What is the treatment for Charcot Marie Tooth (CMT) disease?

Treatment for Charcot-Marie-Tooth Disease

The treatment for Charcot-Marie-Tooth (CMT) disease primarily relies on rehabilitation, orthotic devices, and supportive care, as there are currently no approved disease-modifying therapies available to cure this condition. 1

Rehabilitation and Exercise

• Implement a comprehensive exercise program including:

  • Strengthening exercises
  • Stretching to maintain range of motion
  • Core stability training
  • Balance and resistance training
  • Aerobic exercises 1

• Avoid high-impact activities that may increase risk of foot trauma

• Consider low-impact alternatives:

  • Aquatic exercise
  • Cycle ergometry
  • Recumbent cycle ergometry 1

Orthotic Devices and Assistive Technology

• Provide footwear/orthoses that accommodate and support foot shape
• For patients with deformity or joint instability, use below-knee customized devices for additional protection 1
• Use assistive devices (crutches, walker) to reduce weight-bearing when necessary
• Avoid below-ankle offloading devices (surgical shoes, postoperative sandals) as they provide inadequate immobilization 1

Management of Foot Deformities

• For patients with bony deformities (hammertoes, prominent metatarsal heads, bunions):

  • Provide extra wide or deep shoes
  • For severe deformities that cannot be accommodated with commercial therapeutic footwear, custom-molded shoes are required 2

• When acute onset of red, hot, swollen foot occurs:

  • Use total contact cast (TCC) as first-line treatment
  • Knee-high walker rendered non-removable as second-line treatment
  • Removable knee-high device only if non-removable options are contraindicated 1

Monitoring and Prevention

• Regularly inspect feet for injuries, especially in areas with sensory loss

• Monitor skin temperature and restrict activity during periods of inflammation

• Perform regular assessment of:

  • Muscle strength
  • Balance
  • Functional capacity
  • Development of foot deformities and pressure points 1

• Educate patients with sensory loss to substitute other modalities (palpation or visual inspection using an unbreakable mirror) for surveillance of early foot problems 2

Surgical Management

• Consider surgical intervention when:
  • Foot/ankle joint instability is present
  • Deformity with high risk of developing ulcers exists
  • Pain cannot be adequately managed with conservative measures 1

Emerging Treatments

• Several experimental approaches are under investigation but not yet approved:
  • Gene therapy approaches (gene silencing, gene addition, gene editing) for specific CMT types 3, 4
  • PXT3003 compound for CMT1A (currently in phase III trials) 3
  • Modulation of neuregulin pathway for both hypo-demyelinating and hypermyelinating neuropathies 5
  • HDAC6 inhibitors to improve axonal transport 3
  • Ascorbic acid (vitamin C) supplementation has shown promise in animal models but requires clinical validation in humans 6

Important Considerations

• Distinguish CMT from diabetic Charcot neuropathy, as CMT is a genetic condition requiring long-term management strategies 1
• Be aware of potential complications:
  • Progression to foot deformities
  • Development of ulcers at pressure points
  • Potential for infection at sites of sensory loss 1
• Evaluate need for vitamin D and calcium supplementation during fracture healing phase 1

While research continues to advance toward potential disease-modifying therapies, the current management focuses on maintaining function, preventing complications, and improving quality of life through rehabilitation, appropriate orthotic devices, and surgical interventions when necessary.