Newborn Screening for Duchenne: Clinical and Policy Implications

In December 2025, the US Department of Health and Human Services approved the addition of Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP), marking a major milestone for newborn screening in rare neurologic and neuromuscular diseases. The decision followed years of scientific review, public comment, and advocacy, and underscores the growing recognition that early diagnosis can meaningfully alter disease trajectories through earlier intervention and care planning.

For the Muscular Dystrophy Association (MDA), the inclusion of DMD on the RUSP represents decades of sustained effort to shorten diagnostic delays and improve outcomes for affected children. In commentary provided to NeurologyLive®, Paul Melmeyer, PhD, executive vice president of public policy and advocacy at MDA, outlined the clinical and policy implications of this decision, including how earlier detection may influence treatment strategies, counseling approaches, and long-term care coordination.

NeurologyLive: How significant is it that Duchenne muscular dystrophy (DMD) is officially on the Recommended Uniform Screening Panel (RUSP)?

Paul Melmeyer, PhD: The addition of DMD to the Recommended Uniform Screening Panel (RUSP) is a major milestone for the Duchenne community and the broader neuromuscular field.

• National policy impact: This federal endorsement by HHS elevates DMD to a recommended condition for universal newborn screening across all states, signaling that early detection of DMD is now recognized as a public health priority.
• Federal funding and support: RUSP conditions are eligible for Federal financial and logistical assistance, making it easier for states to screen for Duchenne
• Swifter state uptake of DMD on panels: Each state decides which conditions for which to screen on their newborn screening panels. DMD's inclusion on the RUSP will activate 14 states' laws that require the states to add the condition to their panels following HHS's addition to the RUSP.
• Decades-long advocacy success: MDA co-sponsored the nomination process with Parent Project Muscular Dystrophy, reflecting years of research, pilot programs, and community engagement to demonstrate the benefits of early detection.
• Eliminating diagnostic delay: Historically, most children with DMD weren’t diagnosed until ages 4–5—long after significant muscle degeneration has occurred. RUSP inclusion means these children could be identified at birth, dramatically reducing the diagnostic odyssey that families face. Nationwide adoption of RUSP-approved conditions usually takes 5-10 years following addition to the RUSP.
• Signal to the neuromuscular field: Beyond Duchenne, this achievement reinforces the importance of expanding newborn screening for neuromuscular diseases, setting a precedent for future conditions where early intervention changes outcomes.

How does earlier detection influence decisions around corticosteroids, exon-skipping therapies, or upcoming gene therapies?

Earlier diagnosis through newborn screening fundamentally changes the timing and planning of therapeutic decisions in DMD.

• Corticosteroids:
  While the timing of steroid initiation in infants is still evolving, early identification allows clinicians and families to monitor closely and discuss steroid therapy before functional decline occurs. Early use of corticosteroids has been linked to prolonged ambulation and slower respiratory and cardiac decline when started before significant muscle loss.
• Exon-skipping therapies:
  Exon-skipping drugs are mutation-specific and generally more effective when there is more intact muscle tissue. Newborn screening means identifying eligible boys long before symptoms, creating an opportunity to initiate exon-skipping therapies at ages far younger than the typical 4- to 5-year diagnosis, which could maximize therapeutic benefit.
  Many DMD clinicians surveyed reported they would consider starting exon-skipping therapies by age 2 or earlier in infants identified via screening—a significant shift from historical practice.
• Upcoming gene therapies:
  For gene therapies that are age or disease-stage dependent, earlier diagnosis through newborn screening gives clinicians and families critical lead time to plan eligibility, baseline evaluations, and long-term follow-up. Even with current age restrictions (e.g., labeling updates that limit certain gene therapies to older, ambulatory patients), knowing a child’s diagnosis from birth enables earlier preparation and consideration of next-generation approaches.

Overall, earlier detection expands the therapeutic window, enabling interventions at stages when muscle tissue is relatively preserved and the potential for benefit is maximized.

How should clinicians counsel parents receiving a positive newborn screen, particularly before symptoms?

Counseling after a positive newborn screen for DMD requires a blend of information, support, and action planning:

Clarify the diagnosis and next steps

• Confirmatory testing is essential—explain that the screening result is preliminary and that genetic evaluation and dystrophin testing will establish a firm diagnosis.
• Outline the typical clinical course of DMD and emphasize the value of early monitoring and intervention.

Connect with expert care

• Prompt referral to a Duchenne-experienced neurologist or neuromuscular care team is critical. Early engagement with specialized care centers allows families to begin coordinated monitoring of motor, cardiac, and pulmonary function before symptoms appear.
• The MDA Resource Center and MDA Gene Therapy Support Network is available for families and physicians for guidance and support including guidance to the MDA Care Center Network.

Discuss early intervention options

• Explain how early identification broadens options for supportive therapies, including physical therapy, occupational therapy, and nutritional monitoring — all aimed at preserving function.
• Begin conversations about corticosteroid timing, eligibility for exon-skipping therapies (based on mutation type), and future gene therapy options as part of shared decision-making.

Genetic counseling and family planning

• A positive screen triggers genetic counseling for the family. Discuss carrier testing for the mother and siblings (as appropriate), implications for future pregnancies, and familial risk.
• Provide psychosocial support — receiving a diagnosis before symptoms can be emotionally challenging, so professionals should offer resources for coping strategies, community support networks, and advocacy groups.
• The MDA Resource Center and MDA Gene Therapy Support Network is available for families and physicians for guidance and support including guidance to the MDA Care Center Network.

Set expectations with empathy

• Be transparent about the progressive nature of DMD but also hopeful — emphasize that earlier detection gives families agency to plan, connect with expert care, and access therapies earlier in life.
• Encourage engagement with DMD care guidelines, research opportunities, and community organizations like MDA and PPMD for ongoing support.

Transcript was edited for clarity.