常染色体显性遗传性肢带型肌营养不良症研究进展

Review on Autosomal Dominant Form Limb-girdle Muscular Dystrophy(LGMD1)

肢带型肌营养不良症(LGMD)患病率仅为1/20 000,其中大部分为隐性遗传性肢带型肌营养不良症(LGMD2型),而显性遗传性肢带型肌营养不良症(LGMD 1型)则更为罕见,仅占LGMD的10%。近年来,随着影像学和基因检测技术的发展,对LGMD 1型的报道逐步增多和深入。为加强对LGMD 1型的认识,回顾了近15年来对LGMD 1型的文献报道,对其临床表现、病理特点、基因类型及研究进展进行综述。

The limb-girdle muscular dystrophy（LGMD）, with a low prevalence of approximately 1 in 20 000, includes two forms. The recessively inherited forms（LGMD2s） are the majority, while the dominantly inherited forms（LGMD1s） are the minority which represent less than 10% of all LGMDs. In recent years, with the technological development of neuro-image and genetic tests, reports of LGMD1 s began to increase. The clinical manifestation, histopathology, genetic characteristics and updates of LGMD1 within 15 years were reviewed, which aimed at enhancing the awareness of LGMD1.