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

• Published in: Muscle & nerve 2013-07, Vol.48 (1), p.21-26
• Main Authors: Mendell, Jerry R., Lloyd-Puryear, Michele
• Format: Article
• Language: English
• Subjects: Committee on Heritable Disorders for Newborns and Children; Department of Health and Human Services; Duchenne muscular dystrophy; Genetic Testing - methods; Genetic Testing - trends; Humans; Infant, Newborn; Kinases; Maryland; Medical screening; Muscular dystrophy; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - therapy; Neonatal Screening - methods; Neonatal Screening - trends; Newborn Screening; Recommended Uniform Screening Panel; Research Report - trends; Secretary's Advisory
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.23810

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