Congenital muscular dystrophies (CMDs) are a group of inherited conditions defined by muscle weakness occurring before the acquisition of ambulation, delayed motor milestones, and characterised by muscle dystrophic pathology. A large number of genes - at least 35- are responsible for CMD phenotypes, and it is therefore not surprising that CMDs comprise a wide spectrum of phenotypes, with variable involvement of cardiac/respiratory muscles, central nervous system, and ocular structures. The identification of several new genes over the past few years has further expanded both the clinical and the molecular spectrum underlying CMDs. Comprehensive gene panels allow to arrive at a final diagnosis in around 60% of cases, suggesting that both new genes, and unusual mutations of the currently known genes are likely to account for the remaining cases. The aim of this review is to present the most recent advances in this field. We will outline recent natural history studies that provide additional information on disease progression, discuss recently discovered genes and the current status of the most promising therapeutic options.

先天性肌营养不良症 (CMD) 是一组遗传性疾病，其定义为在获得行走之前发生的肌肉无力、运动里程碑延迟，并以肌营养不良病理学为特征。大量基因 - 至少 35 个 - 负责 CMD 表型，因此 CMD 包含广泛的表型，心脏/呼吸肌、中枢神经系统和眼部结构的参与程度不一也就不足为奇了。在过去几年中，对几个新基因的鉴定进一步扩展了 CMD 的临床和分子谱。综合基因组可以对大约 60% 的病例做出最终诊断，这表明新基因和当前已知基因的异常突变都可能导致剩余病例。本综述的目的是介绍该领域的最新进展。我们将概述最近的自然史研究，这些研究提供有关疾病进展的更多信息，讨论最近发现的基因以及最有希望的治疗选择的现状。