A portrait of facioscapulohumeral muscular dystrophy through history: past milestones and future challenges on the road to understanding and treatment.

This review explores the evolving landscape of facioscapulohumeral muscular dystrophy (FSHD), from its earliest clinical descriptions to current advances in research, trials, and care. We begin with one of the first documented case reports of FSHD, highlighting clinical features that remain central to diagnosis today. This historical context provides the foundation for a chronological overview of key milestones in our understanding of FSHD. These include breakthroughs in understanding its genetic and epigenetic mechanisms, the identification of the pathological processes, key developments in therapeutic strategies and clinical trials, and the growing recognition of the patient's voice in shaping research and clinical priorities. By examining how both basic and clinical scientific understanding have evolved, through iterative hypotheses, technological progress, and shifting perspectives, we highlight key lessons learned over time and their impact on current efforts and future directions in the field.