular pathology
Defects of THAP1, which encodes a proapototic protein, cause torsion dystonia type 6.