Treatment for Facioscapulohumeral Muscular Dystrophy (FSHD)
There is currently no pharmacological treatment proven effective for FSHD, and management relies entirely on supportive care including physical therapy, orthotic devices, and multidisciplinary monitoring to maintain function and prevent complications. 1, 2
Evidence Base for Pharmacological Interventions
The evidence for drug treatment in FSHD is notably weak and disappointing:
No medications are recommended - Two high-quality randomized controlled trials have been completed, one testing creatine supplementation and another testing albuterol (salbutamol), and neither demonstrated significant benefit on the primary outcome of muscle strength at one year. 1
Creatine showed non-significant trends favoring treatment but failed to reach statistical significance for meaningful clinical benefit. 1
Albuterol trials showed no significant difference in muscle strength at one year, though some secondary measures like lean body mass and handgrip strength showed modest improvement. 1
Corticosteroids are not beneficial - Early suggestions that corticosteroids might help were not supported by subsequent open-label studies. 1
This stands in stark contrast to Duchenne muscular dystrophy, where glucocorticoids have proven mortality and morbidity benefits. The evidence base for FSHD is fundamentally different and does not support pharmacological intervention. 3, 4, 1
Supportive Management Strategies
Physical Therapy and Rehabilitation
Regular physical therapy is the cornerstone of management to maintain function, prevent contractures, and improve mobility. 2, 5
Aerobic exercise training (AET) may reduce chronic fatigue - A trial protocol suggests AET could improve physical capacity in FSHD patients with severe chronic fatigue, though definitive results require completion of ongoing studies. 6
Cognitive behavioral therapy (CBT) is being investigated to help patients maintain an active lifestyle while avoiding excessive physical strain that could worsen muscle damage. 6
Orthotic Devices and Assistive Equipment
Orthotic devices should be prescribed based on specific deficiencies and contractures to aid function and mobility. 2, 5
Assistive devices may be needed as the disease progresses, particularly for patients who develop significant lower extremity weakness. 5
Multidisciplinary Monitoring Schedule
Annual comprehensive assessments are recommended to evaluate disease severity and the physical, social, and psychological impact of symptoms. 5
Each assessment should include:
- Functional evaluation of muscle strength and mobility 5
- Physical therapy assessment for contractures and range of motion 5
- Evaluation of need for orthotic devices or assistive equipment 5
- Screening for respiratory complications (though less common than in other muscular dystrophies) 5
- Psychosocial assessment given the progressive nature and variable severity 5
Genetic Counseling
Genetic counseling is essential given the autosomal dominant inheritance pattern, with approximately 50% risk of transmission to offspring. 5
Genetic testing confirms diagnosis by identifying deletion of D4Z4 repeats on chromosome 4q35. 5
Disease-Specific Considerations
Natural History and Prognosis
Disease onset typically occurs before age 20 years with facial involvement followed by shoulder girdle, humeral muscles, abdominal muscles, and anterolateral leg compartment. 5
Progression is characteristically slow with high variability in severity between patients. 5
Approximately 20% of patients become wheelchair-dependent, but lifespan is not shortened. 5
Asymmetric and selective muscle involvement distinguishes FSHD from other muscular dystrophies. 5
Critical Pitfalls to Avoid
Do not prescribe glucocorticoids - Unlike Duchenne muscular dystrophy where steroids are first-line therapy, there is no evidence supporting their use in FSHD and early studies were negative. 1
Avoid excessive physical strain during exercise programs, as overwork weakness is a concern in muscular dystrophies. 6
Do not assume rapid progression - FSHD progresses very slowly compared to other dystrophies, and management should reflect this timeline. 5
Do not overlook psychosocial impact - The visible facial involvement and variable progression create unique psychological challenges requiring regular assessment. 5