Major Points:
- Introduction to DMD: Duchenne muscular dystrophy is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene. It leads to progressive muscular damage, degeneration, and eventually death due to cardiac or respiratory compromise.
- Need for Update: The report emphasizes the need for updated care considerations due to improved patient survival, advances in diagnostic and therapeutic strategies, and emerging genetic and molecular therapies.
- Multidisciplinary Care: The report stresses the importance of multidisciplinary care involving various subspecialties to improve patient outcomes and quality of life.
- New Topics: The updated care considerations introduce three new topics—primary care and emergency management, endocrine management, and transitions of care across the lifespan.
- Diagnosis and Management: The report covers diagnosis, neuromuscular management, rehabilitation management, endocrine management (including growth, puberty, and adrenal insufficiency), and gastrointestinal management (including nutrition and dysphagia).
Findings:
- Shift in Approach: There is a shift towards more anticipatory diagnostic and therapeutic strategies to prevent, identify, and treat predictable and potentially modifiable disease complications.
- Quality of Life: An increasing emphasis is being placed on improving the quality of life and psychosocial management of DMD patients.
- Transitions of Care: There is an urgent need to coordinate and improve patient transitions from childhood to adulthood.
- Efficacy of Therapies: New information is available on the efficacy, side-effects, and limitations of glucocorticoids, which are commonly used in DMD management.
- Methodology: The guidance in this update is not conventionally evidence-based due to the rarity of the disease. Expert opinions and existing scientific literature form the basis of the recommendations.