Progress of genetics and diagnosis of primary dystonia / 上海交通大学学报（医学版）

ABSTRACT

Dystonia is one kind of dyskinesia characterized by abnormal movement and/or posture caused by persistent or intermittent muscle contraction. It also has distinguished features of repeatability and modeling, and can be induced or aggravated by random movements. Dystonia caused by hereditary 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 from these phenotypes. Diagnosis of primary dystonia is quite challenging. Clinical manifestations, imaging examinations, electromyography, gene testing and other examinations should be taken into account for 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.