Facioscapulohumeral muscular dystrophy: revisiting three prevailing assumptions through the perspective of FSHD Europe.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited muscular dystrophies and the focus of rapidly expanding therapeutic development. Yet several longstanding assumptions continue to shape discussions among researchers, clinicians, regulators, and industry stakeholders in ways that may not fully reflect the experiences of people living with FSHD. In this Patient Forum, FSHD Europe presents perspectives arising from extensive engagement with the patient community and participation in international initiatives. We address three commonly cited assumptions: that FSHD is a slowly progressive disease, that it can be divided into infantile and classic forms, and that no treatments are available. We argue that FSHD is better described as a progressive disease with a highly variable course, reflecting the heterogeneity of patient experiences and disease burden. We also highlight recent international consensus that childhood-onset FSHD represents part of a continuous disease spectrum rather than a distinct subtype. Finally, although disease-modifying therapies remain under development, evidence-based symptomatic and multidisciplinary care already provides meaningful treatment and should remain central to care alongside future molecular therapies. These perspectives emphasize the importance of integrating lived experience into research, drug development, health technology assessment, and healthcare decision-making, ensuring that future therapies address outcomes that matter most to people with FSHD.