Newborn screening of neuromuscular diseases

Neuromuscul Disord. 2021 Oct;31(10):1070-1080. doi: 10.1016/j.nmd.2021.07.008. Epub 2021 Jul 28.


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.

Keywords: Duchenne muscular dystrophy; Neuromuscular disorder; Newborn screening; Pompe disease; Spinal muscular atrophy.

Publication types

  • Review

MeSH terms

  • Glycogen Storage Disease Type II / diagnosis
  • Humans
  • Infant, Newborn
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Dystrophy, Duchenne / diagnosis
  • Myotonic Dystrophy / diagnosis
  • Neonatal Screening*
  • Neuromuscular Diseases / diagnosis*