Amyotrophy neural Charcot-Marie (peroneal muscular atrophy). Methods of treatment and signs of Charcot marijut disease, neural amyotrophy

Amyotrophy neural Charcot-Marie (peroneal muscular atrophy) has the character of slow progression.

The disease is based on atrophy of muscle fibers in the distal legs.

It belongs to the category of diseases with a genetic predisposition. It is inherited mostly in an autosomal dominant manner and less commonly in an autosomal recessive manner.

Fiber degeneration occurs in peripheral nerves and their roots. There are cases of hypertrophic changes in the interstitial tissue. The mutation in muscles has a neurological basis. Separate muscle groups atrophy.

A later form of the disease is characterized by hyaline degeneration and complete breakdown of muscle fibers.

Often the disease is accompanied by significant changes in the spinal cord. The region of the anterior horns is affected, as well as the lumbar and cervical region, which disrupts nerve conduction in the spinal cord.

This condition is typical for

Symptoms of the disease

In a greater percentage of cases, Charcot Marie disease affects men.

The onset of the disease usually refers to the age of 15 - 30 years. Very rarely, the disease develops in the preschool period.

The onset of the disease is characterized by such manifestations as weakness in the muscles, fatigue in the legs. Patients cannot stand in one place and, to reduce muscle tension, they begin to stomp on one point.

There are cases when the onset of the disease is accompanied by acute pain in the muscles, various unpleasant sensations, a feeling of crawling in the legs.

Other symptoms:

the shape of the toes is bent, similar to a hammer;
decreased sensitivity in the legs and feet;
muscle cramps in the lower extremities and forearm;
a person cannot move his legs in a horizontal direction;
manifestations such as ankle sprains and foot fractures are common;
loss of sensitivity: inability to distinguish between vibration, cold and hot touch;
violation of the letter;
violation of fine motor skills: the patient cannot fasten a button.

Primarily, degeneration affects the muscles of the legs and feet in a symmetrical manner. The muscles in the tibia also atrophy. During such processes, the shape of the leg sharply narrows in the distal sections.

The legs become like the shape of an inverted bottle. In another way they are called "legs of a stork". Foot deformity occurs. Paresis in the feet significantly changes the nature of the gait.

The patient cannot step on his heels and when walking they raise their legs high. Such a gait is called steppage, which is translated from English as "workhorse".

A few years after the onset of foot degeneration, the disease is also detected in the distal parts of the hands, as well as in the small muscles of the hands.

The hands of the patient become similar to the crooked hands of a monkey. Muscle tone is weakened. tendon reflexes are uneven display.

Babinsky's pathological symptom is noted. The level of Achilles reflexes drops markedly. Only knee reflexes and reflexes of the three- and biceps muscles of the shoulder remain intact for a long time.

Trophic disorders such as hyperhidrosis and hyperemia of the hands and feet are noted. The patient's intellect, as a rule, does not suffer.

The proximal limbs are not subject to degenerative changes. The atrophic process does not extend to the muscles of the trunk, cervical region and head.

Total atrophy of the leg muscles leads to dangling foot syndrome.

Interestingly, despite the pronounced degeneration of the muscles, patients can still retain the ability to work for some time.

Diagnosis of the disease

The diagnosis is based on the study of the genetics of the diseased and the features of the manifestation of the disease. The doctor should carefully ask about the symptoms and history of the disease, examine the patient.

Necessarily checked nerve and muscle reflexes. For these purposes, EMG is used to record nerve conduction parameters.

A DNA test and a complete blood count are prescribed. If necessary, a biopsy of nerve fibers is performed.

Rare and very dangerous, it has a poor prognosis and is practically untreatable. Details in our article.

A similar disease, Friedreich's hereditary ataxia has similar symptoms and treatment approach. What about disease?

Treatment approach

Treatment is carried out in accordance with the available symptoms of neural amyotrophy of Charcot Marie Tuta. The events are complex and lifelong.

