dystonia 3, torsion

dystonia 3, torsion

A primary torsion dystonia (OMIM:314250), 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 TAF1, which encodes a proapototic protein, cause torsion dystonia type 3.