Management of Charcot-Marie-Tooth Disease
The management of Charcot-Marie-Tooth (CMT) disease requires a comprehensive rehabilitation approach focused on maintaining mobility, strength, and function, as there are currently no effective disease-modifying therapies available. 1, 2
Rehabilitation Interventions
Exercise Therapy
- Implement aerobic exercise programs to improve general fitness and cardiovascular health 1
- Prescribe targeted strengthening exercises for affected muscle groups to maintain function and slow deterioration 3
- Include regular stretching exercises to maintain range of motion and prevent contractures 1
- Core stability training should be incorporated to improve balance and postural control 3
Orthotic Management
- Provide ankle-foot orthoses (AFOs) to improve gait stability and prevent falls in patients with distal weakness 1
- Custom-made footwear with appropriate support is essential to accommodate foot deformities such as pes cavus 1
- Consider upper extremity orthotic devices for patients with significant hand weakness to maintain function 1
Pain Management
- Address neuropathic pain with appropriate medications and non-pharmacological approaches 3, 4
- Manage muscle cramps which are common in CMT patients 3
- Monitor and treat fatigue, which significantly impacts quality of life 3
Rehabilitation Protocols
- Intensive rehabilitation programs (2-4 hours daily, 5 days per week, for 3 weeks) have shown significant short-term improvements in muscle strength, pain, fatigue, balance, and walking ability 3
- Regular maintenance therapy is necessary as benefits tend to diminish over time (improvements lost at 1-year follow-up) 3
- Balance training should be included to reduce fall risk 3
Surgical Interventions
- Consider surgical correction for progressive skeletal deformities that affect function or cause pain 4
- Surgical interventions may include tendon transfers, osteotomies, or arthrodesis for foot deformities 4
- Timing of surgical intervention is critical - typically reserved for cases where conservative management has failed 4
Emerging Therapies
- No FDA-approved disease-modifying treatments are currently available 5, 2
- Several approaches are under investigation:
- Gene therapy approaches targeting specific genetic defects (particularly for CMT1A) 5
- PXT3003 compound is in phase III clinical trials for CMT1A 5
- Gene silencing techniques (ASO, siRNA, CRISPR-Cas9) to counteract PMP22 gene overexpression 5
- Modulation of neuregulin pathway for both hypo-demyelinating and hypermyelinating neuropathies 2
- HDAC6 inhibitors to improve axonal transport 5
Multidisciplinary Care
- Regular follow-up with neurologists to monitor disease progression 2
- Involvement of physical and occupational therapists to maintain function 1, 3
- Consultation with orthotists for appropriate orthotic devices 1
- Psychological support to address the impact of chronic progressive disease 4
Common Pitfalls to Avoid
- Avoiding physical activity due to fear of exacerbation - moderate exercise is beneficial, not harmful 1, 3
- Delaying orthotic intervention until significant disability has developed 1
- Failing to address pain and fatigue, which significantly impact quality of life 3, 4
- Not providing regular rehabilitation maintenance, leading to loss of functional gains 3
- Using medications that may exacerbate neuropathy (certain antibiotics, chemotherapeutic agents) 4