Amyotrophy neural Charcot-Marie (peroneal muscular atrophy). Treatment methods and signs of Charcot Marie Tooth disease, neural amyotrophy

Amyotrophy neural Charcot-Marie (peroneal muscular atrophy) has a slow progression.

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

It belongs to the category of diseases with a genetic predisposition. It is inherited mostly as an autosomal dominant trait and less frequently as an autosomal recessive trait.

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

The 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 area of the anterior horns is affected, as well as the lumbar and cervical spine, 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 manifestation of the disease, as a rule, 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 muscle weakness and fatigue in the legs. Patients cannot stand in one place and, to reduce muscle tension, begin to stomp on one point.

There are cases when the onset of the disease is accompanied by acute muscle pain, various unpleasant sensations, and a crawling feeling 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 horizontally;
manifestations such as sprained ankles and fractures in the feet are common;
loss of sensitivity: inability to distinguish between vibration, cold and hot touch;
writing disorder;
impairment of fine motor skills: the patient cannot fasten a button.

Primary 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. They are also called “stork legs”. Deformation of the feet occurs. Paresis in the feet significantly changes the nature of gait.

The patient cannot step on his heels and raises his legs high when walking. This gait is called steppage, which is translated from English as “work horse.”

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

The patient's hands become like the crooked hands of a monkey. Muscle tone is weakened. Tendon reflexes have uneven appearance.

A pathological Babinski sign is noted. The level of Achilles reflexes drops noticeably. Only the knee reflexes and reflexes of the triceps and biceps brachii muscles remain intact for a long time.

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

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

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

Interestingly, despite severe muscle degeneration, patients can retain the ability to work for some time.

Diagnosis of the disease

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

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

A DNA test and a general blood test are prescribed. If necessary, a nerve fiber biopsy 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 approaches. What about the disease?

Treatment approach

Treatment is carried out in accordance with the existing symptoms of neural amyotrophy of Charcot Marie Tooth. The activities are comprehensive and lifelong.

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

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

The patient's relatives 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 followed strictly and carried out daily. Otherwise, there will be no results from the treatment.

Treatment of amyotrophy includes a number of techniques:

Additionally use:

For amyotrophic lesions a certain diet is compiled. It is recommended to eat foods with high protein content; patients adhere to a potassium diet and should consume more vitamins.
If the course of the disease is regressive, in parallel with the above remedies mud, radon, pine, sulfide and hydrogen sulfide baths are prescribed. An electrophoresis procedure is used to stimulate the peripheral nerves.
In case of impaired mobility in joints and skeletal deformation correction by an orthopedic surgeon is indicated.

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

The basis of treatment is the use of agents that help improve trophic indicators and the transmission of impulses along nerve fibers.

Drug treatment

For this purpose, the use of medications such as:

Complications of the disease

With a progressive course, amyotrophy Shcharko-Marie Tuta can lead the patient to complete disability.

The result may be a complete loss of the ability to walk. Manifestations such as severe loss of touch as well as deafness may occur.

Disease prevention

Prevention is seeking advice from a geneticist. Vaccines against polio and tick-borne encephalitis should be administered in a timely manner.

Prevention of the development of early foot deformities is to wear comfortable orthopedic shoes.

Patients should visit a specialist in foot diseases - a podiatrist, who can promptly prevent changes in soft tissue trophism and, if necessary, prescribe appropriate drug therapy.

Difficulties in walking 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 without the help of others and prevents unwanted falls and injuries. Foot braces are used for foot drop syndrome.

A system of measures to provide assistance to patients and their families “a world without Charcot Marie Tooth disease” has been 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 treatment methods is being carried out quite actively.

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

Amyotrophies are caused by the involvement in the pathological process of 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 degeneration of the corresponding muscles, and a decrease in their electrical excitability. Both sarcoplasm and myofibrils undergo atrophy. Denervation, a 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. Progressive muscular dystrophies ).

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

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

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

The morphological basis of the disease is made up of degenerative changes mainly in peripheral nerves and nerve roots, affecting both the axial cylinders and the myelin sheath. Sometimes hypertrophic phenomena are observed in the interstitial tissue. Changes in muscles are predominantly neurogenic in nature; atrophy of individual groups of muscle fibers is noted; There are no structural changes in non-atrophied muscle fibers. As the disease progresses, hyperplasia of the interstitial connective tissue, changes in muscle fibers appear - their hyalinization, central displacement of the sarcolemmal nuclei, hypertrophy of some fibers. In later stages of the disease, hyaline degeneration and 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 part of the spinal cord, and varying degrees of damage to the conduction systems, characteristic of hereditary Friedreich's ataxia.

