Neural amyotrophy of Charcot-Marie. Charcot-Marie-Tooth disease (Charcot-Marie-Tooth disease, hereditary motor-sensory neuropathy type I, hereditary Charcot-Marie-Tooth neuropathy, CMT, neural amyotrophy)

Charcot-Marie-Tooth neural amyotrophy is a chronic hereditary disease, the main symptom of which is progressive muscle atrophy, localized in the distal parts of the extremities, starting mostly from the lower extremities, then spreading to upper limbs and in most cases gentle cranial nerves and the muscles of the trunk.

The etiology of neural amyotrophy comes down to the action of a hereditary dominant factor; therefore, direct transmission of the disease from parents to children occurs most often here. There are cases where the disease was transmitted through 8 generations. Men get sick 1.5 times more often than women. The disease is spread throughout the globe.

Symptoms and signs of the disease

The disease develops gradually, most often starting in at a young age, but sometimes in early childhood. In rare cases, at a later age (after 40 - 50 years and even later). The first signs of the disease are gradually increasing atrophy of the muscles of the lower extremities. Atrophy is localized in the distal parts, and progressive weight loss of the legs is observed.

The distribution of atrophies may vary. Most often, the group of extensors of the foot and fingers and the peroneal muscles are affected, but in the future the process can also affect other muscle groups of the legs, ultimately leading to complete paralysis of the feet (dangling foot).

Atrophy of the small muscles of the foot itself is often expressed in the formation of a typical alignment of the toes, mainly the 2nd-5th, with extension of the main and flexion of the middle and nail phalanges (the so-called “clawed foot”). The process rarely affects the thigh muscles or is limited to atrophy of the muscles of the distal 1/3 of the thigh. The preserved proximal muscles stand out for their size against the background of this atrophy (which is partly facilitated by compensatory hypertrophy of the proximal muscles), due to which the hips receive a pronounced inverted cone shape, which is compared to a “bird's leg”.

Tendon-muscular retractions rarely accompany this form; bone growth in length is not disrupted. Gait in almost all cases, without exception, remains possible, but peculiarly modified, in the form of the so-called steppage (“cock gait”). Often, standing in one place, these patients are forced to constantly step from foot to foot, or hold on to some object with their hand, since dangling feet make long-term stable standing impossible. In many cases it develops typical symptom with a sharp arching of the arch of the foot and with its shortening.

After a certain period of time (from one year to several decades), a similar process begins to develop in the upper limbs. The elevation is flattened thumb and the eminence of the muscle, the area of ​​the abductor muscle, the area of ​​the interosseous muscles sinks, the hand takes the form of a monkey or clawed paw, increasing paresis occurs in parallel with atrophy; retractions are usually not formed here either. The process here, too, slowly spreads in the central direction, capturing the muscles of the forearm, but the proximal parts of the arms and the shoulder girdle remain free.

Atrophies in neural amyotrophy of Charcot-Marie-Tooth usually spare the muscles of the trunk and cranial nerves. Functional ability affected limbs may persist paradoxically for a long time. These paralysis bear all the signs of degenerative, atrophic paralysis. In the affected muscles, a partial or complete reaction of degeneration is detected, fibrillary twitching is frequent. Tendon reflexes fade away, and often this extinction significantly precedes atrophy and can be detected in those muscle groups that are not at all paralyzed in the future. Spastic symptoms in pure cases they are absent. The process is usually strictly symmetrical, although in time one limb may be affected long before the appearance of a similar process in the opposite limb.

The progressive spread of atrophies may in some cases be subject to modification of such a kind that the upper extremities become ill simultaneously with the lower extremities, and sometimes their atrophy even precedes the atrophy of the lower extremities. This hand onset is more common in late onset cases of Charcot-Marie-Tooth disease.

Along with these characteristic motor symptoms, the clinical picture of neurotic amyotrophy also includes typical changes in sensitivity. This includes, first of all, pain, which is observed in a number of cases. Sometimes they begin long before the appearance of atrophies and weaken or even disappear altogether later. The pain is cutting, tearing in nature, localized in the affected limbs, often appears in the form of separate attacks separated by free intervals, and often intensifies after fatigue.

