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ABC Medical Center > Charcot-Marie-Tooth disease

What is Charcot-Marie-Tooth disease?

19:01 - 5 December , 2023

Disease

It is an inherited genetic neuropathy that affects the peripheral nerves, which are responsible for transmitting movement and sensation signals between the brain, spinal cord, and the rest of the body.

Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy, as it is also known, appears when alterations occur in the genes that damage the nerves of the arms, hands, legs, and feet, as well as the protective covering of the nerve, called myelin sheath.

If a direct family member suffered from Charcot-Marie-Tooth disease, you could likely develop it.

However, other factors can also contribute to its appearance, such as the presence of other neuropathies, having diabetes, or taking some medications to control chemotherapy effects.

Charcot-Marie-Tooth disease usually occurs in adolescence or early adulthood, although it can also occur during middle age.

Signs and symptoms Charcot-Marie-Tooth disease

The symptoms evolve slowly and begin in the feet and legs:

  • Elevation of the arch of the feet.
  • Frequent falls.
  • Weakened legs, feet, and ankles.
  • Hammer toes.
  • Lack of sensitivity in legs and feet.
  • Problems running.
  • Ungainly movement or walking with knees elevated.
  • Decrease in muscle mass in legs and feet.
  • Problems flexing the heel.

Charcot-Marie-Tooth disease risks and complications:

  • Foot conditions.
  • Muscle weakness.
  • Difficulty walking.
  • Injuries to legs, feet, arms, and hands.
  • Problems breathing, swallowing, and speaking.

Diagnosis and treatment Charcot-Marie-Tooth disease

Once the specialist analyzes your symptoms and clinical history, they will perform a physical examination and request the following tests to assess the severity of the nerve injury and its possible cause:

  • Nerve biopsy.
  • Genetic testing.
  • Electromyography.
  • Nerve conduction tests.

Treatment involves helping to control the symptoms of Charcot-Marie-Tooth disease through:

  • Painkillers.
  • Physiotherapy.
  • Occupational therapy.
  • Use of orthopedic devices.
  • Corrective surgery to improve the ability to walk.

At the Neurology Center, a group of highly trained and certified doctors in various neurological specialties are prepared to serve you with the quality and warmth that sets us apart.

Related centers and departments

Neurology Center
High Specialty Surgery Center
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • neurology.com
  • svneurologia.org
  • elsevier.es
  • stanfordchildrens.org
  • healthychildren.org
  • topdoctors.es
  • medlineplus.gov
  • msdmanuals.com
  • medigraphic.com
  • Duarte-Martínez MC, Peñaherrera-Oviedo CA. Enfermedad de Charcot-Marie-Tooth. Rev Mex Neuroci. 2015;16(6):54-62.
  • Vidal PT, Ragolta MK, Jhones CHA, et al. Enfermedad de Charcot Marie Tooth en un niño. MediSan. 2012;16(11):1791-1796.
  • Orozco-Villaseñor S, Mayagoitia-Vázquez J, Miguel-Andrés I, et al. Factores de riesgo asociados a patologías musculoesqueléticas en deportistas con pie cavo anterior a través de estudios de baropodometría. Acta Ortop Mex. 2021 Jul-Ago;35(4):317-321. doi:10.35366/103310.

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