Advances in molecular genetic studies of primary dystonia

Abstract

Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1), whispering dysphonia (DYT4), dopa⁃responsive dystonia (DYT5), mixed-type dystonia (DYT6), paroxysmal kinesigenic dyskinesia (DYT10), myoclonus⁃dystonia syndrome (DYT11), rapid-onset dystonia parkinsonism (DYT12), adult-onset cervical dystonia (DYT23), craniocervical dystonia (DYT24) and primary torsion dystonia (DYT25).