In addition to pain, various paresthesias can be observed. At objective research There is a dullness of all types of skin sensitivity, often reaching the degree of complete anesthesia, without sharp boundaries, intensifying towards the distal parts. Peripheral nerves may be tender to pressure. A painful tonic spasm is often observed. Affected limbs often exhibit intense vasomotor disorders in the form of cyanosis, cold skin, etc.

This is the typical symptomatology of Charcot-Marie-Tooth neural amyotrophy. Individual deviations from this form are possible; Individual unusual symptoms may be mixed into the main picture, mostly running in parallel with the addition of a peculiar change in the peripheral nerve trunks, in the form of the so-called “hypertrophic neuritis.” In such cases, the peripheral nerves appear thickened and dense to the touch. Sometimes they are visible to the naked eye in the form of cylindrical elevations. In this case, the pressure on the nerve trunks turns out to be painless, and their electrical excitability drops sharply even in areas remote from those where the atrophic process takes place (for example, in the n. facialis). Loss of faradic sensitivity of the skin on the fingertips is a subtle reaction to hypertrophic neuritis.

Pathological anatomy

The pathological anatomy of Charcot-Marie-Tooth neural amyotrophy comes down to a combination of degenerative changes in the spinal cord and peripheral nerves. In the spinal cord, the posterior columns and cells of the anterior horns are affected. Sometimes this permanent finding is accompanied by small sclerotic changes in the lateral columns. Found degenerative changes also in the roots and in the spinal ganglia. The process is purely degenerative, not accompanied by inflammatory changes.

In the peripheral nerves, a picture of degenerative neuritis is observed, which intensifies with distance from the center and is most strongly developed in the peripheral nerve branches. The connective tissue of the nerve trunks grows to a greater or lesser extent. Sometimes this interstitial hyperplasia is visible under a microscope even in cases where macroscopically the caliber of the nerve did not appear to be altered. Sometimes this process is accompanied by the multiplication of Schwann shell nuclei. This creates gradual transitions to the picture of real hypertrophic neuritis.

Course of the disease

The process is very slow and gradually progressive. Patients live to old age and even in these later periods illnesses often retain the ability to walk with a stick and to a certain extent use their hands.

The disease often takes a further stationary course. However, exacerbations are sometimes observed due to random external causes ( acute infections), subsequently allowing some reverse development.

In some cases, the picture of Charcot-Marie-Tooth neural amyotrophy is superimposed on individual neurotic symptoms.

Diagnostics

Diagnosis can be difficult in distinguishing neural amyotrophy from the so-called “distal type of myopathy,” which is also a hereditary disease leading to the development of distally localized muscle atrophies. However, this disease is not accompanied by a sensitivity disorder, it gives a greater development of muscle retractions, and to a much lesser extent is accompanied by a qualitative change in electrical excitability, tendon reflexes disappear here only in parallel with the degree of muscle atrophy, and the latter has a greater tendency to generalize and leads to complete immobility of patients.

Sporadic cases of Charcot-Marie-Tooth disease can sometimes create great difficulties in diagnosing chronic polyneuritis. The symptomatological similarity of both forms can be significant. The chronically progressive course in controversial cases resolves the issue in favor of neural amyotrophy.

Treatment

Therapy is purely symptomatic: anticholinesterase drugs, ATP, repeated transfusions of same-group blood, B vitamins, periodic rest, massage and electrification of atrophying muscles, etc. Due to the extremely slow progression, orthopedic measures on the foot are sometimes indicated, which can permanently improve gait.

Patients with Charcot-Marie-Tooth amyotrophy are advised to abstain from childbearing, since the risk of developing of this disease the child will have 50%; healthy family members, if they have passed the age at which the first symptoms of the disease appear, can marry and have children with minimal risk transmit the disease to them.

Neural amyotrophy of Charcot-Marie-Tooth is a slowly progressive disease in which atrophy of the distal parts of the lower extremities develops.

The incidence is 1 in 50,000.

Pathogenesis of neural amyotrophy Charcot-Marie-Tooth

The type of inheritance of the disease is autosomal dominant, less often - autosomal recessive, and also linked to the X chromosome.

At histological examination foci of segmental demyelination of nerves are detected. The muscles are denervated, with bundles of atrophied fibers.

