面肩肱型肌营养不良症的分子机制和治疗方法研究进展  

The research progress related to molecular mechanism and therapy of facioscapulohumeral muscular dystrophy

作　　者：石姗平 习阳 SHI Shanping;XI Yang(Institute of Biochemistry and Molecular Biology,School of Medicine,Ningbo University,Ningbo 315211,China)

机构地区：[1]宁波大学医学院生物化学与分子生物学研究所,宁波315211

出　　处：《生命的化学》2020年第2期277-283,共7页Chemistry of Life

基　　金：宁波市自然科学基金项目(2019A610325);浙江省自然科学基金项目(LY17C060002)。

摘　　要：面肩肱型肌营养不良症(facioscapulohumeral muscular dystrophy, FSHD)是世界范围内位列第三的肌营养不良症,呈常染色体显性遗传。FSHD以肌肉坏死为特征,在疾病表现、进展和发病年龄方面具有显著的家族内和家庭间变异性。在不同的年龄段,FSHD的症状表现程度各不相同,通常在青少年时期发病,20岁前的外显率达95%。本文综述了FSHD的发病机制、诊断和治疗的现状,并重点阐述了与治疗相关的研究进展,为今后该疾病的机制研究和临床治疗提供了参考。Facioscapulohumeral muscular dystrophy(FSHD) is the third most prevalent muscular dystrophy in the world and is autosomal dominant disease. It is characterized by muscle necrosis, and has significant intra familial variability in disease manifestations, progression and age of onset. The symptoms of FSHD vary in different age groups and usually occur in adolescents, with an explicit rate of 95% before the age of 20. This paper discussed the current status of the molecular mechanism, diagnosis, and treatment of FSHD, we focused on the research progress related to therapy in order to provide a valuable clue for the future clinical therapy of FSHD.

关 键 词：面肩肱型肌营养不良症 遗传病 分子机制 治疗 

分 类 号：R746.2[医药卫生—神经病学与精神病学]