It should be noted that more effective methods of treatment are not known to medicine. Only methods are used that help to alleviate the patient's condition and improve their quality of life.

It is important to optimize the functional parameters of the patient's coordination and mobility. Therapeutic measures should be aimed at protecting weakened muscles from injury and reducing sensitivity.

Relatives of the patient should help him in every possible way in the fight against this disease. After all, treatment is carried out not only in medical institutions, but also at home.

All prescribed procedures must be strictly followed and carried out daily. Otherwise, there will be no results from the treatment.

Treatment of amyotrophy includes a number of techniques:

Additionally use:

With amyotrophic lesions a specific diet. Eating foods with a high-grade protein content is shown, patients adhere to a potassium diet, should consume more vitamins.
With the regressive nature of the course of the disease, in parallel with the above means mud, radon, coniferous, sulfide and hydrogen sulfide baths are prescribed. An electrophoresis procedure is used to stimulate the peripheral nerves.
In violation of mobility in the joints and deformation of the skeleton orthopedic correction indicated.

To alleviate the emotional state of the sick person, psychotherapeutic conversations are required.

The treatment is based on the use of agents that improve trophic parameters and the transmission of impulses along nerve fibers.

Medical treatment

For this purpose, the use of drugs such as:

Complications of the disease

With a progressive course, Sharko Marie Tuta's amyotrophy can lead the patient to complete disability.

The result can be an absolute loss of the ability to walk. There may be manifestations such as severe loss of touch, as well as deafness.

Disease prevention

Prevention is seeking advice from a geneticist. Polio and tick-borne encephalitis vaccines should be made in a timely manner.

Prevention of the development of early deformity of the foot is wearing comfortable orthopedic shoes.

Patients should visit a specialist in foot diseases - a podiatrist, who will be able to prevent changes in soft tissue trophism in time, and, if necessary, prescribe appropriate drug therapy.

Walking difficulties can be corrected by wearing special braces(ankle-foot orthoses). They can control the dorsiflexion of the leg and lower leg, eliminate ankle instability, and improve body balance.

Such a device allows the patient to move independently and prevents unwanted falls and injuries. Foot braces are used for drop foot syndrome.

A system of measures to help patients and their families "a world without Charcot Marie Tooth's disease" is widely developed abroad.

There are various specialized organizations, societies and foundations. Research is constantly being carried out to find new methods of treating this disease.

Unfortunately, there are no such institutions on the territory of the Russian Federation, but research in the field of studying and searching for optimal methods of treatment is being carried out and quite actively.

Such programs operate in research institutes in Bashkortostan, Voronezh, Krasnoyarsk, Novokuznetsk, Samara, Saratov and Tomsk.

Amyotrophy is due to the involvement in the pathological process of the cells of the anterior horns of the spinal cord, as well as their processes and spinal nerves. They are characterized by a gradual development of it, a qualitative reaction of the degeneration of the corresponding muscles, a decrease in their electrical excitability. Both sarcoplasm and myofibrils undergo atrophy. A denervation, secondary muscle fiber develops as a result of a violation of its innervation, in contrast to the primary atrophic process in the muscles, in which the function of the peripheral motor neuron does not suffer (see Fig. progressive muscle dystrophies ).

When the anterior horns of the spinal cord are affected, fibrillar twitches are detected in the atrophied muscles of the proximal parts of the limbs and trunk, and asymmetry of the lesion is noted; the reaction of muscle degeneration also appears early in the study of electrical excitability. When the motor roots or fibers of the peripheral nerves are damaged, peripheral s or and, mainly in the distal extremities, sensitivity disorders of the polyneuritic type, fibrillar twitches are absent.

Neural Charcot-Marie amyotrophy (peroneal muscular atrophy) is a slowly progressive disease, the main symptom of which is muscle atrophy in the distal lower extremities.

hereditary disease. The main type of transmission is autosomal dominant (with a pathological gene penetrance of about 83%), less often autosomal recessive.

