Navigating the Complexities of Adolescent Duchenne Muscular Dystrophy

Clinical Brief: Treatment Decision Points in DMD Transition Phase

Main Discussion Topics

• 13-year-old male with DMD diagnosed at age 5, amenable to exon 45 skipping, with mutation in exon 51
• Patient has maintained ambulation until recently with daily prednisone since diagnosis
• Critical decision point regarding initiation of genetic therapies (exon skipping vs. gene therapy)
• Importance of monitoring cardiac and pulmonary function during transition to wheelchair dependence

Key Points for Physicians

• Loss of ambulation around age 13 represents a typical DMD progression milestone
• Integrated multidisciplinary care approach is essential for coordinating specialists
• FDA approval for gene therapy now includes patients 4 years and older (expanded from initial 4-6 age range)
• This transition period represents a critical window for initiating genetic therapies

Notable Insights

The case demonstrates a typical progression pattern with preserved upper limb function during transition to wheelchair dependence. Recent expansion of gene therapy approval criteria offers additional therapeutic options at this critical juncture.

Clinical Significance

The timing of genetic therapy initiation at this functional transition stage may significantly impact long-term outcomes, requiring careful consideration of both exon skipping and gene therapy approaches through thorough risk-benefit analysis and detailed discussions with the family.