Guidelines for genetic testing of muscle and neuromuscular junction disorders

Stefan Nicolau, Margherita Milone, Teerin Liewluck

Research output: Contribution to journalArticlepeer-review


Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing, including myotonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, mitochondrial myopathies, dystrophinopathies, and oculopharyngodistal myopathy. Initial investigation in the remaining patients is generally a comprehensive gene panel by next-generation sequencing. Broad panels have a higher diagnostic yield and can be cost-effective. Due to extensive phenotypic overlap and treatment implications, genes responsible for congenital myasthenic syndromes should be included when evaluating myopathy patients. For patients whose initial genetic testing is negative or inconclusive, phenotypic re-evaluation is warranted, along with consideration of genes and variants not included initially, as well as their acquired mimickers.

Original languageEnglish (US)
Pages (from-to)255-269
Number of pages15
JournalMuscle and Nerve
Issue number3
StatePublished - Sep 2021


  • congenital myasthenic syndrome
  • genetic testing
  • guideline
  • inherited myopathy
  • muscular dystrophy
  • myotonic dystrophy
  • next-generation sequencing

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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