Summary
The U.S. Department of Health and Human Services (HHS) has added two rare diseases, Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD), to its list of recommended newborn screenings. Early detection of these conditions can lead to timely treatments that might improve outcomes for affected children.
Key Facts
- HHS recommends adding DMD and MLD to newborn screening lists.
- DMD is a progressive illness affecting 1 in 5,000 newborn males; it causes muscle weakness and potentially early death if untreated.
- MLD is a fatal neurodegenerative disease affecting children under age 5 if undiagnosed.
- Early screening allows for treatments like gene therapies that can improve outcomes.
- Currently, only Minnesota, New York, and Ohio screen newborns for DMD.
- Children with these diseases are typically diagnosed at 4 to 5 years old, which is often too late for early interventions.
- Early diagnosis through newborn screenings could benefit over 8,000 infants annually by enabling earlier treatment.
