原发性肌张力障碍(primary torsion dystonia,PTD)是一种主动肌与拮抗肌收缩不协调或过度收缩引起的以异常姿势和动作为特征的锥体外系疾病。多数常散发,少数有家族史,其病因可能与遗传、环境等因素有关。随着分子遗传学的发展,遗传因素在PTD发病机制中的作用愈来愈受到重视。已确定的遗传特征有常染色体显性遗传(DYT1/TOR1A; Primary torsion dystonia (PTD) is an extrapyramidal disease characterized by abnormal posture and motility caused by uncoordinated or over contracted antagonist muscle. Most often distributed, a small number of family history, the etiology may be related to genetic, environmental and other factors. With the development of molecular genetics, the role of genetic factors in the pathogenesis of PTD is getting more and more attention. The identified genetic characteristics are autosomal dominant (DYT1 / TOR1A;