Background: Muscular dystrophy (MD) symptoms and disease progression impact daily functioning and quality of life (QoL), necessitating early targeted interventions. Our goal was to identify QoL factors in adults with MD using PROMIS surveys.
Methods: Adults with MD (N=244) across the USA completed online PROMIS surveys covering mood, worry, stress, physical function, fatigue, pain, sleep, socialization, self-efficacy. QoL was assessed through a composite score. Descriptive, parametric, non-parametric, and post-hoc tests were conducted to describe the population and determine group differences by MD type. Correlation analyses investigated relationships between participant characteristics and QoL.
Results: Overall, DMD showed better QoL compared to DM1, DM2, and FSHD (p<.0001). Severe impairment in physical function was observed across groups, with DMD scoring significantly lower (p≤.0001). DM1 and DM2 exhibited clinically moderate fatigue, while DM2 had elevated sleep disturbance that significantly differed from DMD and FSHD. Pain was significantly less in DMD compared to DM1, DM2, and FSHD (p≤.0001). Adults with DMD had low self-efficacy for managing daily activities, differing significantly from DM1, DM2, and FSHD (p≤.0001). Adults with DM2 had low self-efficacy for managing social interactions, differing significantly from DMD and FSHD (p≤.0001). Depression, fatigue, sleep problems, perceived stress, and social isolation strongly correlated with overall QoL. Conclusion: Adults with DMD deomonstrated better overall QoL compared to those with DM1, DM2, and FSHD, highlighting a significant impact of the specific dystrophy type. While all groups experienced moderate to severe physical impairment, physical function level was lowest in DMD, and unique patterns of fatigue, sleep problems, and pain were observed across dystrophy types. These findings underscore the importance of considering both physical and psychosocial factors in understanding the nuanced challenges and well-being of individuals with different MDs.