Quality of life of individuals with neuromuscular disease: a national cross-sectional survey

To describe health utility scores among individuals living with neuromuscular disorders (NMDs) and examine sociodemographic, clinical, and economic factors associated with these outcomes. We conducted a nationwide, cross-sectional survey of individuals with NMDs and caregivers enrolled with Muscular Dystrophy Canada. Health-related quality of life (HRQoL) was assessed in adults using the Health Utilities Index Mark 3 (HUI3) and in minors using parent-proxy responses to the Pediatric Quality of Life Inventory Neuromuscular Module (PedsQL-NMM). Multivariable generalized linear models were used. The sample included 850 adults (mean [SD] age, 56 [16] years, 52% female) and 94 minors (mean [SD] age, 11 [5] years, 44% female). Mean HUI3 score was 0.27 (SD:0.31) and mean PedsQL-NMM score was 45.9 (SD: 18.7). Among adults, lower HUI3 was associated with moderate/severe financial toxicity (RR, 0.43; 95% CI: 0.35, 0.53), longer disease duration (RR per 5-year increase, 0.97; 95% CI: 0.96, 0.99), autoimmune myopathies (RR, 0.87; 95% CI: 0.79, 0.95), Charcot-Marie-Tooth disease or genetic neuropathies (RR, 0.72; 95% CI: 0.60, 0.86), spinal and bulbar muscular atrophy (RR, 0.81; 95% CI: 0.67, 0.98), inability to work (RR, 0.49; 95% CI: 0.37, 0.65), retirement (RR, 0.81; 95% CI: 0.74, 0.89) and early retirement (RR, 0.66; 95% CI: 0.53, 0.83). Among minors, PedsQL-NMM scores were higher at ages 10–14 versus 0–4 years (RR = 1.47, 95% CI: 1.12, 1.93). NMDs are associated with marked reductions in HRQoL. Disease heterogeneity, financial strain, and social factors should be considered in economic evaluations and health policy decision-making for NMDs. • Neuromuscular diseases (NMDs) are chronic, often progressive conditions associated with weakness, functional limitations, and reduced participation in work and daily activities. However, population-based evidence describing health related quality of life (HRQoL) among NMD populations remains limited. • This national study of 850 adults and 94 minors with NMDs demonstrated substantial reductions in HRQoL across age groups (mean HUI3 0.27; PedsQL-NMM 45.9) and identified financial toxicity, employment disruption, disease duration and selected clinical characteristics as major determinants of HRQoL. • Findings highlight the need to incorporate socioeconomic burden and disease heterogeneity into economic evaluations and policy decisions for NMD populations.