News Brief
US Department of Health and Human Services (HHS) Secretary Robert F. Kennedy, Jr. approved the addition of Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP) following scientific review and public comment.
Early detection of both conditions allows children to receive FDA-approved therapies at the most effective time, helping to slow disease progression and preserve their quality of life, according to HHS.
DMD is a progressive, genetic (X-linked recessive) neuromuscular disorder caused by mutations to the DMD gene, resulting in the dysfunction or absence of the dystrophin protein, according to the Muscular Dystrophy Association (MDA). The condition occurs in approximately 1 in 3,500 to 5,000 male births.
“Adding Duchenne to the RUSP greatly accelerates the timeframe in which newborns across the country will be screened, allowing families to connect with care and neuromuscular experts sooner and access approved therapies and supportive interventions earlier,” the Parent Project Muscular Dystrophy and Muscular Dystrophy Association said in a statement. “By reducing the diagnostic delays that have affected Duchenne families for generations, early identification will lead to improved long-term health outcomes.”
