A new report on the early diagnosis of Duchenne muscular dystrophy (DMD) has been published in the Journal of Neuromuscular Disorders. This report summarises the findings from TREAT-NMD’s 2023 international workshop, which brought together 42 experts from Europe, the US, and Australasia, including healthcare professionals, researchers, and individuals with lived experience.
The workshop addressed the challenges and opportunities of diagnosing DMD in the presymptomatic or very early symptomatic stages. While a diagnosis of DMD is crucial at any age, early detection—particularly before or around two years of age—presents unique considerations for both families and healthcare providers.
There is currently limited evidence on the best models of care for children diagnosed in these early stages. TREAT-NMD’s workshop aimed to provide clarity by discussing multidisciplinary care approaches for early diagnoses. Importantly, early signs of DMD may not always involve motor symptoms; in some cases, speech delays or neurodevelopmental concerns may be the first indicators, highlighting the need for a broader view of diagnosis.
Although the report does not define a specific age for early diagnosis, much of the discussion centred on children diagnosed before the age of two. The recommendations from the workshop offer clinicians guidance on how to support children and families following an early diagnosis.
The full report, available through the Journal of Neuromuscular Disorders here, provides important insights and recommendations for healthcare providers and researchers alike.
This effort reflects TREAT-NMD’s dedication to improving care for those affected by neuromuscular diseases and supporting families through the early stages of a DMD diagnosis.
