‘Planning for Dying While Planning for the Future’: A Qualitative Evidence Review of the Severity and Unpredictability of Progression, Dying, and End of Life in People With Late-Onset Forms of Spinal Muscular Atrophy and Their Families

Spinal muscular atrophy (SMA) is a severe, life-limiting neuromuscular condition associated with progressive disability and premature death. The condition significantly affects the quality of life of patients and their families, often resulting in psychological distress and unmet care needs. Despite growing clinical interest, qualitative evidence on the lived experiences of individuals with late-onset SMA types (II, III, IV) remains limited. This review aimed to synthesize qualitative findings on patient and family experiences in the context of complex symptomatology, unpredictable progression, burdensome caregiving, anticipatory grief, and end-of-life processes. A systematic search across EBSCO Discovery Service, Web of Science, SCOPUS, PubMed, and ProQuest identified 785 studies, of which seven met the inclusion criteria. The review followed PRISMA and SPIDER guidelines, and thematic synthesis revealed three key themes: (1) SMA as a serious condition with challenging symptomatology; (2) Severity of psychosocial impacts of SMA; (3) SMA in the context of experienced loss and premature death.