From the Research
Management of Charcot-Marie-Tooth disease (CMT) primarily focuses on supportive care and symptom management as there is currently no cure for this hereditary peripheral neuropathy. Treatment begins with a multidisciplinary approach involving neurologists, physical therapists, occupational therapists, and orthopedic specialists.
Key Components of Management
- Physical therapy is essential to maintain muscle strength, prevent contractures, and improve balance and coordination.
- Ankle-foot orthoses (AFOs) or other orthotic devices are commonly prescribed to provide stability and prevent falls by compensating for foot drop and ankle weakness.
- For pain management, medications such as gabapentin (starting at 300mg daily, gradually increasing to 300-600mg three times daily), pregabalin (75-150mg twice daily), or amitriptyline (10-25mg at bedtime) may be used to address neuropathic pain, as suggested by 1.
Rehabilitation and Orthotics
- Rehabilitation plays a major role in treatment, with aerobic, stretching, and strengthening exercises being effective in improving strength and general fitness, as shown in 2.
- Orthotic devices are the mainstay of maintaining mobility and ambulation and upper extremity function.
Genetic Counseling and Avoidance of Neurotoxic Medications
- Genetic counseling should be offered to patients and families to understand inheritance patterns and risks for future generations.
- Patients should avoid neurotoxic medications like vincristine, cisplatin, and high doses of vitamin A, which can worsen neuropathy, as noted in 3.
Individualized Approach
- The management approach needs to be individualized based on the specific CMT subtype, disease progression, and the patient's unique symptoms, as CMT encompasses a heterogeneous group of disorders with varying clinical presentations and genetic causes, as discussed in 4 and 5.
Monitoring and Surgical Intervention
- Regular monitoring for complications like progressive deformities (pes cavus, hammer toes) is important, with surgical intervention considered for severe cases that affect mobility or cause pain.
- Weight management and maintaining overall health are also important as obesity can exacerbate mobility issues.