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Dystrophinopathies

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Neuromuscular Disorders in Clinical Practice

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Abstract

The dystrophinopathies include a spectrum of muscle diseases ranging from asymptomatic increase in creatine kinase, muscle cramps, or cardiomyopathy to Becker and Duchenne muscular dystrophies. All phenotypes are caused by mutations in dystrophin gene (DMD) at Xp21 which encodes dystrophin. This chapter discusses the dystrophinopathies including their genetics and pathogenesis, management, and available and emerging treatments. Although there is no curative treatment for DMD, there are many areas of therapeutic intervention under investigation including repair of the DMD gene defect through viral-mediated gene replacement, exon skipping, and mutation suppression.

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  1. Department of Pediatrics and Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital and The Ohio State University, 700 Children’s Drive, WA3024, Columbus, OH, 43205, USA

    Zarife Sahenk MD, PhD & Louise R. Rodino-Klapac PhD

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Correspondence to Zarife Sahenk MD, PhD .

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  1. School of Medicine Department of Neurology, University Hospitals Case Medical Center Case Western Reserve University, Cleveland, Ohio, USA

    Bashar Katirji

  2. Department of Neurology, George Washington University, Washington, District of Columbia, USA

    Henry J. Kaminski

  3. University School of Medicine Department of Neurology, Louis Stokes Cleveland VA Medical Center Case Western Reserve, Cleveland, Ohio, USA

    Robert L. Ruff

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Sahenk, Z., Rodino-Klapac, L.R. (2014). Dystrophinopathies. In: Katirji, B., Kaminski, H., Ruff, R. (eds) Neuromuscular Disorders in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6567-6_56

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