DMD Case Study: Treatment Decisions, and Managing Multisystem Complications

Dr. Brandsema presents a representative clinical case to ground the discussion in real-world practice. The patient is a 14-year-old boy first evaluated at age 4 after his parents noticed tripping and difficulty climbing stairs, accompanied by calf muscle enlargement. Laboratory workup revealed a markedly elevated creatine kinase, and genetic testing confirmed an exon 51 amenable deletion in the dystrophin gene. He was initiated on a corticosteroid shortly after diagnosis, though dose adjustment was required at age 8 due to progressive weight gain. At age 11, an FDA-approved exon skipping therapy was added to promote production of a truncated but partially functional dystrophin protein. Despite these interventions, he lost ambulation at age 12. He has since developed hypertension and early left ventricular dysfunction managed with an ACE inhibitor, mild restrictive lung disease requiring nocturnal ventilatory support, and steroid-induced osteoporosis monitored with bone density imaging and managed with bone health supplementation.

Dr. Veerapandiyan confirms this profile is representative of cases seen regularly in clinic. He highlights two critical principles that apply to this and every DMD patient. First, setting clear and realistic expectations at each stage of therapy introduction is essential. Families often hope that initiating a new treatment will halt or reverse imminent decline — for example, preventing loss of ambulation — and clinicians must communicate honest, stage-appropriate goals upfront. Second, disease heterogeneity means that no two patients follow identical trajectories. Clinical trial outcomes are generated in tightly selected, controlled populations and cannot be directly mapped onto an individual patient's experience. Each person with DMD must be understood on their own terms, and families should be prepared for outcomes that may differ meaningfully from published data.

In the next episode, "DMD Treatment Changes: Combination Therapy, Adherence, and Gene Therapy Access," the panel explores how clinicians approach adding or modifying therapies over time and how families navigate the growing complexity of treatment decisions.