Charcot-Marie-Tuta Disease


The characteristic features of pathology were described at the end of the 19th century by three doctors: the French, Jean-Martin Charcot, Pierre Marie, and the Englishman, Howard Henry Tout. In their honor, and the name appeared – Charcot-Marie-Tut disease.

Used synonyms – hereditary motor-sensory neuropathy, neural amyotrophy. Pathology is associated with effects on peripheral nerves, resulting in the destruction of the myelin sheath or the long processes of the axon nerves.

It is believed that with this disease there is no damage to the central . However, there is evidence that the destruction affects the roots of the spinal cord, conduction paths.

Due to a violation of the conductivity of the nerve fibers located on the periphery, the muscle tissues of the extremities atrophy. Gradually, they are replaced by connective and adipose tissues.

Symptoms of Charcot-Marie-Tuta disease are diagnosed most often in and young people from ten to twenty years old.

Charcot-Marie-Tuta Disease

The reasons

Nerve impulses are transmitted along the long processes of neurons – axons. They are wrapped in myelin sheath. Oligodendrocytes take part in its creation. In the case of the Charcot-Marie-Tuta pathology, a mutation occurs in the MFN2 gene. In his area of ​​responsibility – the production of mitochondral protein. Mutation leads to the formation of condensations of mitochondria in the body of the axon.

Probably, the disease is also caused by the influence of genes on the immune system of the body. As a result, proteins of the myelin leaf begin to be perceived as characteristic of pathological bacteria. The immune system is activated, antibodies are formed, they penetrate the hemato-encephalic barrier and infect protein components.

Due to the impact of some genes, excessive myelination of nerve cells occurs, which also disrupts the passage of nerve impulses.

In the pathogenesis of Charcot-Marie-Tut syndrome, thus, there are 2 forms:

  1. Caused by the destruction of the myelin sheath. It is diagnosed in about 80% of cases.
  2. At the heart of the second is the defeat of axons. It is much less common.

The transfer of pathology is carried out predominantly by an autosomal dominant route, i.e. the child receives it from one of the parents. In some cases, there is a recessive transmission – both parents are carriers of pathological genes, and two gene copies are needed for the development of the disease.

Rarely there is a gene mutation in one person, not associated with hereditary factors. The exact causes of the pathology are still unknown.


Charcot’s syndrome leads to damage to the motor and sensory nerves. The destruction of motor pathways is accompanied by weakness and numbness of the muscle tissue of both feet, a rapid increase in fatigue. Somewhat later, pain in the calf muscles joins. They develop mainly after a long walk, standing in one place.

During the inspection revealed atrophy of the muscle fibers of the legs. Oppressed tendon reflexes.

Weakness of muscles and reflexes leads to gait disturbance. A man falls, wiggles when walking. Atrophy of small muscle fibers causes a change in the shape of the foot – the arch increases. There is deformation of the fingers. To a lesser extent large, fingers following him are more. They bend, begin to resemble claws.

A person loses the ability to walk on heels. When forced to stand for a long time, he is forced to shift and stomp in order to calm discomfort.

The defeat of the gastrocnemius muscles leads to deformation of the lower leg – they begin to resemble the legs of a stork or an upturned bottle. Weakening creates the effect of a dangling foot.

On average, in 10-15 years atrophy of the muscular tissue of the hands begins. Drops motility falls out. First distal zones are hit. The brush begins to resemble a monkey’s paw. Body, neck, shoulders remain intact.

Charcot-Marie-Tut’s neural amyotrophy is accompanied by other signs. Among them:

  1. Spinal deformity. Despite the fact that the peripheral nerves of the body are not damaged, many patients have scoliosis, kyphosis.
  2. Lack of reflexes of the legs and hands.
  3. Loss of sensation It seems to a person that they put a sock on their legs and a glove on their hands. With severe pathology, the sensations suffer so much that a person does not feel heat, pain. More often marked sensations of burning, numbness, tingling.
  4. Cold limbs. In the affected areas there is a violation of the blood supply.
  5. Convulsive phenomena. Motor disorders sometimes cause twitching of the lower extremities. This symptom is intensified after a long load on the legs, at night.
  6. Skin change. Cyanosis, puffiness is noted.
  7. Osteoporosis.

If the onset of the disease refers to the age of up to 5 years, the patient with the time increases violations in the work of the respiratory organs, internal organs, reduced vision, hearing.

The pathology of Charcot-Marie-Tuta is a slowly progressive muscular atrophy. Suffering from this form of neuropathy for a long time remain functional. Strengthening of symptoms is caused by injuries of the spine and head, infectious viral and bacterial diseases.


