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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。
Limb muscular dystrophy is clinically a group of heterogeneous diseases mainly characterized by varying degrees of weakness or atrophy of the shoulder girdle and pelvic muscular muscular degeneration, and its genetic mode, age of onset and clinical manifestations are different from several traditional known Muscular dystrophy, is a complex class of inherited myopathies. At present, according to the genetic mode is divided into type 1 (autosomal dominant) and type 2 (autosomal recessive), each type according to different genetic defects is divided into many subtypes. In recent years, genetic studies have deepened the understanding of this disease and added new subtypes. This article summarizes the molecular basis and clinical features of each subtype.