Are behavioral or exercise-based therapies, including non-speech oromotor training, effective and safe for individuals with facioscapulohumeral dystrophy (FSHD)?

Behavioral and Exercise-Based Therapies for FSHD

Both aerobic exercise training (AET) and cognitive-behavioral therapy (CBT) are effective and safe interventions that significantly reduce chronic fatigue in patients with facioscapulohumeral dystrophy, with benefits maintained at follow-up, and there is no evidence of harm from appropriately designed exercise programs in this population. 1

Evidence for Behavioral and Exercise Therapies

Aerobic Exercise Training

• A randomized controlled trial demonstrated that AET reduced fatigue severity by 9.1 points (95% CI -12.4 to -5.8) immediately post-treatment, with sustained benefits of 8.2 points (95% CI -12.4 to -5.8) at 12-week follow-up in FSHD patients with severe chronic fatigue. 1
• AET increased registered physical activity levels in FSHD patients, though improvements in experienced physical activity and social participation were not as robust as with CBT. 1
• The theoretical model supporting AET in FSHD posits that loss of muscle strength contributes to chronic fatigue through decreased physical activity, creating a deconditioning cycle that can be interrupted through structured aerobic training. 2

Cognitive-Behavioral Therapy

• CBT demonstrated even greater fatigue reduction than AET, with a difference of -13.3 points (95% CI -16.5 to -10.2) post-treatment and -10.2 points (95% CI -14.0 to -6.3) at follow-up. 1
• CBT produced broader functional improvements beyond fatigue reduction, including increases in both registered and experienced physical activity, improved sleep quality, and enhanced social participation—benefits that persisted through follow-up. 1
• CBT helps patients manage the unpredictable nature of fatigue in FSHD by addressing fear of becoming tired, teaching pacing strategies, and helping patients distinguish between physical overachieving and underachieving. 3

Multidisciplinary Management Approach

• Multidisciplinary management combining genetic counseling, functional assessment, physical therapy evaluation, and symptomatic treatment is recommended for FSHD, with yearly assessments to monitor disease progression. 4
• Physical therapy sessions and orthopedic appliances should be adapted to individual deficiencies and contractures, recognizing the progressive, asymmetric nature of FSHD muscle involvement. 4
• Management strategies should address the significant impact of fatigue on quality of life and participation, as patients describe fatigue as "overwhelming and unpredictable" with substantial effects on social contacts and daily functioning. 3

Non-Speech Oromotor Training

Non-speech oromotor training is NOT recommended for FSHD or most neurological populations, as the available evidence does not support its effectiveness and it diverts resources from evidence-based interventions.

Evidence Against Non-Speech Oromotor Training

• The ESPEN guideline on clinical nutrition in neurology emphasizes that behavioral swallowing therapies should focus on functional swallowing tasks rather than isolated oral motor exercises. 5
• Effective interventions for oropharyngeal dysfunction include the Shaker head lift for upper esophageal sphincter dysfunction (Grade A recommendation) and expiratory muscle strength training (EMST) for motor-neuron disorders and Parkinson's disease—both of which are functional, task-specific exercises rather than non-speech oromotor drills. 5
• The consensus recommendations for functional neurological disorders emphasize that therapy should focus on regaining voluntary control through functional, meaningful activities rather than isolated motor exercises divorced from functional context. 5

Why Non-Speech Oromotor Training Lacks Support

• Non-speech oromotor exercises (such as tongue strengthening exercises, lip exercises, or oral posturing without swallowing) lack evidence for transfer to functional speech or swallowing tasks. 5
• The principle of specificity in motor learning indicates that improvements are task-specific—practicing non-functional movements does not reliably improve functional performance. 5
• Resources are better allocated to evidence-based interventions like systematic swallowing therapy using individualized functional exercises (Grade B recommendation). 5

Safety and Potential Harms

Safety of Exercise in FSHD

• The randomized controlled trial of AET and CBT in FSHD reported no adverse events or disease exacerbation, demonstrating that appropriately designed exercise programs are safe in this population. 1
• The progressive pattern of FSHD requires regular assessment (yearly recommended) to adapt interventions to changing functional status and prevent complications. 4
• Exercise prescription should be adapted to individual deficiencies, with attention to the asymmetric and selective pattern of muscle involvement characteristic of FSHD. 4

Potential Risks of Inappropriate Exercise

• Physical overachieving can contribute to fatigue in FSHD patients, highlighting the importance of structured, supervised programs rather than unguided exercise. 3
• Patients with FSHD often struggle to identify the causes of their fatigue, making professional guidance essential to avoid both overexertion and deconditioning. 3
• The unpredictable nature of fatigue in FSHD means that exercise programs must include strategies for pacing and adaptation to fluctuating symptoms. 3

Clinical Implementation

Starting Exercise Programs

• Begin with a comprehensive assessment of muscle strength, fatigue severity (using validated tools like the Checklist Individual Strength), and functional limitations. 2, 1
• AET programs should be structured over 16 weeks with gradual progression, as this duration demonstrated efficacy in the RCT. 1
• Consider CBT as the first-line intervention when fatigue is accompanied by fear of activity, poor sleep quality, or reduced social participation, given its broader range of benefits. 1

Monitoring and Adjustment

• Reassess fatigue levels and functional outcomes at treatment completion (16 weeks) and at follow-up intervals to ensure sustained benefits. 1
• Adjust physical therapy prescriptions based on evolving deficiencies and contractures, recognizing that FSHD progression is slow but variable. 4
• Address both the physical and psychological aspects of fatigue, as patients experience both actual fatigue and fear of becoming tired. 3

Common Pitfalls to Avoid

• Do not prescribe non-speech oromotor exercises for speech or swallowing problems in FSHD—focus on functional, task-specific interventions instead. 5
• Avoid dismissing fatigue as merely a psychological symptom; it has a physiological basis related to muscle weakness and deconditioning that responds to structured intervention. 2, 1
• Do not implement exercise programs without considering the patient's fear of overexertion and need for pacing strategies, as this can lead to poor adherence. 3