Charcot-Marie-Tooth Neural Amyotrophy Clinic

Most often, the disease manifests itself at the age of 15-30; less often, signs of the disease appear in preschool age. Appear first fast fatiguability and muscle weakness of the distal lower extremities. Patients complain of the rapid onset of weakness when standing in one place for a long time, which forces them to resort to walking in place (a symptom of trampling). Sometimes the disease begins with the appearance of pain, paresthesia, a crawling sensation in the lower limbs. The pathological process begins with the muscles of the legs and feet and proceeds symmetrically. Next, damage occurs to the peroneal muscle group and the tibialis anterior muscle.

Severe atrophy leads to narrowing of the distal sections, causing the legs to take the shape of “inverted bottles” or “stork legs”. Deformation of the feet occurs, the arch becomes high, which changes the patient’s gait. Due to the impossibility of walking on heels, patients with Charcot-Marie-Tooth neural amyotrophy walk with their legs raised high.

Several years after the onset of the disease, the pathological process also affects the distal parts of the arms - atrophy of the thenar, hypothenar and small muscles of the hands develops. Severe atrophy causes the hand to take on the shape of a “clawed”, “monkey” paw.

With neural amyodystrophy of Charcot-Marie-Tooth, uneven changes in reflexes are noted - at the beginning of the disease, the Achilles reflexes, the knee reflex are reduced, and reflexes from the triceps and biceps brachii muscles remain intact for a long time. With this disease, sensory impairment occurs in a “gloves and socks” manner. With the development of vegetative-trophic disorders, patients complain of hyperhidrosis, hyperemia of the hands and feet.

Intelligence is preserved in Charcot-Marie-Tooth neural amodystrophy.

The disease, as a rule, progresses slowly, and the prognosis for life is favorable.

Diagnosis of Charcot-Marie-Tooth neural amodystrophy

Great value in diagnosis of the disease belongs to genealogical analysis, which, together with taking into account the characteristics of the clinic, the results of electromyograms and nerve biopsies, allows us to make the correct diagnosis.

Treatment of Charcot-Marie-Tooth neural amyodystrophy

An important role in treatment of Charcot-Marie-Tooth neural amodystrophy improves trophism, for which adenosine triphosphoric acid, cocarboxylase, Cerebrolysin, and riboxin are prescribed. Therapy is supplemented with vitamins A, E, B and C. Equal importance is attached physical therapy, massage. The presence of contractures is an indication for orthopedic treatment.

Comments

Types of Amyotrophy

Clinical picture

Diagnostics

Prevention

Literature

Amyotrophy neural Charcot-Marie

Amyotrophy (amyotrophia; Greek negative prefix a - + mys, myos muscle + trophe - nutrition) - a violation of muscle trophism associated with damage to the motor cells of the spinal cord and brain stem, as well as spinal nerves, the consequence of which is a decrease in volume and number muscle fibers and a decrease in their contractility. Amyotrophy is observed in certain diseases of the nervous and muscular systems caused by hereditary and non-hereditary factors (metabolic disorders of a genetic nature, infection, intoxication), as well as in a number of diseases of other organs and systems. 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 the gradual development of paralysis, a qualitative reaction of degeneration of the corresponding muscles, and a decrease in their electrical excitability. Both sarcoplasm and myofibrils undergo atrophy. Denervation develops, secondary atrophy muscle fiber 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.

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; atrophy and the reaction of muscle degeneration appear early when studying electrical excitability. When motor roots or fibers of peripheral nerves are damaged, peripheral paresis or paralysis occurs, mainly in the distal parts of the extremities, sensitivity disorders of the polyneuritic type, and there are no fibrillary twitches.

Types of Amyotrophy

Amyotrophies are divided into neural and spinal. Neural amyotrophies are caused by damage to peripheral nerves, spinal amyotrophies are caused by damage to motor neurons of the spinal cord and brain stem. Charcot-Marie-Tooth neural amyotrophy is a hereditary disease that is more common in women. The first signs of the disease usually appear at the age of 30-40 years. The main form of neural amyotrophy is Charcot-Marie-Tooth disease, as well as some rarer diseases, the belonging of which to neural amyotrophy is not fully proven (for example, Dejerine-Comma interstitial hypertrophic neuropathy, clinically very similar to Charcot-Marie-Tooth amyotrophy).

Neural amyotrophy Charcot-Marie-Tooth (syn. peroneal muscular atrophy) is characterized by the development of paralysis in the distal limbs and sensitivity disorders of the polyneuritic type. There are no muscle twitches.

