By Zachary Stieber
Contributing Writer
Two new conditions are now recommended for newborn screening, federal officials said last week.
Health Secretary Robert F. Kennedy Jr. approved adding Duchenne muscular dystrophy and metachromatic leukodystrophy, or DMD and MLD, to the list of disorders for which officials recommend screening newborns.
“Early detection of DMD and MLD allows children to receive … approved therapies at the most effective time, helping to slow their disease progression and preserve their quality of life,” Kennedy said during an event in Washington.
“If we detect it in children very early on … we can save them from a shortened life of misery.”
Conditions are added to the Recommended Uniform Screening Panel when evidence indicates there is a potential net benefit for screening. The panel already includes dozens of disorders, including trifunctional protein deficiency, a rare genetic disorder. States decide whether to adopt each recommendation.
DMD is a disorder caused by mutations to a gene that leads to limb and muscle weakness. Onset typically starts around age 2 or 3. It is estimated to occur in one in 3,500 to one in 5,000 newborn males, according to the Muscular Dystrophy Association.
A genetic disorder characterized by an enzyme deficiency, MLD leads to the buildup of fatty substances in cells, especially in the brain and spinal cord. It leads to a variety of symptoms, such as blindness and seizures, according to the Mayo Clinic.
Neither condition has a cure, although there are approved treatments to manage them.
The decision to recommend newborn screening for the disorders came after scientific review of the evidence and comments from the public, according to the Department of Health and Human Services.
Officials said that most children with DMD or MLD are diagnosed at age 4 or older, and detecting the disorders earlier will help families avoid repeatedly visiting specialists and taking other action during a search for a diagnosis.
“Early data changes the entire trajectory for affected children and their families,” Tom Engels, administrator of the department’s Health Resources and Services Administration, said in a statement. “A confirmed result in infancy replaces years of guesswork and helps families make informed decisions about treatment and support.”
Several members of Congress and parents of children with one of the conditions appeared with Kennedy and praised the addition of the disorders to the recommended screening.
Parent Project Muscular Dystrophy, an advocacy group, also hailed the move.
The addition “is a major step toward ensuring that newborns across the country are screened early,” it said in a statement.
Early identification can help families consult experts and access therapies sooner, and improve long-term outcomes, the organization said.
