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Early diagnosis of Duchenne muscular dystrophy - A Treat-NMD international workshop
M Lorentzos1, J A Parsons2, K J Jones3
1Department of Neurology and Neurosurgery, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia; Faculty of Medicine and Health, Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Insights
Early diagnosis of Duchenne muscular dystrophy (DMD) presents challenges and opportunities. This project gathered experts to develop recommendations for optimal multidisciplinary care for infants and families.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Early diagnosis of Duchenne muscular dystrophy (DMD) offers unique opportunities and challenges for families and healthcare providers.
- Limited evidence currently exists regarding optimal models of care for presymptomatic or very early-stage DMD.
- Infants with DMD may be presymptomatic or present with non-motor symptoms like speech delay or neurodevelopmental issues.
Purpose of the Study:
- To address the need for evidence-based models of care for early-diagnosed DMD.
- To develop recommendations for multidisciplinary care approaches following early or newborn DMD diagnosis.
Main Methods:
- Convened the Treat-NMD Early Diagnosis for DMD project in 2023.
- Brought together 42 international experts (healthcare professionals, researchers, individuals with lived experience).
- Conducted virtual meetings and a hybrid workshop to discuss complexities and formulate recommendations.
Main Results:
- Generated broad recommendations to support clinicians in caring for children and families after an early DMD diagnosis.
- Discussion focused on diagnoses occurring before two years of age, without defining a strict cut-off.
- Acknowledged that early symptoms can be non-motor, related to dystrophinopathy.
Conclusions:
- Multidisciplinary care is crucial for optimizing outcomes in early-diagnosed DMD.
- Further development of care models is needed to support affected infants and families.
- Expert consensus provides a foundation for improved clinical practice in early DMD management.
Abstract:
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.
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