Approximately 360 babies with Duchenne are born each year in the United States, and evidence of muscle damage is present in infancy. Without newborn screening, families typically notice symptoms of Duchenne in their child by age 2, but most of those families will not receive a diagnosis until age 5.  This delay is even longer in families who are marginalized by race or income inequality. By age 5, children with Duchenne have significant and irreversible muscle damage.

There are now eight FDA-approved treatments for Duchenne, four of which are approved for use in infancy. Newborn screening can eliminate the delay in diagnosis and provide families the opportunity for treatment years earlier, when children have more functional muscle tissue remaining.

PPMD’s mission and work extends to all of the dystrophinopathies, including those diagnosed with Duchenne, Becker, and carriers. On our website, we sometimes use the term Duchenne to refer to any condition caused by variants in the DMD gene. However, the information in this answer is specific to Duchenne. Newborn screening for dystrophinopathy typically focuses on trying to identify babies with Duchenne alone, because it is the most severe condition in the dystrophinopathy spectrum with the earliest onset. However, it is possible for newborn screening techniques to identify someone with Becker or who is a dystrophinopathy carrier.

The first-tier screen for Duchenne evaluates CK-MM, the muscle isoform (muscle version) of a marker called creatine kinase. CK-MM is a biomarker of muscle damage and is highly elevated in newborns and children with Duchenne. If a baby’s CK-MM is high and stays high, confirmatory testing—DNA sequencing of the dystrophin gene, DMD—is required. The presence of a pathogenic (disease-causing) variant in DMD confirms the diagnosis. In some states, both the screening and confirmatory test can be performed on the standard NBS dried blood spots, with no additional blood draw required. Sometimes, confirmatory genetic testing requires a new blood draw or saliva sample.

The Recommended Uniform Screening Panel (RUSP) is the federal recommendation for which conditions all babies in the United States should be screened for at birth. Duchenne was under consideration for addition to the RUSP and was scheduled to be voted on when the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was dissolved in April 2025, preventing the vote. PPMD is actively working to advocate for the completion of Duchenne’s review.

Following the dissolution of the ACHDNC, states cannot wait for a federal recommendation through the RUSP to add necessary conditions. Even when the ACHDNC was active, the RUSP could not keep pace with the influx of new treatments for pediatric conditions that made them eligible for newborn screening. Historically, it took 4 years for conditions to be added to the RUSP on average, and only a few conditions could be considered at a time.   Even with RUSP recommendation, it typically takes several years for a state to add a new condition to their program and begin screening. It is vital that states consider the addition of Duchenne now, before more of our children’s time and muscle is lost.

An expert group of Duchenne clinicians developed and published clinical guidelines for care following a newborn screening diagnosis. After newborn screening, families consult with pediatric neuromuscular care teams to discuss the most appropriate treatment course for each child. They have the potential to initiate therapies such as exon skipping, gene therapy, and steroids years earlier than they would if diagnosed through traditional pathways. They may be able to enroll in clinical trials.

Establishing care in infancy also enables referrals to early intervention services such as speech, behavioral, physical, and occupational therapy. Newborn screening diagnosis has benefits for the family, including identifying at-risk family members, like carrier mothers who are at risk for cardiomyopathy and siblings who may be carriers or affected. Many families also report using this information in future family planning.