Overview of facioscapulohumeral dystrophy clinical features and diagnostic pathway

Facioscapulohumeral dystrophy is a common muscular dystrophy typically presenting between 15 and 30 years of age and is caused by aberrant DUX4 expression. It is characterized by progressive, asymmetric weakness primarily affecting facial, shoulder girdle, and upper arm muscles. However, there is significant phenotypic variability, with many patients experiencing broader muscular and multisystemic involvement, including high-frequency hearing loss, retinal vasculopathy, respiratory muscle weakness, and often chronic pain and fatigue. Diagnosis relies on a thorough clinical history and physical examination, confirmed by specific genetic testing for facioscapulohumeral dystrophy. While muscle biopsy and imaging are not primary diagnostic tools, they serve as important biomarkers in therapeutic trials. Current management is multidisciplinary, focusing on symptomatic relief, physical and occupational therapy, and the management of specific systemic complications. Significant efforts are being made to improve trial readiness at research centers and trial fitness among patients. Although no disease-modifying therapies are currently approved, numerous clinical trials are underway, fostering hope for effective treatments in the near future.