Advocates cheer federal push to test every newborn for Duchenne
DMD added to national list of recommended screening to ensure early diagnosis
Every newborn in the United States should now be screened for Duchenne muscular dystrophy (DMD), according to a recommendation from the U.S. Department of Health and Human Services (HHS).
This federal decision marks a turning point for rare disease advocacy, potentially ending the “diagnostic odyssey” that many families face when seeking answers for their children’s symptoms.
“Early diagnosis changes lives, and this milestone brings us closer to ensuring that every child has access to care, treatment, and support from the very beginning,” Pat Furlong, founder and president of the advocacy organization Parent Project Muscular Dystrophy (PPMD), said in a statement to Muscular Dystrophy News.
Furlong described the new guidance as a “landmark moment” for the community, noting that PPMD will continue to help ensure that screening is implemented effectively and equitably across all 50 states.
A victory for collaborative advocacy
Other groups, including the Muscular Dystrophy Association (MDA) and the National Organization for Rare Disorders (NORD), also applauded the decision as a win for the DMD community. NORD called on Congress to pass the Newborn Screening Saves Lives Reauthorization Act, bipartisan legislation designed to modernize and strengthen screening programs nationwide.
“This achievement reflects the dedication of hundreds of families, dozens of clinicians and researchers, and many partners who have championed timely detection for years,” Paul Melmeyer, executive vice president for public policy and advocacy at MDA, said in a press release. “It is a testament to the power of collaboration and this community’s shared commitment to ensuring every child with Duchenne has the best possible start in life.”
DMD is a genetic disorder that primarily affects boys, causing progressive muscle weakness and wasting. While a cure for DMD has not yet been found, the landscape of care has shifted dramatically. Recent years have seen the approval of several new treatments, including Elevidys, the first gene therapy for the condition.
Most children with DMD do not show overt signs of muscle weakness until 4 or 5 years of age. Because symptoms are subtle in infancy, parents often spend months or years navigating a frustrating path to an accurate diagnosis. The delay in getting diagnosed means that patients also have to wait to access treatments. At the same time, the disease continues to progress, and the window for early intervention, when treatments are often most effective, begins to close.
“For generations, families affected by Duchenne have faced long diagnostic delays that cost precious time,” Furlong said.
While overt DMD symptoms appear later, the genetic mutation responsible for DMD is present from conception. At birth, babies with the condition already show elevated levels of specific muscle damage markers. By screening newborns within their first few days of life, clinicians can bypass years of uncertainty for families and begin monitoring or treatment immediately.
In the U.S., newborn screening programs are administered on a state-by-state basis. Currently, only Ohio and Minnesota are actively screening for DMD. While states like Arizona, Massachusetts, and New York have passed legislation to start programs, they are not yet operational. However, the new federal guidance is expected to accelerate progress in the dozen other states currently considering similar action.
Federal recognition of the RUSP
The decision officially adds DMD to the Recommended Uniform Screening Panel (RUSP), the federal list of disorders that HHS suggests all states include in their programs. Another rare genetic disorder, metachromatic leukodystrophy, was also added to the panel.
“As my uncle has said, ‘although children may be the victims of fate, they will not be the victims of our neglect.’ This action honors that principle,” HHS Secretary Robert F. Kennedy, Jr. said in an HHS press release. “Early screening gives every child a fair chance at timely, effective care, and it delivers families the answers and treatment options they deserve — right when they need them most.”
Several Members of Congress chimed in with their views on this landmark moment. Senator Roger Wicker (R-MS) recalled a meeting nearly 25 years ago with a constituent whose son had been diagnosed with DMD, an encounter that sparked his long-term involvement in the cause.
“That conversation kicked off decades of work. It has been among my greatest joys in Congress to help combat DMD and other muscular dystrophies,” he said. “Including DMD in universal screening for newborns will be transformational. I will continue to bring awareness to DMD. I encourage every state to implement this life-changing screening.”
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