The morphological basis of the disease is degenerative changes mainly in the peripheral nerves and nerve roots, concerning both the axial cylinders and the myelin sheath. Sometimes there are hypertrophic phenomena in the interstitial tissue. Changes in the muscles are predominantly neurogenic in nature, there is atrophy of individual groups of muscle fibers; there are no structural changes in non-atrophied muscle fibers. As the disease progresses, hyperplasia of the interstitial connective tissue appears, changes in muscle fibers - their hyalinization, central displacement of the sarcolemmal nuclei, hypertrophy of some fibers. In the later stages of the disease, hyaline degeneration and the breakdown of muscle fibers are noted. Along with this, in a number of cases, changes in the spinal cord were noted. They consist of atrophy of the cells of the anterior horns, mainly in the lumbar and cervical parts of the spinal cord, and varying degrees of damage to the conduction systems, which is characteristic of Friedreich's hereditary ataxia.

Clinical picture

The main symptom of the disease is amyotrophy, which begins symmetrically from the distal lower extremities. First of all, the extensors and abductors of the foot are affected, as a result of which the foot hangs down, a characteristic gait appears - steppage (from the English steppere - a workhorse). The foot flexors and adductors are affected later. Atrophy of the muscles of the foot leads to claw-like set of toes and deformity of the foot resembling Friedreich's foot. The amyotrophic process gradually spreads to more proximal sections. However, in the vast majority of cases, the proximal limbs remain intact; the process also does not apply to the muscles of the trunk, neck and head. With atrophy of all the muscles of the lower leg, a dangling foot is formed. At this stage of the disease, the symptom of "trampling" is often noted, when patients in a standing position constantly shift from foot to foot. Muscle atrophy may extend to the lower thighs. The shape of the leg in these cases resembles an overturned bottle. As a rule, after a few years, atrophy extends to the upper limbs. First of all, the small muscles of the hand are affected, as a result of which the hand takes on the shape of a “monkey paw”. Then the muscles of the forearm are involved in the process. Shoulder muscles suffer to a much lesser extent. It is noteworthy that, despite the pronounced muscle atrophy, patients can remain able to work for a long time. With neural amyotrophy, mild fascicular twitches in the muscles of the extremities are often observed. An electromyographic study reveals signs of neuritic, anterior horn and suprasegmental types of muscle electrogenesis disorders.

Signs of amyotrophy of neural Charcot-Marie

A characteristic and early sign of the disease is the absence or significant decrease in tendon reflexes. First of all, Achilles' reflexes disappear, and then knee reflexes. However, in some cases, there may be an increase in tendon reflexes, a pathological symptom of Babinsky. These signs, associated with damage to the lateral columns of the spinal cord, are observed only in the early stages or with rudimentary forms of the disease. Compensatory muscle hypertrophy may occur in the proximal limbs.

Sensory disturbances are also characteristic of neural amyotrophy. In the distal extremities, hypoesthesia is determined, and superficial types of sensitivity, mainly pain and temperature, suffer to a much greater extent. There may be pain in the limbs, increased sensitivity to pressure of the nerve trunks.

In some cases, there are trophic disorders - edema and cyanosis of the skin of the extremities.

Clinical manifestations of the disease in a number of families may vary. Families are described where, along with typical neural amyotrophy, there were cases of hypertrophic polyneuritis. In this regard, some authors combine these diseases into one nosological form.

The connection between neural amyotrophy and Friedreich's hereditary ataxia has been repeatedly emphasized. Families have been observed with some members having neural amyotrophy, others with Friedreich's ataxia. Intermediate forms between these diseases are described; in some patients, the typical clinical picture of Friedreich's ataxia after many years was replaced by a picture of neural amyotrophy, which some authors consider even an intermediate form between Friedreich's ataxia and neurofibromatosis.

Sometimes there is a combination of neural amyotrophy with myotonic dystrophy.

Men get sick a little more often than women. The disease usually begins in childhood - in the second half of the first or first half of the second decade of life. However, the age of onset of the disease can vary widely in different families, which allows for the possibility of genetic heterogeneity of this disease.

