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).
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