GNAO1基因相关肌张力障碍

GNAO1 gene-related 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的异常运动和(或)姿势的运动障碍病。近年来,肌张力障碍疾病在遗传学方面取得了飞速发展,常见肌张力障碍的基因及相关表型已被大家所熟知。然而,GNAO1作为与肌张力障碍密切相关的基因之一,尚未被大部分临床医师所了解。文中对GNAO1基因相关肌张力障碍的分子遗传学特征、临床特点及治疗策略进行综述,旨在增加临床医师对GNAO1基因相关肌张力障碍疾病的认识,避免在临床诊疗中出现漏诊和误诊。

Dystonia is a movement disorder characterized by involuntary abnormal movements or postures due to sustained or intermittent muscle contractions.In recent years,rapid progress has been achieved in the genetics of this disease,leading to an in-depth understanding of common genes and phenotypes related to dystonia.GNAO1 is one of the genes closely associated with dystonia.GNAO1 gene,nevertheless,remains largely unknown to most clinicians.This article reviews the molecular genetic features,clinical characteristics,and therapeutic strategies of GNAO1 gene-associated dystonia,thereby increasing the knowledge of clinicians about GNAO1 gene-associated dystonia and preventing underdiagnosis and misdiagnosis in clinical practice.