Abstract: Dystonia is one kind of dyskinesia characterizedabnormal movement and/or posture causedpersistent or intermittent muscle contraction. It also has distinguished features of repeatability and modeling, and can be induced or aggravatedrandom movements. Dystonia causedhereditary factors is named as primary dystonia. Currently, 28 phenotypes have already been found in primary dystonia. Development of genetic technology has largely promoted the discovery of genetic mechanisms. Even so, many patients still have different genetic and clinical features these phenotypes. Diagnosis of primary dystonia is quite challenging. Clinical manifestations, imaging examinations, electromyography, gene testing and other examinations should be taken into acfor systematic diagnosis. This article reviews the genetic progress and diagnostic strategies of primary dystonia, aimed at providing help for further clinical practice and scientific research.

Key words: primary dystonia, genetics, diagnosis