Characteristic is atrophy of the muscles of the distal extremities, first the legs and then the arms. Sensitivity disturbances, gradual weakening of tendon reflexes and trophic disturbances (cyanosis, swelling, redness, sweating disorder) are also observed. The disease progresses slowly. Amyotrophy, predominantly in the distal extremities, with a decrease in muscle strength and impaired sensitivity is observed with polyneuritis. Heaviness movement disorders developing in this case may be different.

Spinal amyotrophies. Spinal A. include Werdnig-Hoffmann disease, the pseudomyopathic progressive form of Kugelberg-Welander, Aran-Duchenne disease, as well as other, rarer forms. Clinical manifestations characteristic of all forms of spinal A. are the gradual development flaccid paralysis and muscle atrophy, asymmetry of the lesion, absence of tendon reflexes. Sensitivity and functions pelvic organs usually not broken. There is a decrease in electrical excitability of the affected muscles and a qualitative reaction of degeneration when studying electrical excitability. Using electromyography, rhythmic potentials of fasciculations at rest (the “picket fence rhythm”), a decrease in electrical activity during voluntary contractions, an increase in the duration of the potential, etc. are revealed.

Hereditary spinal amyotrophies of Werdnig-Hoffmann and Kugelberg-Welander are diseases characterized by predominant damage to the motor cells of the anterior horns of the spinal cord. The first begins early childhood, has a progressive course and is characterized by widespread muscle atrophy with a decrease in muscle tone and tendon reflexes. The first signs of Kugelberg-Welander amyotrophy often appear in young or mature age; the disease progresses slowly. The proximal limbs are mainly affected. In some cases, patients can remain able to work for a long time. However, in general, the prognosis for these diseases is unfavorable.

In the early childhood form, signs of the disease begin to appear, usually at the age of 6 months. up to 1 year. Often flaccid paresis and diffuse muscle atrophy with fasciculations and fibrillations appear after infections and intoxications. Development motor functions initially normal, gradually stops, then regresses. In the late stage of the disease, muscle hypotonia becomes general, and bulbar palsy develops. The course is progressive, children live no more than 14-15 years.

The late form begins gradually at the age of 1.5-2.5 years. The child's movements and gait become uncertain, and children often fall. Flaccid paresis and atrophy of the muscles of the proximal limbs appear. Tendon reflexes are reduced. Muscular hypotonia contributes to the development of deformities chest, joint laxity. Fibrillation of the tongue muscles and decreased pharyngeal and palatal reflexes are typical. Gradually formed bulbar syndrome with dysphagia. Movement disorders progress, and by the age of 10-12 years, children lose the ability to move independently and take care of themselves. With this form of A., patients live up to 20-30 years.

The pseudomyopathic (juvenile) form of Kugelberg - Welander begins in most cases at the age of 4-8 years, sometimes later. Fatigue, general weakness, weakness in the legs (especially when climbing stairs), and fascicular twitching in the muscles appear. Muscle atrophy gradually develops, which can be masked by deposits subcutaneous fat. The gait changes, muscle tone decreases, tendon reflexes disappear, and the range of active movements decreases (flaccid paresis). On examination, the so-called pseudohypertrophy of the calf muscles is noted (an increase in their volume due to the development of adipose tissue). A few years after the manifestation of A. in the lower extremities, atrophy and fascicular twitching appear in the proximal muscle groups of the upper extremities (ascending type A). The course is slowly progressive, physical activity lasts for a long time. Patients live up to 40-50 years, often having the ability to self-care. When appearing in late stages bulbar symptoms the prognosis is worsening.

Spinal amyotrophy in adults (Aran-Duchenne disease). The belonging of this disease to spinal A. is not recognized by all researchers. The disease begins at the age of 40-60 years. Symmetrical progressive atrophy of the muscles of the distal limbs (usually the hands) gradually develops. Subsequently, the muscles of the proximal limbs, pelvic and shoulder girdles are also involved in the process. There are fasciculations in the affected muscles, and fibrillations in the muscles of the tongue. The course is slowly progressive. Death usually occurs from bronchopneumonia.

