Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials

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.