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Duchenne Muscular Dystrophy pp 3–17Cite as

An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 1687))

Abstract

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. Mutations of the DMD gene destabilize the dystrophin associated glycoprotein complex in the sarcolemma. Ongoing mechanical stress leads to unregulated influx of calcium ions into the sarcoplasm, with activation of proteases, release of proinflammatory cytokines, and mitochondrial dysfunction. Cumulative damage and reparative failure leads to progressive muscle necrosis, fibrosis, and fatty replacement. Although there is presently no cure for DMD, scientific advances have led to many potential disease-modifying treatments, including dystrophin replacement therapies, upregulation of compensatory proteins, anti-inflammatory agents, and other cellular targets. Recently approved therapies include ataluren for stop codon read-through and eteplirsen for exon 51 skipping of eligible individuals. The purpose of this chapter is to summarize the clinical features of DMD, to describe current outcome measures used in clinical studies, and to highlight new emerging therapies for affected individuals.

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Authors and Affiliations

  1. Department of Paediatrics and Clinical Neurosciences, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, Alberta, Canada, T3B 6A8

    Jean K. Mah M.

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  1. Jean K. Mah M.
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Correspondence to Jean K. Mah M. .

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Editors and Affiliations

  1. Istituto di Anatomia Umana e Biologia Cellulare, Università Cattolica del Sacro Cuore, Roma, Italy

    Camilla Bernardini

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Mah, J.K. (2018). An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy. In: Bernardini, C. (eds) Duchenne Muscular Dystrophy. Methods in Molecular Biology, vol 1687. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7374-3_1

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  • DOI: https://doi.org/10.1007/978-1-4939-7374-3_1

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7373-6

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