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Inherited Neuromuscular Disorders: Presentation, Diagnosis, and Advances in Treatment

  • Neurology (D Stephenson, Section Editor)
  • Published:
Current Pediatrics Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

This article reviews presentation of inherited neuromuscular disorders, including how to differentiate them from other causes of hypotonia and gross motor delay. Focus is on disorders that have, or may soon have, therapies to improve strength or slow down disease progression.

Recent Findings

With the recent explosion in genetic testing, the number of genes known to cause inherited neuromuscular disorders has increased exponentially in the last 10 years. Understanding the genetic basis has led to the potential for new therapeutics, aimed both at correcting the genetic deficiency and improving downstream factors to help improve overall function and health.

Summary

As new treatments for inherited neuromuscular disorders become available, the importance of early diagnosis will be more important than ever for some of these previously lethal disorders.

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Authors and Affiliations

  1. Department of Neurology, Children’s Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA

    Elizabeth A. Kichula

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  1. Elizabeth A. Kichula
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Correspondence to Elizabeth A. Kichula.

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Conflict of Interest

Elizabeth A Kichula has received institutional support for study participation from Ionis Pharmaceuticals outside of the submitted work and is on the advisory board of AveXis.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Neurology

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Kichula, E.A. Inherited Neuromuscular Disorders: Presentation, Diagnosis, and Advances in Treatment. Curr Pediatr Rep 5, 36–44 (2017). https://doi.org/10.1007/s40124-017-0118-7

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  • DOI: https://doi.org/10.1007/s40124-017-0118-7

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