Confirmation of the diagnosis of Charcot-Marie-Tut syndrome is primarily related to the analysis of neurological symptoms. Muscular strength, tendon reflexes, sensory preservation, tremor are checked. At the reception is checked deformation of the foot, lower leg, hand, spine. The neurologist is required to clarify the history of the onset of symptoms, the presence of signs of illness in the family.

Instrumental research methods are assigned: electroneurography and electromyography. In the first case, it is measured at what speed the pulses pass. In the second, the bioelectric activity of muscle tissues is assessed, the degree of disturbance of the peripheral system is specified.

Performing DNA analysis. A negative result does not yet confirm the absence of Charcot-Marie-Tut disease, since not all the genetic parameters of the disease are currently known. Conducting genetic examination is important when planning a pregnancy.

If it is impossible to distinguish the syndrome from other neuropathies, a sample of muscle and nerve tissue is taken.


The treatment methods for the Charcot-Marie-Tuta pathology are associated with the alleviation and reduction of symptoms. They include the use of drugs, physiotherapy and surgery.


Drug therapy includes drugs aimed at improving metabolism (sodium adenosine triphosphate), microcirculation (Pentoxifylline), neuromuscular transmission (Galantamine).

Assigned to vitamin E, preparations containing calcium.


In the case of Charcot-Marie-Tuta amyotrophy, the use of physiotherapeutic methods is shown. Massage, balneotherapy, electrostimulation, mud therapy, therapeutic baths, hydro massage are used.

For symptoms associated with impaired sensitivity, electrophoresis and galvanization are used with caution. If sensory nerves are not affected, electrophoresis is carried out with calcium and anticholinesterase preparations. 

The main objectives of physiotherapy treatment of Charcot-Marie-Tuta disease:

  • activation of metabolism;
  • decrease in dystrophy;
  • improved blood circulation;
  • activation of the neuro-muscular system;
  • normalization of psycho-emotional state.


The main purpose of surgery for pathology of Charcot-Marie Tuta is to prevent deformity of the foot. However, prior to the operation, a thorough assessment of possible negative consequences is made. Anesthesia has a negative effect on the course of the disease. After the operation, the restriction of rehabilitation measures is shown.


Amiotrophy Charcot-Marie-Tuta, like other genetic diseases, can not be prevented. However, in the strength of the patient, his parents, if the patient is a child, alleviate the suffering and eliminate serious complications.

Patients are advised to wear fixing bandages that are designed to prevent muscle and ligamentous structures from stretching. Wearing high shoes is shown to support weakening ankles.

Prognosis and complications

Neural amyotrophy of Charcot-Marie-Tuta is characterized by a slowly progressive course. In case of severe damage to patients, loss of the ability to move without supporting devices, wheelchairs is waiting. Hand dysfunction is accompanied by loss of self-care.

Common complications include sprains, fractures, sprains. The disease does not shorten life expectancy.

The development of amyotrophy of Charcot-Marie-Tuta is determined by hereditary factors that are not yet fully understood. By virtue of this possibility to choose a treatment that would stop its course and development, does not exist. However, the use of symptomatic treatment, physiotherapy, orthopedic devices can reduce the manifestation of symptoms.

Related Posts

Constant cramps in the arms and legs – a dangerous symptom or innocuous overstrain
Constant cramps in the arms and legs – a dangerous symptom or innocuous overstrain

The cause of muscle spasm can be anything from physical overstrain to the presence of a malignant tumor. If involuntary muscular contractions recur frequently, consult […]

What is occipital nerve neuralgia and what treatment methods are used to treat it
What is occipital nerve neuralgia and what treatment methods are used to treat it

There are many types of neuralgia. Each has its own characteristics. One of the most difficult diseases is neuritis of the occipital nerve. It has many symptoms and can […]

Verdniga-Hoffman spinal amyotrophy: symptoms, types, diagnosis and prognosis of survival
Verdniga-Hoffman spinal amyotrophy: symptoms, types, diagnosis and prognosis of survival

It is terrible to know that the baby will never sit, stand, run. It is even more frightening to see how a normally growing and developing child suddenly begins to fade […]

Where is the sciatic nerve, why is it infringed and how to treat sciatica at home
Where is the sciatic nerve, why is it infringed and how to treat sciatica at home

With displacement of the vertebrae, osteochondrosis, bruises, fractures, various diseases, nerve infringement is often observed followed by - sciatica. In […]