Course of the disease- slowly progressive. Between the onset of amyotrophy in the upper and lower extremities can take up to 10 years or more. Sometimes the process is exacerbated due to various exogenous hazards. In some cases, the condition of patients may remain stationary for a long time.

Neural amyotrophy is sometimes difficult to differentiate from various chronic polyneuritis, in which distal muscle atrophy is also observed. Hereditary nature and the progressive course of the disease speak in her favor. Neural amyotrophy differs from distal Hoffmann myopathy by fascicular twitching in the muscles, sensory disturbances, absence of damage to the muscles of the trunk and proximal extremities, as well as an electromyographic pattern.

Hypertrophic interstitial neuritis Dejerine - Sotta differs from neural amyotrophy by a significant thickening (often nodular) of the nerve trunks, ataxia, scoliosis, more severe changes in pain sensitivity, the frequent presence of pupillary disorders, nystagmus.

Treatment of amyotrophy of neural Charcot-Marie

Treatment symptomatic. Apply anticholinesterase drugs, B vitamins, ATP, repeated blood transfusions of the same group, physiotherapy, massage, light gymnastics. Treatment should be repeated courses. With hanging feet, orthopedic care is indicated (special shoes, in severe cases, tenotomy).

The correct choice of a profession that is not associated with great physical fatigue plays an important role.

Patients should refrain from childbearing, as the risk of having a sick child is 50%.

Amyotrophy neural Charcot-Marie has another name - perineal muscular atrophy. This disease is characterized by slow progression, the main symptom of which is atrophic processes in the muscular system of the distal lower extremities.

Causes

This disease has a hereditary origin, the main type of transmission is an autosomal dominant mode in 83% of cases, as well as an autosomal recessive mode.

Symptoms

The initial stage of neural Charcot-Marie amyotrophy occurs in adolescence. The first symptoms are atrophic processes in the perineal muscles with the gradual development of a "cock's gait".

Muscular atrophy increases gradually and very slowly, at a later stage of the disease, the hands can also be affected, as a result of which the reflexes in the tendons disappear. There are also frequent pain in the legs, there may be mild distal hypesthesia. The functions of coordination and the work of the pelvic muscles are not disturbed, the cerebrospinal fluid remains normal.

Conducting a study of the speed of conduction along the nerve endings using electromyography, experts determined that neural Charcot-Marie amyotrophy has a neurogenic genesis.

Diagnosis

Very often, this disease is difficult to distinguish from various chronic polyneuritis, which is also characterized by distal muscle atrophy. Unlike polyneuritis, neural amyotrophy has a hereditary origin and progresses throughout the disease.

Neural Charcot-Marie amyotrophy differs from Hoffmann's myopathy in that there are fascicular twitches in the muscular system, sensitivity is impaired, and there are no affected areas in the muscles of the trunk. Also, this disease is diagnosed using an electromyographic study.

Treatment

Treatment of this disease is symptomatic. Appointed:

drugs of the anticholinesterase group;
B vitamins;
adenosine triphosphate;
regular blood transfusions of the same group;
physiotherapy course of procedures;
therapeutic massages;
light exercise.

Treatment should be carried out in several courses with regular repetitions. If drooping of the feet is observed, the use of orthopedic shoes is recommended, in severe forms - surgical intervention (tenotomy).

A special role for a sick or recovered person is played by the choice of professional activity, which should not be associated with heavy physical exertion. Also, women diagnosed with neural Charcot-Marie amyotrophy are not recommended to give birth, as there is a high risk of giving birth to a sick baby. According to statistics, fifty percent of women with this disease give birth to sick children.

Neural amyotrophy of Charcot-Marie-Tooth. Frequency 1 per 50,000 population.

What provokes / Causes of Charcot-Marie-Tooth neural amyotrophy

It is inherited in an autosomal dominant manner, less often in an autosomal recessive X-linked pattern.

Pathogenesis (what happens?) during Charcot-Marie-Tooth Neural Amyotrophy

Segmental demyelination is found in the nerves, in the muscles - denervation with the phenomena of "beam" atrophy of muscle fibers.

