What is the management approach for Marie Charcot tooth syndrome?

Management Approach for Charcot-Marie-Tooth Syndrome

The management of Charcot-Marie-Tooth syndrome requires a non-removable knee-high device to immobilize and offload the foot to promote disease remission and prevent progression of deformity.

Diagnosis and Assessment

Initial Evaluation

• Look for clinical signs of peripheral neuropathy:
  • Distal muscle weakness and wasting
  • Sensory loss in a "glove and stocking" distribution
  • Foot deformities (pes cavus, drop foot)
  • Digit contractures

Diagnostic Testing

• Perform plain X-rays of foot and ankle, including:

  • Anteroposterior (AP), medial oblique, and lateral projections
  • Standing (weight-bearing) radiographs when possible 1

• Magnetic Resonance Imaging (MRI) is essential when:

  • Plain X-rays appear normal but clinical suspicion remains high
  • Need to differentiate from other conditions like osteomyelitis 1

• If MRI is unavailable or contraindicated:

  • Consider nuclear imaging scan (scintigraphy)
  • CT scan or SPECT-CT as alternatives 1

Treatment Algorithm

1. Immobilization and Offloading

• First-line treatment: Total contact cast (TCC) - provides best immobilization and offloading 1
• Second-line treatment: Knee-high walker rendered non-removable 1
• Third-line treatment: Removable knee-high device (only if non-removable options are contraindicated or not tolerated) 1

2. Weight-Bearing Modifications

• Use assistive devices (crutches, walker) to reduce weight-bearing on affected limb 1
• Begin treatment as soon as possible once diagnosis is considered 1

3. Monitoring Disease Activity

• Measure skin temperature of affected vs. unaffected limb with serial examinations 1
• Do not rely on soft tissue edema alone to determine remission 1
• Consider all findings (temperature, clinical edema, imaging) when assessing remission 1

4. Prevention of Re-activation

• Once in remission, provide footwear/orthoses that accommodate and support foot shape 1
• For patients with deformity or joint instability, use below-the-knee customized devices for additional protection 1

What to Avoid

• Do not use below-ankle offloading devices (surgical shoes, postoperative sandals, custom molded shoes) as they provide inadequate immobilization 1

• Do not use pharmacological agents for treatment:

  • Avoid alendronate, pamidronate, zoledronate, calcitonin, PTH, or methylprednisolone 1
  • Avoid denosumab 1

Special Considerations

Surgical Intervention

• 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

Nutritional Support

• Evaluate need for vitamin D and calcium supplementation during fracture healing phase 1
• Follow national guidelines for supplementation in persons at risk of vitamin D deficiency 1

Complications to Monitor

• Progression to foot deformities
• Development of ulcers at pressure points
• Potential for infection at sites of sensory loss
• Re-activation of the disease process

Clinical Pitfalls to Avoid

1. Delayed diagnosis: CMT can be mistaken for other neuropathies - look for family history and characteristic foot deformities 2

2. Inadequate immobilization: Using below-ankle devices leads to treatment failure and disease progression 1

3. Overlooking cranial nerve involvement: Some patients may have cranial nerve abnormalities without corresponding symptoms 3

4. Failing to distinguish from diabetic Charcot: While management principles are similar, CMT is a genetic condition requiring long-term management strategies 1