Management of FSHD symptoms: current assistive technologies and pharmacological approaches

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetically linked disorder characterized by the progressive deterioration of muscles controlling facial and scapular movement. The severity and distribution of affected muscle groups vary significantly across patient demographics, necessitating diverse assistive approaches.

This review aims to evaluate the effectiveness of assistive devices and therapeutic options, including medications and rehabilitative therapies, tailored to specific manifestations of FSHD.

An analysis of existing literature and clinical trials was conducted to explore current assistive technologies and pharmacological treatments, focusing on their application to FSHD patients with varying symptom severity.

Although several pharmacological treatments, such as steroids, supplements, protein inhibitors, and knockout strategies, are under investigation, none have yet fully counteracted the disease process driven by toxic DUX4 production. Consequently, the broad assortment of assistive devices currently on the market remain critical for improving quality of life.

Despite advances in pharmacological research, the variability in FSHD manifestations necessitates a personalized approach combining assistive technologies and tailored therapeutic interventions. Future research should continue exploring integrative strategies to address the unique needs of FSHD patients.