摘要
肌阵挛-肌张力障碍综合征(myoclonus-dystonia syndrome,MDS)是肌张力障碍综合征中的一种特殊类型,是一种以肌阵挛和肌张力障碍为临床特征的常染色体显性遗传运动障碍综合征,可伴有一定的精神症状,通常在儿童时期起病,肌阵挛和肌张力障碍多累及上肢、躯干和颈部。MDS的主要致病基因是ε-sarcoglycan基因(SGCE),目前该基因的致病机制尚不清楚。MDS持续进展可致残,给患者及其家属带来极大痛苦。近年来,关于本病的研究有了很大的进展,文中将从发病机制、临床表型、遗传学、诊断标准、鉴别诊断和治疗等方面进行系统综述。
Myoclonus-dystonia syndrome(MDS)is a special type of dystonia-plus syndromes.It is an autosomal-dominant movement disorder syndrome characterized by myoclonus and dystonia and accompanied by certain mental symptoms.The disorder usually occurs in childhood.Myoclonus and dystonia are usually involved in upper limbs,trunk and neck.The main pathogenic gene of MDS isε-sarcoglycan gene(SGCE).Up to date,the mechanism that how this gene leads to the disease is not clear.The continuous progress of MDS can cause disability and bring great pain to patients and their families.In recent years,significant progress has been made in the research of this disease.This article will systematically review the pathogenesis,clinical phenotype,genetics,diagnostic criteria,differential diagnosis and treatment of MDS.
作者
李阳红
唐北沙
郭纪锋
Li Yanghong;Tang Beisha;Guo Jifeng(Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Geriatric Neurology,Xiangya Hospital,Central South University,Changsha 410008,China;National Clinical Research Center for Geriatric Diseases(Xiangya),Changsha 410008,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2020年第7期552-558,共7页
Chinese Journal of Neurology
基金
国家自然科学基金资助项目(81430023,81873785)
国家重点研发计划项目(2017YFC0909101)。
