Early diagnosis of Duchenne muscular dystrophy - a Treat-NMD international workshop

Journal article

The diagnosis of Duchenne muscular dystrophy (DMD) is significant at any stage, however an early diagnosis in a presymptomatic or very early phase of DMD, offers unique opportunities and challenges for families and health care providers. Currently, there is limited evidence as to the optimal models of care during this stage of the condition. To address this, in 2023, Treat-NMD facilitated the Early Diagnosis for DMD project; bringing together 42 experts from across Europe, the US and Australasia, including health care professionals, researchers, and people with lived experience to discuss the complexities of an early or newborn diagnosis of DMD, and provide recommendations regarding approaches to multidisciplinary care. A series of virtual meetings followed by a hybrid workshop resulted in broad recommendations to support clinicians in caring for children and families following an early diagnosis of DMD. The workshop did not define a cut-off for early diagnosis, however much of the discussion focused on diagnoses that occurred prior to 2 years. There is recognition that boys may first present with non-motor symptoms, such as speech delay or neurodevelopmental issues that are secondary to their dystrophinopathy, and therefore this report refers reflects that infants with DMD may be presymptomatic or early symptomatic.

Authors: Lorentzos, M; Parsons, JA; Jones, KJ; Servais, L

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Elsevier
• Journal: Neuromuscular Disorders
• Volume: 45
• Article number: 104467
• Publication date: 2024-10-01
• Acceptance date: 2024-10-01
• DOI: 10.1016/j.nmd.2024.104467
• EISSN: 1873-2364
• ISSN: 0960-8966
• Pmid: 39427485
• Language: English
• Keywords: Newborn screening; Duchenne muscular dystrophy; dystrophinopathy