The US Department of Health and Human Services (HHS) has added two rare congenital neurologic disorders — Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) — to the newborn screening panel, stating that early detection will give children access to FDA-approved therapies that can slow disease progression.

“Early data changes the entire trajectory for affected children and their families,” said Health Resources and Services Administration (HRSA) Administrator Tom Engels in a statement. “A confirmed result in infancy replaces years of guesswork and helps families make informed decisions about treatment and support,” he added.

HHS noted that most children with DMD or MLD are diagnosed at ages 4-5, by which time substantial muscle loss or functional decline has often already occurred. In the US, DMD affects an estimated 1 in 3600 male births, primarily boys, whereas MLD occurs in roughly 1 in 40,000 births.

The agency said the decision to add both conditions to the Recommended Uniform Screening Panel (RUSP) followed “scientific review and public comment.”

The additions were initially proposed in two separate publications in the Federal Register in August. HHS had by then fired — without explanation — all the members of the Advisory Committee on Heritable Disorders in Newborns and Children, the two-decade-old panel that developed the RUSP.

The committee was disbanded in April, which “came just weeks before a scheduled vote on whether to recommend metachromatic leukodystrophy and Duchenne muscular dystrophy for inclusion on the RUSP,” attorneys Spreeha Choudhury and Richard Hughes IV wrote in an article in Health Affairs that warned of the potential implications of its dissolution.

The HRSA-administered advisory committee has never been reconstituted; however, the evidence it reviewed and prepared in support of adding DMD and MLD remains available on the committee’s homepage.

Many patient advocates were upset about the panel’s dissolution but welcomed the addition of both conditions to the RUSP.

“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, MPP, executive vice president, Public Policy and Advocacy at Muscular Dystrophy Association, said in a statement.

The MLD Foundation also noted in a release it had worked for 17 years to have screening for the disorder added to the RUSP.

Both organizations said they will work to ensure that screening for both conditions is incorporated into state programs nationwide.

Currently, about half of US infants are born in states that follow the RUSP. Across the 56 newborn screening programs, all states and Puerto Rico screen for at least 31 of the panel’s 37 core conditions.

Alicia Ault is a Saint Petersburg, Florida-based freelance journalist whose work has appeared in many health and science publications, including Smithsonian.com. You can find her on X @aliciaault and on Bluesky @aliciaault.bsky.social.