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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Chrzanowski SM, McAnally MM, Kang PB. An Opportune Time for Newborn Screening in Duchenne Muscular Dystrophy. JAMA Neurol. 2021;78(8):901–902. doi:10.1001/jamaneurol.2021.1782
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