Living with FSHD: a patient-led narrative review of psychosocial well-being in facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is associated with substantial psychosocial challenges not fully captured by traditional biomedical outcomes, including challenges that may persist despite stable clinical or QoL scores. This patient-led narrative review synthesizes and reinterprets the literature on psychosocial well-being in FSHD through a lived-experience lens to highlight patient-prioritized concerns. Qualitative and quantitative studies measuring psychosocial well-being were included. The synthesis identified five interrelated themes characterizing the included papers: (1) symptom burden and psychosocial correlates; (2) longitudinal studies of children and adults; (3) psychosocial effects of visible FSHD symptoms; (4) the impact of invisible symptoms, including pain, fatigue, and sleep disturbance; and (5) psychosocial interventions targeting well-being. To assist in the interpretive synthesis, a novel Exploratory Patient-informed Research Reflection Tool was developed and applied to examine the extent to which outcomes, methods, and interpretations reflected patient involvement and priorities. Use of the tool showed how few published well-being studies document patient involvement in study design, implementation and dissemination. The review hypothesizes the presence of psychosocial "transition points," defined as moments when changes in physical functioning or life context threaten valued activities, roles or relationships, prompting cognitive, emotional, and behavioral adjustments that shape well-being. The findings underscore the value of patient-informed interpretation of psychosocial research in FSHD and provide a clinically meaningful framework to guide outcome selection, psychosocial support, and future research.