dystonia 6, torsion

(redirected from DYT6)

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.
References in periodicals archive ?
To evaluate these patients, he referred to Levodopa trial in DYT1 and DYT6.
La distonia DYT6 se caracteriza por presentar mutaciones en este gen y se presenta como una distonia craneofacial, distonia cervical o distonia del brazo.
Some of the patients have mutations in specific genes including DYT1 and DYT6.
Sequence variants in the THAP1 gene have been found to be associated with DYT6 dystonia.