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Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy
Author(s) -
Mendell Jerry R.,
LloydPuryear Michele
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23810
Subject(s) - duchenne muscular dystrophy , newborn screening , medicine , muscular dystrophy , muscle disease , neuromuscular disease , exon skipping , physical therapy , mdx mouse , pediatrics , disease , bioinformatics , dystrophin , exon , genetics , gene , biology , alternative splicing
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