Duchenne muscular dystrophy (DMD) is a rare, progressive, life-threatening pediatric neuromuscular disease. Disruption to daily activities can begin as early as aged 3 years, while loss of ambulation generally occurs in early adolescence. This study aimed to explore the symptoms and impacts of DMD on health-related quality of life (HRQoL), activities of daily living (ADLs), and physical functioning.

Fifteen primary caregivers of males with DMD participated in a 60-minute, semi-structured telephone/online interview. Transcripts were qualitatively analysed using thematic analysis methods and two conceptual models for ambulatory and non-ambulatory DMD were developed.

Conceptual saturation was largely achieved for the sample recruited (n=15). The sample included a range of key clinical and demographic characteristics; ambulatory status (ambulatory [n=9], non-ambulatory [n=6]), age (7-15 years, median=11 years), ethnicity and school grade. The resulting conceptual model of ambulatory patients with DMD indicated that progressive muscle weakness causes significant limitations to physical functioning of the lower limbs e.g., difficulty running, using stairs, walking and transferring. The non-ambulatory model highlights the further impact on aspects of upper limb functioning including reaching above the head and hand grip. ADLs are subsequently impaired in ambulatory and non-ambulatory individuals, including difficulties with sports/leisure/play activities, getting dressed and washing/bathing. Fatigue and pain were also experienced which further limited physical functioning and ADLs. Broader impacts on HRQoL included impairment in emotional well-being and cognitive-behavioral functioning.

This study highlighted the considerable impact of DMD on patients’ HRQoL, ADLs and physical function. The conceptual models present the impact of living with ambulatory and non-ambulatory DMD and contribute to the minimal qualitative literature reporting the holistic patient experience. The conceptual models provide insight into the most important impacts of DMD from the caregiver perspective and should be used to inform patient-focused measurement strategy in future DMD clinical trials.