Symptoms of Charcot-Marie-Tooth Neural Amyotrophy

The first signs of the disease often appear at the age of 15-30, less often at preschool age. At the onset of the disease, the characteristic symptoms are muscle weakness, pathological fatigue in the distal parts of the lower extremities. Patients quickly get tired with prolonged standing in one place and often resort to walking in place to reduce fatigue in the muscles (“trampling symptom”). Less commonly, the disease begins with sensory disorders - pain, paresthesia, crawling. Atrophies initially develop in the muscles of the legs and feet. Muscular atrophies are usually symmetrical. The perineal muscle group and the tibialis anterior muscle are affected. Due to atrophy, the legs narrow sharply in the distal sections and take the form of “inverted bottles” or “stork legs”. The feet are deformed, become "eaten", with a high arch. Paresis table changes the gait of patients. They walk with their feet high: walking on their heels is impossible. Atrophy in the distal parts of the arms - thenar and hypothenar muscles, as well as in the small muscles of the hands, join several years after the development of amyotrophic changes in the legs. Atrophy in the hands is symmetrical. In severe cases, with severe atrophy, the hands take the form of "clawed", "monkey". Muscle tone is evenly reduced in the distal extremities. Tendon reflexes change unevenly: Achilles reflexes decrease in the early stages of the disease, and the knee reflex, reflexes from the triceps and biceps of the shoulder remain intact for a long time. Sensory disturbances are defined by disturbances of superficial sensitivity of the peripheral type ("type of gloves and socks"). Often there are vegetative-trophic disorders - hyperhidrosis and hyperemia of the hands and feet. Intelligence is usually preserved.

Flow. The disease progresses slowly. The prognosis is favorable in most cases.

Diagnosis of neural amyotrophy Charcot-Marie-Tooth

The diagnosis is based on genealogical analysis data (autosomal dominant, autosomal recessive, X-linked recessive type of inheritance), clinical features (atrophy of the distal extremities, sensitivity disorders of the polyneuritic type, slow progressive course), results of global, needle and stimulation electromyography (decrease in conduction velocity along sensory and motor fibers of peripheral nerves) and, in some cases, nerve biopsy.

The disease should be differentiated from distal Gowers-Welander myopathy, hereditary distal spinal amyotrophy, myotonic dystrophy, peripheral neuropathies, intoxication, infectious polyneuritis and other diseases.

Treatment of neural amyotrophy Charcot-Marie-Tooth

Therapy of progressive neuromuscular diseases is aimed at improving muscle trophism, as well as the conduction of impulses along nerve fibers.

In order to improve trophism, mice are prescribed adenosine triphosphoric acid, cocarboxylase, cerebrolysin, riboxin, phosphaden, carnitine chloride, metnonine, leucine, glutamic acid. Anabolic hormones are prescribed only in the form of short courses. Vitamins E, A, groups B and C are used. Means that improve microcirculation are shown: nicotinic acid, xanthinol nicotinate, nikospan, pentoxifylline, parmidine. To improve conductivity, anticholinesterase drugs are prescribed: galantamine, oxazil, pyridostigmine bromide, stefaglabrin sulfate, amyridine.

Along with drug therapy, exercise therapy is used. massage and physiotherapy. Prevention of osteoarticular deformities and contractures of the extremities is important.

In the complex treatment of patients, the following types of physiotherapy are used: electrophoresis of drugs (prozerin, calcium chloride), diadynamic currents, myostimulation with sinusoidal modulated currents, electrical stimulation of nerves, ultrasound, ozokerite, mud applications, radon, coniferous, sulfide and hydrogen sulfide baths, oxygen barotherapy. Orthopedic treatment is indicated for contractures of the limbs, moderate spinal deformity and asymmetric shortening of the limbs. Showing complete proteins, potassium diet, vitamins.

Treatment should be individual, complex and long-term, consisting of consecutive courses, including a combination of different types of therapy.