From the Guidelines
Charcot-Marie-Tooth disease (CMT) treatment should prioritize symptom management and maintaining function, with a focus on physical therapy, occupational therapy, and orthotic devices to improve mobility and prevent complications, as recommended by recent guidelines 1.
Overview of Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is an inherited neurological disorder that affects the peripheral nerves, causing muscle weakness, atrophy, and sensory loss primarily in the feet, legs, hands, and arms. The disease results from mutations in genes responsible for the structure and function of peripheral nerves, leading to demyelination or axonal degeneration.
Treatment Approach
The treatment approach for CMT focuses on managing symptoms and maintaining function, as there is currently no cure for the disease. The cornerstone of treatment is physical therapy, which helps to preserve muscle strength, improve balance, and prevent contractures. Occupational therapy assists patients with adaptive techniques for daily activities, improving their quality of life.
Orthotic Devices and Pain Management
Orthotic devices, such as ankle-foot orthoses (AFOs) or custom foot inserts, provide stability and improve mobility. Pain management may include medications like gabapentin, pregabalin, or duloxetine for neuropathic pain. Some patients benefit from low-dose tricyclic antidepressants like amitriptyline (10-25 mg at bedtime).
Surgical Interventions
Surgical interventions may be necessary in advanced cases, including procedures to correct foot deformities or release tight tendons. According to recent guidelines, surgical intervention should be considered in patients with active Charcot neuro-osteoarthropathy and intact skin, who have instability of foot and ankle joints, and/or deformity with a high-risk of developing ulcer in the offloading device, or pain that cannot be sufficiently stabilized in a total contact cast or a non-removable knee-high device 1.
Footwear and Orthoses
Footwear and/or orthoses that best accommodate and support the shape of the foot/feet and ankle are recommended to help prevent re-activation of Charcot neuro-osteoarthropathy (CNO) in patients with diabetes mellitus, intact skin, treated for active CNO with an off-loading device and who are now in remission 1. Below-knee customized devices should be used for additional protection in patients with deformity and/or joint instability to optimize plantar pressure distribution.
Regular Monitoring
Regular monitoring by a neurologist is essential, typically every 6-12 months, to assess disease progression and adjust treatment plans. Genetic counseling is important for family planning, and patients should be evaluated for the need for vitamin D and calcium supplementation during the phase of fracture healing, in doses according to national guidelines on supplementation in persons at risk of vitamin D deficiency and/or those with insufficient calcium intake 1.
From the Research
Charcot-Marie-Tooth Disease Overview
- Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans 2.
- It is a hereditary sensorimotor neuropathy with a slow onset, typically presenting in childhood and starting distally in the lower limbs before progressing to more proximal muscles 3.
- CMT exhibits a wide phenotypic range, genetic heterogeneity, and a variable disease course 4.
Treatment Options
- Currently, there are no approved disease management methods that can fully cure patients with CMT, and rehabilitation, orthotics, and surgery are the only available treatments to ameliorate symptoms 4.
- Rehabilitation approaches, including aerobic, stretching, and strengthening exercises, play a major role in treatment 3.
- Orthotics is another important part of treatment, with orthotic devices being used to maintain mobility, ambulation, and upper extremity function 3.
- Occupational therapy services can also be beneficial for individuals with CMT, although they are not being well utilized for this population 5.
Multidisciplinary Approach
- The optimal management of CMT patients includes a multidisciplinary approach, involving genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources 2.
- A clinical practice guideline for the management of pediatric CMT has been developed, providing evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT 6.
- This guideline includes recommendations for the management of common clinical problems experienced by children with CMT, such as muscle weakness, balance and mobility impairment, and sensory symptoms 6.
Future Directions
- Considerable research attention has been given to disease-modifying therapies, including gene silencing, gene addition, and gene editing, although most treatments that reach clinical trials are drug treatments 4.
- Gene therapies for CMT2S have reached the clinical trial stage, and promising therapeutic approaches are being discussed 4.
- Further research is necessary to address the unmet needs in CMT management and to develop effective treatments for this incurable disease 4, 5, 6.