原发性肌张力障碍的遗传学进展和诊断策略  

Progress of genetics and diagnosis of primary dystonia

作　　者：邬静莹 刘晓黎 曹立[1] WU Jing-ying;LIU Xiao-li;CAO Li(Department of Neurology,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Neurology,Shanghai Fengxian District Central Hospital,Shanghai 201400,China)

机构地区：[1]上海交通大学医学院附属瑞金医院神经内科,上海200025 [2]上海市奉贤区中心医院神经内科,上海201400

出　　处：《上海交通大学学报（医学版）》2020年第3期373-379,共7页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(81870889,81571086);上海市教育委员会高峰高原学科建设计划(20161401);上海交通大学多学科交叉项目培育(医工)(YG2016MS64)。

摘　　要：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 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.

关 键 词：原发性肌张力障碍 遗传学 诊断 

分 类 号：R741[医药卫生—神经病学与精神病学]