A new evidence review published in Pediatrics found that while newborn screening for Duchenne muscular dystrophy (DMD) can potentially identify children with the disease before symptoms develop, questions remain about its effectiveness and the benefits of earlier diagnosis and treatment.
The goal of newborn screening is to identify conditions that benefit from treatment before clinical signs of the disease appear. Despite advances in DMD diagnosis and treatment, the average age of diagnosis in the United States has remained around age 4.5 to 5 over the past 40 years.
The review summarized the evidence available on DMD newborn screening through June 2025, with the goal of informing experts considering additions to the Recommended Uniform Screening Panel, a list of conditions the U.S. Secretary of Health and Human Services recommends all newborns be screened for.
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The review found that while DMD screening in newborns is technically feasible, it is prone to false positives. Newborn screening involves measuring CK-MM, a muscle-specific form of creatine kinase, from a dried blood spot collected shortly after birth. Elevated CK-MM can indicate muscle damage but can be the result of birth trauma or other conditions, so infants with abnormal results may require repeat testing and genetic analysis of the DMD gene.
Learn more about DMD signs and symptoms
Earlier identification may allow treatment to begin before substantial muscle damage occurs, but the best age for starting treatment remains uncertain. The review’s authors noted there haven’t been any controlled trials studying early glucocorticoid use. The evidence on early use of exon-skipping medications is also unclear, and treatment with gene therapies may lead to the development of antibodies that rules out the patient using gene therapies developed in the future.
The U.S. is already beginning to gain experience with DMD newborn screening. Ohio began screening in April 2024 using CK-MM as a first-tier test, while Minnesota began screening in February 2025. Through May 2025, nearly 140,000 newborns had been screened in Ohio, although outcome data were not yet available. In Minnesota, 14,963 newborns had been screened, with 67 having borderline-positive results; none of the infants who underwent repeat screening had been diagnosed with DMD or Becker muscular dystrophy.
Other states are also moving toward screening. New York approved DMD screening in 2023, and Illinois passed legislation in 2024. Massachusetts required screening to be implemented by June 2026, while Florida and Texas passed screening laws in May 2025.
The authors concluded that newborn screening for DMD is feasible but noted that additional evidence is needed to determine the health benefits of identifying and treating children through screening before symptoms develop.
