The average time of 2.2 years from having initial symptoms to being diagnosed with Duchenne muscular dystrophy (DMD) has not improved since 1982, according to a new study published in Muscle & Nerve.

The researchers analyzed a cohort of males diagnosed with probable or definite DMD from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

“Achieving an early diagnosis is important,” they said. “Implementation of established care guidelines for patients with DMD that focus on proactive monitoring of disease progression and the use of corticosteroids have proven critical in guiding clinicians to establish a standard of treatment.”


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With the recent development of disease-modifying treatments and gene replacement therapies, diagnosing DMD as early as possible, including an investigation into newborn screening, has shown to be critical.

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The authors conducted an initial study in 2009 on MD STARnet data for patients with DMD born between 1982 and 2000. They found an average age of DMD diagnosis of 5 years and an interval of 2.5 years between first symptoms and a final diagnosis.

The current study was a follow-up investigation on patients born after 2000, with the aim of assessing whether there have been improvements in the interval to diagnosis, and the results revealed no changes.

The lack of improvements in the time to diagnosis leads to missed opportunities for genetic counseling, participation in clinical trials, and access to new disease-modifying treatments such as exon skipping medications, 4 of which have recently been approved by the US Food and Drug Administration.

The authors recommend continued education of pediatric providers to identify and diagnose DMD as well as further investigation into newborn screening and whether early treatment improves outcomes in patients with DMD.

Reference

Thomas S, Conway K, Fapo O, et al. Time to diagnosis of Duchenne muscular dystrophy remains unchanged: findings from the muscular dystrophy surveillance, tracking, and research network (MD STARnet). Muscle & Nerve. Published online March 21, 2022. doi:10.1002/mus.28752