Why carry out this study?

Duchenne muscular dystrophy (DMD) is a neuromuscular disease primarily impacting males, characterized by progressive muscular degeneration from birth resulting in loss of ambulation (LOA) and upper limb function, pulmonary dysfunction, cardiomyopathy and early mortality

While previous studies investigating the health-related quality-of-life impact and lived experience in DMD have been conducted, more in-depth qualitative investigations into the emotional and social implications of DMD are needed

We asked patients and family caregivers what they consider to be the social and emotional implications of key disease transitions and what are the challenges and adaptations necessary throughout the disease course

What was learned from the study?

The study findings provide insight into the strength and resilience with which individuals and their families respond to daily challenges and major clinical milestones

The findings highlight the relative importance of loss of upper limb function as a transition in DMD affecting health-related quality-of-life