Early diagnosis of Duchenne muscular dystrophy (DMD) through newborn screening could give families more time to prepare for care and consider treatment options, although proof of long-term benefit is still limited, according to a review published recently in Pediatrics.
“Clinical guidance to promote earlier detection has not led to a decrease in the average age of diagnosis,” explained this review’s authors.
Families and clinicians have long pushed for earlier detection of DMD, as the average age of diagnosis in the United States has remained around 4.5 to 5 years for decades despite clinical guidelines and public awareness efforts.
Read more about testing and diagnosis for DMD
Newborn screening for DMD measures the muscle isoform of creatine kinase, which is released into the blood when muscle is damaged. Infants with very high levels of the muscle isoform of creatine kinase can undergo genetic testing to confirm a diagnosis.
What is creatine kinase?
Creatine kinase (CK) is an enzyme found in muscles. When muscles become damaged, CK leaks out of the muscles and into the bloodstream. In diagnosing DMD, CK levels are checked in a blood sample and if they are unusually high, this is a key indicator of DMD.
Those with borderline results may be retested after at least one week to see if the initial reading was related to birth stress rather than disease. Ohio and Minnesota already include DMD in their newborn screening panels, and other states are preparing to follow suit.
Treatment options for DMD have expanded in recent years. Glucocorticoids, such as prednisone, deflazacort and vamorolone, can slow muscle decline, although side effects remain a concern. Gene therapy and exon-skipping drugs are available for some patients, but their overall benefit is still under investigation. Some evidence suggests that younger siblings diagnosed earlier than older brothers with DMD may have better mobility scores at age 9, but these results have not been confirmed in large, peer-reviewed studies.
For families, early detection can mean more time to learn about available treatments, coordinate with specialists and adjust to the realities of living with DMD. It also opens the door to enrolling in research studies that may provide access to new therapies. Even so, experts caution that screening benefits depend on accurate testing, timely follow-up, and continued research to clarify the best age to start treatment.
With pilot programs showing feasibility and growing advocacy support, more states are likely to adopt newborn screening for DMD in the coming years. For patients and their families, this could mean turning years of uncertainty into answers within days of birth.
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