Neuromuscular diseases represent an heterogenous group of more than 400 diseases, with a very broad phenotypic spectrum. Given their rarity and complexity, neuromuscular diseases are often diagnosed with a very significant delay after which irreversible muscle damage may limit the efficacy of treatments when available. In this context, neonatal screening could constitute a solution for early detection and treatment. A systematic review of the literature in PubMed up to May 1, 2021, was conducted according to PRISMA guidelines, including classical neuromuscular diseases and diseases with a clear peripheral nervous system involvement (including central nervous system disease with severe neuropathy). We found seven diseases for which newborn screening data were reported: spinal muscular atrophy (9), Duchenne muscular dystrophy (9), Pompe disease (8), X-linked adrenoleukodystrophy (5), Krabbe disease (4), myotonic dystrophy type 1 (1), metachromatic leukodystrophy (1). The future of newborn screening for neuromuscular disorders pass through a global technological switch, from a biochemical to a genetic-based approach. The rapid development of therapy also requires the possibility to quickly adapt the list of treated conditions, to allow innovative therapies to achieve their best efficacy.

神经肌肉疾病代表了 400 多种疾病的异质组，具有非常广泛的表型谱。鉴于它们的稀有性和复杂性，神经肌肉疾病的诊断通常会出现非常显着的延迟，之后不可逆转的肌肉损伤可能会限制可用的治疗效果。在这种情况下，新生儿筛查可以构成早期发现和治疗的解决方案。根据 PRISMA 指南对 PubMed 中截至 2021 年 5 月 1 日的文献进行了系统回顾，包括典型的神经肌肉疾病和明显受累周围神经系统的疾病（包括伴有严重神经病变的中枢神经系统疾病）。我们发现报告了新生儿筛查数据的七种疾病：脊髓性肌萎缩症 (9)、杜氏肌营养不良症 (9)、庞贝病 (8)、X 连锁肾上腺脑白质营养不良 (5)、Krabbe 病 (4)、1 型强直性营养不良 (1)、异染性脑白质营养不良 (1)。新生儿神经肌肉疾病筛查的未来将经历一个全球性的技术转变，从生化方法到基于基因的方法。治疗的快速发展还需要能够快速调整治疗条件列表，以使创新疗法达到最佳疗效。