Facioscapulohumeral Muscular Dystrophy: A Comprehensive Guide for Shoulder Surgeons

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary myopathy and a major cause of progressive shoulder girdle dysfunction. Despite its clinical relevance, FSHD diagnosis is often delayed or mistaken for peripheral nerve disorders. For the shoulder surgeons, FSHD presents a challenge in which progressive degeneration of the periscapular musculature results in scapular winging and impaired overhead activity. Physical examination is relevant for surgical decision-making, including assessment of scapular winging, deltoid integrity, and response to manual scapular stabilization. Nonoperative treatment may provide symptomatic support, but evidence remains limited. Scapulothoracic arthrodesis is the principal surgical option for appropriately selected patients, particularly those with severe scapular winging, active elevation below 90°, and preserved deltoid function. This review provides a clinically focused overview of FSHD for shoulder surgeons, emphasizing clinical presentation, diagnostic evaluation, and surgical patient selection, operative technique, rehabilitation, expected outcomes and complications.