The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

Mol Diagn Ther. 2020 Dec;24(6):641-652. doi: 10.1007/s40291-020-00495-2. Epub 2020 Sep 30.


The impact of high-throughput sequencing in genetic neuromuscular disorders cannot be overstated. The ability to rapidly and affordably sequence multiple genes simultaneously has enabled a second golden age of Mendelian disease gene discovery, with flow-on impacts for rapid genetic diagnosis, evidence-based treatment, tailored therapy development, carrier-screening, and prevention of disease recurrence in families. However, there are likely many more neuromuscular disease genes and mechanisms to be discovered. Many patients and families remain without a molecular diagnosis following targeted panel sequencing, clinical exome sequencing, or even genome sequencing. Here we review how massively parallel, or next-generation, sequencing has changed the field of genetic neuromuscular disorders, and anticipate future benefits of recent technological innovations such as RNA-seq implementation and detection of tandem repeat expansions from short-read sequencing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Consanguinity
  • Genetic Association Studies
  • Genetic Counseling
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / prevention & control*
  • Genetic Diseases, Inborn / therapy
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Neuromuscular Diseases / diagnosis
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / prevention & control*
  • Neuromuscular Diseases / therapy