What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is an inherited neurological disease with an incidence of 1 in 2000 individuals in Europe.

It is a pathology that affects the peripheral nerves, leading to a weakness of some muscles that ends up progressively deforming the feet and ankles.

Prognosis of the disease

As it is a progressive disease, it can severely affect up to one third of the cases, limiting in some cases mobility and autonomy.

Symptoms of Charcot-Marie-Tooth disease

It mainly affects the feet and ankles. However, the hands may also be affected.

It constitutes one of the most frequent causes of pes cavus of neurological origin, presenting the following signs:

  • Callosity in the lateral area of the feet.
  • Claw toes
  • Deformity of the ankles
  • Sprains
  • Repeated falls

Lack of strength in some foot muscles is accompanied by sensory deficits and a characteristic gait, forcing excessive lifting of the knees to avoid stumbling.

Medical tests for Charcot-Marie-Tooth disease

Electromyography and genetic analysis confirm the disease, but sometimes the disease cannot be confirmed, so it remains undiagnosed due to unknown genetic mutations.

What are the causes of Charcot-Marie-Tooth disease?

The origin of Charcot-Marie-Tooth disease is genetic, as it is a hereditary disease. In this sense, if you have a relative with this disease, it is important to investigate cases of pes cavus in the family.

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This genetic alteration affects the sheath (myelin sheath) of the peripheral nerves of some muscles, causing muscle weakness and lack of sensitivity in some areas of the foot.

Can it be prevented?

The disease itself cannot be prevented, except with genetic counseling. Foot involvement and deformity manifest differently from one individual to another, even in the same family.

However, with early treatment, severe deformities requiring more aggressive surgery can be prevented.

Treatments for Charcot-Marie-Tooth disease

To correct this disease, treatment is initiated with accommodative inserts and orthoses that will not change the course of the disease. For this reason, the rate of progression of the deformities must be monitored.

The current trend is to perform early surgical intervention to balance the forces that deform the foot and thus avoid severely deformed stiff feet that will require more mutilating surgeries in the future.

What specialist treats it?

The specialist in charge of the treatment of Charcot-Marie-Tooth disease is the expert in traumatology.