The Charcot-Marie-Tooth disease can be divided into different types:

1. CMT1: Damage to the myelin sheath (the protective covering of the nerves), leading to slower nerve conduction.
2. CMT2: Impairment of the axon (the inner nerve fiber), where nerve conduction remains normal, but the signal strength is reduced.
3. CMTX: X-linked form, primarily affecting men.
4. Rare forms: Variants with specific genetic mutations that can cause different symptoms. 

The main causes of CMT lie in genetic mutations that impair the function of peripheral nerves:

• Genetic defects:
  • Mutations in genes responsible for the structure and function of myelin or axons.
• Inheritance patterns:
  • Mostly autosomal dominant, less commonly autosomal recessive or X-linked.
• Changes in nerve structure:
  • Degradation of myelin or damage to axons, which hinders signal transmission between the brain, spinal cord, and muscles.

The symptoms vary depending on the type and severity, but typically include:

- **Muscle weakness:**

- Often begins in the feet and lower legs, leading to difficulties in walking and may later affect hands and forearms.

- **Loss of sensation:**

- Reduced sensitivity to pain, temperature, and touch in the affected extremities.

- **Foot deformities:**

- Typical misalignments such as high arches (pes cavus) or claw toes.

- **Gait disturbances:**

- Unsteady gait or stumbling due to weakness in the lower extremities.

- **Cramps and pain:**

- Especially after prolonged exertion or activity.

- **Progressive disabilities:**

- In advanced stages, affected individuals may rely on walking aids or wheelchairs.

The diagnosis of CMT is made through a combination of medical history, clinical examination, and special tests:

• Medical history: The doctor inquires about family history and symptoms such as muscle weakness or sensory disturbances.
• Physical examination: Checking for typical deformities and reflexes as well as assessing muscle strength.
• Electrophysiological examinations:
  • Electroneurography (ENG): Measurement of nerve conduction velocity to assess myelin or axonal damage.
• Genetic tests:
  • Identification of specific mutations to confirm the diagnosis.
• Imaging techniques:
  • MRI: To visualize muscle atrophy or structural changes.

Conservative Therapy

Since CMT is not curable, the treatment aims to alleviate symptoms and slow down progression:

• Physiotherapy:
  • Exercises to strengthen muscles, improve mobility, and maintain functionality.
• Orthopedic Aids:
  • Use of braces, insoles, or orthopedic shoes to correct deformities and support mobility.
• Pain Therapy:
  • Use of medications to relieve neuropathic pain and muscle cramps.
• Occupational Therapy:
  • Promotion of hand function and support in daily activities.

Surgical Therapy

In severe cases, surgery may be necessary:

• Correction of Foot Deformities: Surgical procedures to improve foot positioning and gait.
• Tendon Transfer: Transfer of weakened or missing muscle functions to other muscles.

To prevent or alleviate symptoms of CMT, the following measures are recommended:

1. Early diagnosis: Regular check-ups and genetic tests in cases of family history.

2. Physical activity: Targeted exercises to prevent muscle wasting and contractures.

3. Ergonomic adjustments: Use of aids to protect joints and muscles.

4. Protection of extremities: Avoiding injuries that could accelerate the progression of symptoms.

5. Psychological support: Guidance from professionals to cope with the emotional burdens of the disease.