HHS Adds DMD, MLD to Recommended Newborn Screening Panel

Rare Daily Staff

The U.S. Department of Health and Human Services approved the addition of Duchenne muscular dystrophy and metachromatic leukodystrophy to the Recommended Uniform Screening Panel.

The Recommended Uniform Screening Panel (RUSP) is the list of conditions the department recommends for universal newborn screening. States choose whether to adopt each screening.

Duchenne muscular dystrophy (DMD) is a progressive, degenerative muscle disease caused by mutations in the DMD gene, which encodes dystrophin, a protein involved in muscle cell structure and signaling pathways. Without dystrophin, muscles throughout the body degenerate and become weak, eventually leading to loss of movement and independence, the need for breathing support, cardiomyopathy, and premature death.

Metachromatic leukodystrophy (MLD) is a rare, inherited genetic disease in which fats build up and destroy myelin, the protective nerve covering, causing progressive neurological damage that leads to loss of motor skills, cognitive decline, behavioral changes, and eventual paralysis.

Most children with DMD or MLD are diagnosed at 4 or 5 years of age, when significant muscle loss or functional decline has already occurred. Adding these conditions to the RUSP will not only help children retain abilities for a longer period, but also give families a better chance to avoid the long delays, repeated specialist visits, and financial and emotional strain that often define the years-long diagnostic search for rare diseases.

Early detection of both conditions allows children to receive Food and Drug Administration–approved therapies at the most effective time, helping to slow disease progression and preserve their quality of life.

“As my uncle has said, ‘Although children may be the victims of fate, they will not be the victims of our neglect,’” said Secretary Robert F. Kennedy Jr. “This action honors that principle. 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.”