肢带型肌营养不良症  

Update of Limb-girdle Muscular Dystrophies

作　　者：赵重波[1,2] 卢家红[1,2] 吕传真 

机构地区：[1]复旦大学附属华山医院神经内科,200040 [2]复旦大学上海医学院神经病学系,200032

出　　处：《中国临床神经科学》2005年第2期198-201,225,共5页Chinese Journal of Clinical Neurosciences

摘　　要：肢带型肌营养不良症是临床上以肩胛带和骨盆带肌不同程度无力或萎缩为主要特点的一组异质性疾病,其遗传方式、发病年龄以及临床表现等不同于几种传统已知的肌营养不良症,是一类复杂的遗传性肌病。目前根据遗传方式分为1型(常染色体显性)和2型(常染色体隐性) ,每一型根据不同基因缺陷又分为许多亚型。近几年的基因研究加深了对本类疾病的认识并增加了新的亚型,本文对各亚型的分子基础和临床特点进行总结。The limb-girdle muscular dystrophies are a diverse group of muscle-wasting disorders characteristically affecting the large muscles of the pelvic and shoulder girdles. The inheritance pattern, onset age and clinical manifestations are different from some other classical known muscular dystrophies. The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive. Each type is composed of many specific subtypes which are induced by special gene defect. Recent genetic investigations have promoted more understanding and raised new subtypes.

关 键 词：肢带型肌营养不良症 常染色体隐性 常染色体显性 遗传方式 异质性疾病 遗传性肌病 不同程度 临床表现 发病年龄 基因缺陷 基因研究 临床特点 分子基础 肩胛带 亚型 

分 类 号：R738.7[医药卫生—肿瘤] R692.11[医药卫生—临床医学]