• Childhood-onset FSHD is part of the broad disease spectrum. • Early-onset cases are linked to faster progression and more comorbidities. • Multidisciplinary care, proactive management, and psychosocial support are key. • Transition from pediatric to adult care requires structured, continuous planning. • Clinical trials face challenges, but emerging biomarkers and outcomes show promise. Childhood-onset FSHD is part of the broad disease spectrum. Early-onset cases are linked to faster progression and more comorbidities. Multidisciplinary care, proactive management, and psychosocial support are key. Transition from pediatric to adult care requires structured, continuous planning. Clinical trials face challenges, but emerging biomarkers and outcomes show promise. Facioscapulohumeral dystrophy (FSHD) is among the most prevalent hereditary muscle disorders. While symptoms typically manifest during adolescence or early adulthood, a subset of patients experience onset in childhood. This article reviews childhood-onset FSHD, outlining its historical background, genetic mechanisms, epidemiology, clinical features, disease progression, and diagnostic considerations. Furthermore, it summarizes current recommendations for multidisciplinary management and highlights recent advances in research, including emerging therapeutic approaches for childhood-onset FSHD. This review thus provides the fundament for optimal symptomatic management and trial readiness.
Dijkstra et al. (Sun,) studied this question.