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June 21, 2021

An Opportune Time for Newborn Screening in Duchenne Muscular Dystrophy

Author Affiliations
  • 1Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts
  • 2Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis
  • 3Department of Neurology, University of Minnesota Medical School, Minneapolis
JAMA Neurol. 2021;78(8):901-902. doi:10.1001/jamaneurol.2021.1782

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy; despite improved screening diagnostic techniques and novel US Food and Drug Administration (FDA)–approved treatment options, DMD is not screened for at birth beyond investigational studies. Recently, 4 molecular therapies for DMD have been approved by the FDA. The pivotal studies for these treatments were conducted in boys aged 6 to 15 years; however, laboratory and noninvasive techniques suggest evidence of subclinical disease in boys younger than 6 years.1-4 Currently, the mean age at diagnosis of DMD is 4.4 years. Intuitively, presymptomatic treatment may yield improved outcomes, but this remains an unresolved issue warranting further investigation.

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