Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy

Authors

  • Jerry R. Mendell MD,

    Corresponding author
    • Nationwide Children's Hospital, Paul D. Wellstone Muscular Dystrophy Cooperative Research Center and the Department of Pediatrics, Ohio State University, Columbus, Ohio, USA
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  • Michele Lloyd-Puryear MD, PhD

    1. Office of Disease Prevention, National Institutes of Health, Bethesda, Maryland, USA
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  • The authors have no conflicts of interest to disclose.

Correspondence to: J.R. Mendell; e-mail: jerry.mendell@nationwidechildrens.org

Abstract

This report summarizes the progress made in newborn screening for Duchenne muscular dystrophy (DMD). This subject was discussed fully at a symposium held on September 11–12, 2012, in Bethesda, Maryland, by a group of experts from multiple disciplines. The meeting was triggered by the simultaneous combination of improvements in methods for newborn screening for DMD and greater potential for treatment. On the screening side, a two-tier system of newborn screening was introduced that enabled creatine kinase levels and DMD gene analysis to be done on the same dried blood spots obtained at birth. Treatment improvements included promising results from exon skipping as well as multiple studies showing long-term benefits of glucocorticoids and data indicating that early intervention of both forms of therapy was the most beneficial. Conclusions from this symposium with supportive data could have a significant impact on propelling efforts for approval of newborn screening for DMD. Muscle Nerve, 2013

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