Management of Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) disease requires a multidisciplinary rehabilitation-focused approach, as there are currently no effective curative medical or surgical treatments available. 1, 2, 3
Core Management Strategy
The foundation of CMT management centers on preserving function and quality of life through coordinated supportive care, not pharmacologic intervention. 1, 4
Essential Team Members
A comprehensive care team should include: 1
- Neurologists for diagnosis and disease monitoring
- Physical and occupational therapists for functional training
- Physiatrists for rehabilitation coordination
- Orthotists for bracing and assistive devices
- Genetic counselors for family planning and inheritance counseling
- Mental health providers for psychological support
Rehabilitation Interventions
Exercise Programs
Implement structured exercise protocols including aerobic training, strengthening exercises, stretching, core stability work, balance training, and resistance training. 4, 5
- Aerobic exercise improves general fitness and cardiovascular health 4
- Strengthening exercises target both distal and proximal muscle groups to maintain functional strength 4, 5
- Stretching programs help maintain range of motion, though evidence shows only moderate effectiveness 4
- Balance and core stability training address gait impairment and fall risk 5
Intensity and Duration
Intensive rehabilitation (2-4 hours daily, 5 days per week for 3 weeks) produces significant short-term improvements in muscle strength, balance, walking speed, and functional ability. 5 However, these gains are lost at 1-year follow-up, indicating the need for ongoing maintenance programs rather than isolated intensive courses. 5
Orthotic Management
Orthotic devices are the mainstay of maintaining mobility, ambulation, and upper extremity function in CMT patients. 4
- Ankle-foot orthoses (AFOs) should be prescribed early to prevent foot drop and maintain gait efficiency 4
- Custom footwear with specialized insoles provides ongoing offloading and prevents skin breakdown 6
- Upper extremity orthotics may be needed for hand weakness and fine motor impairment 4
Early implementation of orthotic interventions prevents progression of deformities such as pes cavus and contractures. 6
Symptom Management
Address specific symptoms systematically: 1, 5
- Pain management through appropriate analgesics and physical modalities
- Fatigue treatment with energy conservation strategies and pacing techniques
- Cramp management with stretching and possible pharmacologic intervention
Monitoring and Follow-Up
Regular clinical assessment is essential to track disease progression and adjust interventions. 1
- Use standardized clinical instruments to assess disease progression and disability 1
- Implement patient-reported outcome measures to capture quality of life impacts 1
- Monitor for development of skeletal deformities requiring surgical consultation 1, 3
Critical Pitfalls to Avoid
Delayed diagnosis and referral to multidisciplinary care leads to significant clinical deterioration. 6 Early recognition of CMT symptoms—including distal weakness starting in childhood, pes cavus, loss of deep tendon reflexes, and distal sensory loss—should trigger immediate referral. 5
Do not rely on isolated intensive rehabilitation courses without maintenance programs, as functional gains are not sustained long-term. 5 Instead, establish ongoing therapy schedules with periodic intensive sessions.
Avoid delaying orthotic interventions until severe deformity develops, as early bracing prevents progression and maintains function. 6, 4
Emerging Therapies
While gene therapy, gene silencing approaches (ASO, siRNA, CRISPR-Cas9), and novel compounds targeting specific pathways (neuregulin modulation, HDAC6 inhibitors, UPR modulators) are under investigation, none have reached the stage of clinical availability for routine use. 2, 3 PXT3003 is in phase III trials for CMT1A but remains investigational. 3
Current management must focus entirely on rehabilitation and supportive care until disease-modifying therapies become available. 2, 3