肌张力障碍的遗传学研究进展

Research advances on the genetics of dystonia

肌张力障碍是一种以持续或间歇性的肌肉收缩导致不自主地异常运动或姿势的运动障碍病,按照病因学可分为遗传性、获得性和特发性。而遗传性肌张力障碍被列入我国第一批121种罕见病目录中。遗传性病因复杂,尤其是近几年发现了大量肌张力障碍相关的新基因,包括HPCA、KCTD17、COL6A3、KMT2B、VPS16、VPS41、VPS11、AOPEP、EIF2AK2、ADCY5、GNAO1、GNB1、TBCD、CACNA1B、DNAJC12、SLC18A2、SQSTM1、IRF2BPL、YY1等基因,临床表型和基因型的关系复杂,临床认知不足,本文拟对此进行综述,以提高临床医师的临床诊疗能力。

Dystonia is a movement disorder characterized by continuous or intermittent muscle contraction leading to involuntary abnormal movements or postures.The etiology of dystonia can be hereditary,acquired,or idiopathic.Hereditary dystonia has been listed in the first catalog of 121 rare diseases in China.The genetic causes of dystonia are complex,with numerous new genes related to dystonia discovered in recent years,which include HPCA,KCTD17,COL6A3,KMT2B,VPS16,VPS41,VPS11,AOPEP,EIF2AK2,ADCY5,GNAO1,GNB1,TBCD,CACNA1B,DNAJC12,SLC18A2,SQSTM1,IRF2BPL,and YY1.The relationship between clinical phenotypes and genotypes in dystonia is complex and insufficiently understood.This article reviews the genetics of dystonia,aiming to improve clinicians ability to diagnose and treat this disease.