The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive. The increase in the characterization of new genotypes in the family of LGMDs further adds to the heterogeneity of the disease. Meanwhile, better understanding of the phenotype led to the reconsideration of the disease definition, which resulted in eight old subtypes to be no longer recognized officially as LGMD and five new diseases to be added to the LGMD family. The unique variabilities of LGMD stem from genetic mutations, which then lead to protein and ultimately muscle dysfunction. Herein, we review the LGMD pathway, starting with the genetic mutations that encode proteins involved in muscle maintenance and repair, and including the genotype–phenotype relationship of the disease, the epidemiology, disease progression, burden of illness, and emerging treatments.

肢带型肌营养不良症 (LGMD) 是一组遗传疾病，它们在骨盆和肩部区域无力和消瘦的表型表达中结合在一起。已鉴定出 30 多种亚型，其中 5 种显性亚型和 26 种隐性亚型。LGMDs 家族中新基因型特征的增加进一步增加了疾病的异质性。同时，对表型的更好理解导致重新考虑疾病定义，导致 8 个旧亚型不再被官方认可为 LGMD，5 个新疾病被添加到 LGMD 家族中。LGMD的独特变异源于基因突变，然后导致蛋白质并最终导致肌肉功能障碍。在此，我们回顾了 LGMD 通路，