Opinion
Video
Navigating Duchenne Muscular Dystrophy: An Early-Childhood Case Example
Author(s):
An expert discusses the evolving treatment landscape of Duchenne muscular dystrophy (DMD), highlighting advances in gene therapy, exon-skipping agents, and novel corticosteroids that aim to slow disease progression, improve muscle function, and enhance quality of life, while emphasizing the growing role of personalized medicine and early intervention in optimizing long-term outcomes.
Summary for Physicians
Early Intervention in DMD
This case highlights the importance of early diagnosis through newborn screening, enabling presymptomatic intervention in DMD. A 6-month-old infant diagnosed via screening in Ohio with an exon 51 skipping–amenable mutation is a candidate for phosphorodiamidate morpholino oligomer (PMO) exon-skipping therapy, with gene therapy considered after age 4. His older sibling, diagnosed later, is eligible for steroids, PMO, and eventual gene therapy.
Treatment Considerations and Family Preferences
Families may opt for a wait-and-see approach due to concerns about early intervention. However, clinical guidance supports initiating therapy based on clinical changes, emphasizing the role of early PMO use, steroids from age 2, and ongoing multidisciplinary care (physical therapy, occupational therapy, speech therapy). Access challenges, such as weekly infusions and port placement, must be balanced with potential long-term benefits in motor, cardiac, and respiratory function.
Future Directions
Gene therapy post–age 4 is viable if no contraindications (eg, exon 8/9 deletions, positive antibody status) are present. Comprehensive family counseling on treatment options, adverse effects, and quality of life considerations remains essential.
