Abstract
Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness, primarily affecting the facial, shoulder, and upper arm muscles. In this literature review, we examined the available treatments for FSHD, covering established methods and experimental approaches. We began with an overview of pharmacological treatments, emphasizing the importance of physical therapy and rehabilitation in maintaining muscle strength, improving mobility, preventing contractures, and respiratory therapy for severe cases. We also explored exercise interventions, addressing the debate surrounding exercise in FSHD patients, and highlight the possible benefits of aerobic and strength training, as well as ongoing research into safe exercise protocols. Additionally, the use of assistive devices and orthotics, such as braces and mobility aids, is discussed, along with surgical interventions like scapular fixation surgery and corrective procedures for foot drop. Emerging therapeutic strategies, including gene therapy focusing on DUX4 silencing and CRISPR-Cas9 technology, were evaluated. The potential of antisense oligonucleotides and myostatin inhibitors was reviewed, along with the challenges and ethical considerations associated with cell-based therapies. We aimed to inform researchers and advance treatment strategies for FSHD patients.