OBJECTIVES: Duchenne Muscular Dystrophy (DMD) is a rare condition characterized by deterioration of muscle, resulting in loss of ambulation, decreased upper limb mobility, and impaired cardiorespiratory function. This study aimed to generate qualitative evidence on patient and caregiver experiences with symptoms of DMD and their impacts on overall function and daily life in ambulatory and non-ambulatory patients. Information was also gathered on expectations for new treatments for DMD.
METHODS: Forty-six dyads (caregiver and DMD patients aged 4 to 22 years) participated in 60-minute semi-structured video interviews. Interview transcripts were analyzed using thematic analysis. Differences in the patient experience by ambulation status were examined.
RESULTS: Mean age of ambulatory patients (n=28) and non-ambulatory patients (n=18) was 8.7 and 11.3 years, respectively. Ambulatory participants identified difficulty with lower extremity activities (e.g.; climbing stairs n=16; 57.1%, running n=13; 46.4%), upper extremity function, such as fine motor skills like holding pen/pencil or buttoning clothes (n=17; 60.7%), transfers (e.g., getting off the floor n=10; 35.7%) and activities of daily living (ADLs) like getting dressed (n=15; 53.6%). Non-ambulatory participants discussed problems with transfers (e.g., getting in/out of bed n=13; 72.2%; getting in/out of chair or position in bed, both n=10; 55.6%), upper extremity mobility, particularly reaching (n=14; 77.8%), and ADLs (getting dressed n=15; 83.3%). Lack of strength [ambulatory (n=28; 100.0%), non-ambulatory (n=17; 94.4%)] and fatigue [ambulatory (n=24; 85.7%), non-ambulatory (n=14; 77.8%)] were the biggest impacts of DMD. Maintaining current functioning, improved muscle strength (n=7; 25.9%), and reduced fatigue (n=6; 22.2%) were identified as meaningful treatment goals by ambulatory patients. Non-ambulatory patients desire increased upper extremity strength (n=8; 42.1%) and greater independence in ADLs (n=6; 31.6%).
CONCLUSIONS: This study contributes to the limited qualitative literature by including both the ambulatory and non-ambulatory patient experience of living with DMD which can inform patient-centered measurement strategies in clinical trials.