肢带型肌营养不良症临床特点及诊断与治疗进展

摘要

肢带型肌营养不良症是一组基因突变导致的以近端肌无力为主要表现的遗传性肌病.尽管其临床表现具有共性特征,但不同亚型之间仍存在差异,且遗传缺陷具有异质性,故应结合临床表现、影像学、肌肉病理学和基因检测等综合判断.目前主要采取综合治疗方法.近年来,国内外对此类疾病的诊断与治疗取得新的进展.本文拟就肢带型肌营养不良症各亚型临床特点以及诊断与治疗进展进行概述.%Limb-girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations,with proximal muscle weakness as their main manifestation.Although various subtypes of LGMD share the common feature,heterogenity exist both in clinical phenotype and genetic defects.The diagnosis should be based on the combination of the clinical symptoms,muscle imaging findings,myo-pathological changes and genetic testing.Multi-discipline management is currently for patients.There has been progress in the diagnosis and treatment of LGMD worldwide in recent years.This review will summarize the advances in the LGMD diagnosis,treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD.