What is Charcot Marie Tooth disease?

Charcot Marie Tooth is a disease that affects the peripheral nerves, outside the central nervous system, especially arms and legs. It is characterized by being accompanied by muscle atrophy and motor and sensory nerve involvement. It usually appears between 10 and 20 years, but it can do it much later, in middle age.

An inherited disease

The cause of this disease is in a mutation which can affect different nerves so there are different types of this disease.

This mutation affects the genes that produce the structure-related proteins and the function of the axon of the peripheral nerve or its myelin layer. Can also be affected motor fibers (responsible for the movement) or sensitive fibers (responsible for sensitivity).

exist different inheritance patterns for Charcot Marie Tooth disease:

• When the pattern is dominant the parent's child will always be affected
• When inheritance is recessive the child can be healthy.
• On the other hand, we can find a spontaneous mutation so a sick child can be born to healthy parents and can pass on its mutation to the offspring.

How affects

The degeneration of motor nerves causes muscle weakness and atrophy in the arms, legs, hands, or feet (the extremities are the most frequently affected). In addition, the degeneration of the sensory nerves generates an alteration in the perception of the sensations of heat, cold, and pain.

The symptom more common of Charcot Marie Tooth disease are:

• Altered gait and / or balance
• Muscular atrophy,
• Paresthesia or tingling sensation.
• muscle contractions,
• Difficulty walking, frequent trips and falls,
• Deformities in the feet (hammer toes, increased plantar arch ...).

Symptoms usually begin in the lower extremities (feet) and subsequently affect the upper extremities (hands). Although, in the evolution of the disease they can be affected other muscles involved in breathing, swallowing or speaking, these functions are affected in advanced stages of the disease.

How is it diagnosed

A neurological examination It will show a motor difficulty to raise the foot when walking, an alteration of the osteotendinous reflexes, a muscular atrophy or atony, etc. Although these symptoms can be common to different pathologies, a genetic basis must be ruled out before their appearance.

If this disease is suspected, the doctor will order a battery of electrodiagnostic tests to assess nerve conduction and sensitivity.

To confirm the diagnosis of Charcot Marie Tooth disease, a peripheral nerve can be performed through a small incision in the skin. The sample will be examined under the microscope where the typical changes of alteration of the myelination or degeneration axonal that characterize this disease.

The natural history of the disease is slow and progressive worsening, which leads to the need to resort to: orthopedic surgery, rehabilitation, physiotherapist, pain clinic, etc.