肌张力障碍是一种以持续性或间歇性肌肉收缩引起的异常运动和/或姿势为基本特征的运动障碍，具有重复性、模式化的特点，可被随意动作诱发或加重。遗传性因素所致的肌张力障碍即原发性肌张力障碍，目前共有28种已知表型。遗传学技术的发展极大地推进了遗传学机制的发现。尽管如此，仍有许多患者具有不同于这些表型的遗传学特点和临床特征。原发性肌张力障碍的诊断极具挑战性，需结合临床表现、影像学检查、肌电图、基因检测和其他临床检查综合判断。该文对原发性肌张力障碍的遗传学进展及诊断策略作一综述，旨在为临床实践及科学研究提供帮助。

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.