Diagnosis of spinal A. in outpatient setting requires not only a thorough clinical examination of the patient but also full examination members of his family in order to identify developmental anomalies of the neuromuscular system or other developmental defects. Spinal A. can be suspected in the presence of flaccid paralysis of a certain localization, muscle atrophy with fascicular twitching in them, areflexia, progressive course of the disease, etc. To clarify the diagnosis, the patient should be sent to a hospital, where biochemical, electrophysiological and pathomorphological studies of muscle biopsy can be performed. The results of these studies help differentiate spinal A. from some outwardly similar forms of primary progressive muscular dystrophies.

Differential diagnosis should also be carried out with neuroinfections and amyotrophic lateral sclerosis.

Interstitial hypertrophic neuropathy Dejerine-Sotta is rare. The belonging of the disease to neural A. has not been proven. Clinically, it is similar to Charcot-Marie-Tooth neural amyotrophy, but the disease begins in early childhood. Distinctive feature There is also a thickening of the nerve trunks (hypertrophic neuritis) as a result of the proliferation of connective tissue in them and hypertrophy of Schwann cells.

The diagnosis of neural A. is complicated. There are many rare forms of neural A., the diagnosis of which is possible only with the help of special studies in a hospital (biopsy of the skin nerve, determination of the speed of excitation along the nerve, clarification of examination data of the patient’s family members, etc.). Differential diagnosis is carried out with polyneuropathies, myopathies, infectious polyneuritis, etc.

Atrophic paralysis is also observed in acute poliomyelitis and polio-like diseases.

Some other hereditary amyotrophies

Malignant neurogenic muscular atrophy: onset at the age of 28-62 years, rapid malignant course, death from paralysis of the respiratory muscles

Amyotrophy scapulofibular.

Amyotrophy neurogenic scapulofibular, New England type).

Muscular atrophy of the spinal scapulofibular.

For tick-borne encephalitis characterized by atrophic paresis and paralysis of the muscles of the arms, shoulder girdle, neck and, less commonly, lower extremities. The process may also involve muscles innervated by cranial nerves; in these cases, disorders of swallowing, breathing, and cardiac activity develop, resulting in the need for resuscitation measures.

In amyotrophic lateral sclerosis (Amyotrophic lateral sclerosis) Amyotrophy has local character, mainly in the muscles of the hands. In this case, fasciculations (twitching of muscle fibers) are observed. As the disease progresses, Amyotrophy becomes widespread.

Type of disease.

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 the peripheral nerves and nerve roots, relating to 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; in non-atrophied muscle fibers structural changes are missing. 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 parts of the spinal cord, and varying degrees lesions of the conduction systems, characteristic of hereditary Friedreich's ataxia.

Differentiation of neural amyotrophy

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 nerve trunks, ataxia, scoliosis, more severe changes in pain sensitivity, the frequent presence of pupillary disorders, and nystagmus.

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 non-aural amyotrophy, pronounced 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.

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.

The course of the disease is 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.

Signs of neural amyotrophy of Charcot-Marie

Characteristic and early sign 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.

Charcot-Marie 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 limbs, increased sensitivity to pressure on nerve trunks.

In some cases, trophic disorders occur - edema and cyanosis skin limbs.

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 of which had neural amyotrophy, others had Friedreich's ataxia. Intermediate forms between these diseases have been described; in some patients, typical clinical picture 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.

Diagnostics

In the diagnosis of amyotrophy, an important role is played by the clinical features of the course of the disease, family interviews, as well as special electrophysiological and morphological research methods. Spinal amyotrophies are characterized by damage to the nerve cells of the spinal cord. Atrophy and the reaction of muscle degeneration in the study of electrical excitability, twitching, and asymmetry of the lesion are typical for them. Should be differentiated from progressive muscular dystrophies, neuroinfections (poliomyelitis) and amyotrophic lateral sclerosis. Neural amyotrophies occur when motor fibers or peripheral nerve roots are damaged. Diagnosis is difficult. There are many rare forms of neural amyotrophy, which can only be distinguished using special studies (skin nerve biopsy, determination of the rate of transmission of excitation along the nerve.