Clinical picture

The main symptom of the disease is amyotrophy, which begins symmetrically from the distal parts of the lower extremities. First of all, the extensors and abductors of the foot are affected, as a result of which the foot hangs down and a characteristic gait appears - steppage (from the English steppere - work horse). The foot flexors and adductors are affected later. Atrophy of the foot muscles leads to clawed toes and a foot deformity 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 extend 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 spreads to the upper limbs. The small muscles of the hand are affected first, resulting in the hand taking on the shape of a “monkey’s paw.” Then the muscles of the forearm are involved in the process. The shoulder muscles suffer to a much lesser extent. It is noteworthy that, despite severe muscle atrophy, patients can remain able to work for a long time. With neural amyotrophy, mild fascicular twitching in the muscles of the limbs is often observed. An electromyographic study reveals signs of neuritic, anterohorn and suprasegmental types of muscle electrogenesis disorders.

Signs of amyotrophy neural Charcot-Marie

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

Neural amyotrophy is also characterized by sensory disturbances. In the distal parts of the 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 extremities and increased sensitivity to pressure in the nerve trunks.

In some cases, trophic disorders occur - swelling and cyanosis of the skin of the extremities.

The clinical manifestations of the disease may vary among families. 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 hereditary Friedreich's ataxia has been repeatedly emphasized. Families were observed, some members had neural amyotrophy, others had Friedreich's ataxia. Intermediate forms between these diseases have been 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 neurofibromatoses.

Sometimes a combination of neural amyotrophy and myotonic dystrophy is observed.

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

Course of the disease- slowly progressive. Between the onset of amyotrophy in the upper and lower extremities, up to 10 years or more can pass. Sometimes the process is aggravated due to various exogenous hazards. In some cases, the patient's condition 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. The hereditary nature and progressive course of the disease speak in its 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 limbs, as well as an electromyographic pattern.

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

Treatment of amyotrophy neural Charcot-Marie

Treatment symptomatic. Anticholinesterase drugs, B vitamins, ATP, repeated transfusions of same-group blood, physiotherapeutic procedures, massage, and light exercises are used. Treatment should be carried out in repeated courses. For drooping 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 essential 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 parts of the lower extremities.

Causes

This disease is of 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 amyotrophy of neural Charcot-Marie occurs in childhood and adolescence. The first symptoms are atrophic processes in the perineal muscles with the gradual development of a “cock gait”.

Muscle atrophy increases gradually and very slowly; at a later stage of the disease, the hands may also be affected, as a result of which reflexes in the tendons disappear. Frequent pain in the legs is also observed, and there may be mild distal hypoesthesia. Coordination functions and the work of the pelvic muscles are not impaired, cerebrospinal fluid remains normal.

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

Diagnosis

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

Neural amyotrophy Charcot-Marie differs from Hoffman 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. This disease is also 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;
physiotherapeutic course of procedures;
therapeutic massages;
light exercise.

Treatment must be carried out in several courses with regular repetitions. If foot drop is observed, the use of orthopedic shoes is recommended; in severe forms, surgical intervention (tenotomy) is recommended.

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 who have been diagnosed with amyotrophy neural Charcot-Marie 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 type linked to the X chromosome.

Pathogenesis (what happens?) during Charcot–Marie–Tooth neural amyotrophy

Segmental demyelination is detected in the nerves, and in the muscles - denervation with the phenomena of “bundle” 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 in preschool age. At the onset of the disease, characteristic symptoms are muscle weakness and pathological fatigue in the distal parts of the lower extremities. Patients quickly get tired when standing in one place for a long time and often resort to walking in place (“tramping symptom”) to reduce muscle fatigue. Less commonly, the disease begins with sensory disorders - pain, paresthesia, crawling sensations. Atrophies initially develop in the muscles of the legs and feet. Muscle atrophy is usually symmetrical. The penile muscle group and the tibialis anterior muscle are affected. Due to atrophy, the legs sharply narrow in the distal sections and take on the shape of “inverted bottles” or “stork legs”. The feet become deformed, become “eaten away”, with a high arch. Table paresis changes the gait of patients. They walk with their legs raised high: walking on their heels is impossible. Atrophies in the distal parts of the arms - the thenar and hypothenar muscles, as well as in the small muscles of the hands, appear 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 on the shape of “clawed”, “monkey”. Muscle tone is uniformly reduced in the distal limbs. Tendon reflexes change unevenly: the Achilles reflexes decrease in the early stages of the disease, but the knee reflex, reflexes from the triceps and biceps brachii muscles remain intact for a long time. Sensory disorders are defined by disturbances in superficial sensitivity of the peripheral type (“gloves and socks type”). There are often 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 Charcot–Marie–Tooth neural amyotrophy

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

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

Treatment of Charcot-Marie-Tooth neural amyotrophy

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

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

Along with drug therapy, physical therapy is used. massage and physiotherapy. Prevention of osteoarticular deformities and contractures of the limbs 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 asymmetrical shortening of the limbs. Complete proteins, potassium diet, vitamins are indicated.

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