Treatment Approach for Facioscapulohumeral Muscular Dystrophy (FSHD)
No pharmacological interventions are currently recommended for FSHD, as the evidence base does not support their use—unlike Duchenne muscular dystrophy where glucocorticoids have proven mortality and morbidity benefits. 1
Core Management Strategy
The treatment of FSHD centers on supportive care through physical therapy, exercise programs, assistive devices, and multidisciplinary monitoring, as no disease-modifying medications have demonstrated efficacy in high-quality randomized controlled trials. 1
Physical Therapy and Exercise Interventions
Exercise prescription must balance maintaining function against the risk of overwork weakness:
Submaximal aerobic exercise is preferred over excessive resistive exercise to avoid muscle damage in patients capable of voluntary movement. 2
Gentle strengthening within physiological limits should include 3 sets of 8-10 repetitions at 50-70% of 1 repetition maximum (1RM), with adequate rest periods incorporated to prevent excessive fatigue. 2
Focus on functional activities rather than isolated exercises, incorporating tasks that enhance self-care skills, mobility, and use of adaptive equipment. 2
Avoid excessive resistive and eccentric exercise, as these can worsen muscle damage and lead to overwork weakness. 2
Monitor cardiorespiratory response to activity, especially in supine position, to detect early signs of deterioration. 2
Assessment and Monitoring Schedule
Annual comprehensive assessments are recommended to track disease progression and adjust management strategies: 1
Manual muscle testing using standardized scales to quantify strength changes. 2
Timed functional tests including 10-meter walk, time to rise from chair, and 6-minute walk test every 4-6 months. 2
Range of motion assessment to identify emerging contractures requiring intervention. 2
Functional outcome measures assessing ability to perform daily activities. 2
Psychosocial evaluation to screen for depression, anxiety, and quality of life impacts. 1
Assistive Devices and Orthotic Management
Appropriate assistive technology with proper training should be provided for home, educational, and work environments: 2
Mobility aids such as manual or electric wheelchairs when ambulation becomes significantly impaired (approximately 20% of patients eventually require wheelchair use). 2, 3
Orthotic intervention to prevent contractures and deformity, particularly ankle-foot orthoses when ankle dorsiflexion weakness develops. 2
Adaptive equipment for activities of daily living to maintain independence. 2
Surgical Considerations
For select patients with specific complications:
Scapular fixation surgery may be considered in patients with severe scapular winging causing functional impairment, though evidence for efficacy is limited. 4
Corrective procedures for foot drop when orthotic management is insufficient. 4
Respiratory Management
While less common than in Duchenne muscular dystrophy, respiratory complications can occur in severe FSHD:
Monitor for sleep-disordered breathing and nocturnal hypoventilation in advanced disease. 5
Consider noninvasive nocturnal ventilation if polysomnography demonstrates chronic respiratory insufficiency. 5
Do not use supplemental oxygen alone to treat hypoventilation without ventilatory support, as this can worsen hypercapnia. 5
Common Pitfalls to Avoid
Excessive exercise intensity can cause irreversible muscle damage through overwork weakness—err on the side of submaximal training. 2
Disuse atrophy from insufficient activity is equally problematic—maintain regular gentle exercise programs. 2
Delaying assistive device prescription out of concern for patient acceptance can lead to falls and further injury—introduce mobility aids proactively. 2
Inadequate monitoring of cardiorespiratory response during exercise can miss early signs of cardiac or respiratory involvement. 2
Emerging Therapies (Not Yet Recommended for Clinical Use)
While not currently part of standard care, several experimental approaches are under investigation:
Gene therapy targeting DUX4 silencing using antisense oligonucleotides and CRISPR-Cas9 technology. 4, 6
Myostatin inhibitors to promote muscle growth. 4
Cell-based therapies, though significant challenges and ethical considerations remain. 4
These approaches remain investigational and should only be accessed through clinical trials until safety and efficacy are established. 7