OBJECTIVES: Limb girdle muscular dystrophies (LGMDs) are a group of rare, genetically and phenotypically heterogeneous disorders involving progressive weakness and wasting of the shoulder and pelvic girdle musculature. This study aimed to generate qualitative evidence on patient and caregiver experiences with symptoms of LGMD and its impacts on overall function and daily life for sarcoglycanopathy subtypes 2C, 2D, and 2E.

METHODS: Twenty-three individuals or dyads (caregiver with individual aged 4-17 years) with LGMD participated in 60-minute semi-structured video interviews about their experience living with LGMD. Interview transcripts were analyzed using thematic analysis. Differences in the patient experience by ambulation status and LGMD subtype were examined.

RESULTS: Participants were ambulatory (n=14) and non-ambulatory (n=9), representing three subtypes: 2C (n=4), 2D (n=12) and 2E (n=7). Mean age of participants was 40.9 years, and 50% were female. Conceptual saturation was achieved within twenty-three interviews. Differences in symptoms and impacts emerged by ambulation status but not by subtype. Ambulatory participants identified difficulty with more complex physical activities (e.g. running; climbing stairs; n=11, 78.6%), upper (n=12, 85.7%) and lower (n=11, 78.6%) extremity weakness and difficulty getting off the floor (n=10, 71.4%). All non-ambulatory participants discussed problems with activities of daily living (ADLs), difficulty with transfers (e.g. getting in/out of bed) and upper extremity mobility, particularly reaching (n=8, 88.9%) and fine motor skills (n=6, 66.7%). Fatigue and pain were reported by the majority of participants (n=16, 69.6% and n=19, 82.6%, respectively). A conceptual disease model was developed illustrating the symptoms, impacts and their relationships to disease stage, capturing the patient experience across LGMD disease trajectory.

CONCLUSIONS: This study contributes to the limited qualitative literature and describes the patient experience of living with LGMD. The conceptual model can inform patient-centered assessment in future LGMD clinical trials.