Pediatric Neuromuscular Diseases

Geetanjali Rathore, Peter B. Kang

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


The diagnostic and referral workflow for children with neuromuscular disorders is evolving, particularly as newborn screening programs are expanding in tandem with novel therapeutic developments. However, for the children who present with symptoms and signs of potential neuromuscular disorders, anatomic localization, guided initially by careful history and physical examination, continues to be the cardinal initial step in the diagnostic evaluation. It is important to consider whether the localization is more likely to be in the lower motor neuron, peripheral nerve, neuromuscular junction, or muscle. After that, disease etiologies can be divided broadly into inherited versus acquired categories. Considerations of localization and etiologies will help generate a differential diagnosis, which in turn will guide diagnostic testing. Once a diagnosis is made, it is important to be aware of current treatment options, as a number of new therapies for some of these disorders have been approved in recent years. Families are also increasingly interested in clinical research, which may include natural history studies and interventional clinical trials. Such research has proliferated for rare neuromuscular diseases, leading to exciting advances in diagnostic and therapeutic technologies, promising dramatic changes in the landscape of these disorders in the years to come.

Original languageEnglish (US)
Pages (from-to)1-14
Number of pages14
JournalPediatric Neurology
StatePublished - Dec 2023

Bibliographical note

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© 2023 Elsevier Inc.


  • Charcot-Marie-Tooth disease
  • Congenital myasthenic syndrome
  • Congenital myopathy
  • Juvenile myasthenia gravis
  • Muscular dystrophy
  • Neuromuscular
  • Spinal muscular atrophy


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