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 ).
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