Treatment

Treatment of neurogenic amyotrophy is symptomatic, complex and lifelong. Treatment and prevention of amyotrophy involve treatment of the underlying disease. Use B vitamins, vitamin E, glutamic acid, aminalon, proserin, dibazol, biostimulants, anticholinesterase agents, anabolic hormones. For amyotrophies caused by diseases prone to regression, along with the above remedies, electrical stimulation of peripheral nerves, baths, and mud therapy are prescribed. Periodically, courses of anabolic steroids and pharmacotherapy are carried out. With impaired mobility in the joints and skeletal deformities, patients need orthopedic correction...

Prevention

Prevention of hereditary amyotrophies involves medical and genetic counseling. Specific vaccines are used against polio and tick-borne encephalitis. Prevention of other diseases occurring with amyotrophy has not been developed.

Literature

1.I. Sychkova: "NEURAL AMYOTROPHY CHARCOAT-MARIE".

2. Elmanova N.S., Savicheva E.M.: “Encyclopedic Dictionary of a Young Athlete.”

3.I.A. Zavalishin: "Concise medical encyclopedia".

4. Badalyan L.O. and Skvortsov I.A. Clinical electroneuromyography. 1986.

5.Diseases nervous system, ed. P.V. Melnichuk. 1982.

6.Gusev E.I., Grechko V.E. and Burd G.S. Nervous diseases. 1988.

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%.

Charcot's disease can refer to several diseases named after Jean-Martin Charcot, for example:

• Amyotrophic lateral sclerosis, degenerative muscle disease, known as Lou Gehrig's disease;
• Charcot-Marie-Tooth syndrome, a hereditary demyelinating disease of the peripheral nervous system;
• Neuropathic arthropathy, progressive degeneration of the weight bearing joint, also known as Charcot's disease or Charcot arthropathy.

Neural amyotrophy Charcot Marie Tooth (CMT) is a group of disorders in which motor or sensory peripheral nerves are affected. This leads to muscle weakness, atrophy, and sensory loss. Symptoms occur first on the legs, then on the arms.

Nerve cells People with this disorder are unable to send electrical signals correctly due to abnormalities in the nerve axon or its myelin sheath. Specific gene mutations are responsible for abnormal peripheral nerve function. Inherited in an autosomal dominant, autosomal recessive, X-linked manner.

Symptoms of Charcot Marie disease begin gradually in adolescence, but may start earlier or later. In almost all cases the longest nerve fibers are affected first. Over time, affected people lose the ability to use their legs and arms normally.

General signs include:

• decreased sensitivity to heat, touch, pain;
• muscle weakness of the limbs;
• problems with fine motor skills;
• unsteady gait;
• loss of muscle mass in the lower leg;
• frequent falls;
• high arched feet or flat feet.

Reflexes may be lost. The disease progresses slowly. Those affected can remain active for many years and live a normal life. In the most severe cases, breathing difficulties hasten death.

Causes

Genetic diseases are determined by the combination of genes for a particular trait that are found on chromosomes received from the father and mother.

A person who receives one normal gene and one disease gene is a carrier but usually does not show symptoms.

• The risk for two carrier parents of passing the defective gene to their children is 25%.
• Having a child who is a carrier -50%.
• The chance for a child to receive normal genes is 25%.

The risk is the same for men and women.

Dominant genetic disorders occur when only one copy of the abnormal gene is needed to cause the disease. The abnormal gene may be inherited from either parent or be the result of a new mutation (gene change).

• The risk of passing the abnormal gene from the affected parent to the offspring is 50% for each pregnancy, regardless of the sex of the child.

X-linked dominant genetic disorders caused by an abnormal gene on the X chromosome. Men with the abnormal gene are more severely affected than women.

Hereditary neuropathy is divided into several types called CMT1, CMT2, CMT3, CMT4 and CMTX.

CMT1

It is the dominant form of the disorder in which nerve conduction velocities are slow. More common than CMT2. Caused by abnormal genes that are involved in the structure and function of myelin. Further subdivided into CMT1A, CMT1B, CMT1C, CMT1D, CMT1X based on specific abnormalities.

1. CMT1A occurs due to duplication of the PMP22 gene, which is located on chromosome 17 at 17p11.2. Is the most common type.
2. CMT1B is caused by abnormalities in the MPZ gene on chromosome 1 at 1q22.
3. CMT1C arises from abnormalities of SIMPLE, located on chromosome 16 at 16p13.1-p12.3.
4. CMT1D abnormality of EGR2 located at 10, at 10q21.1-q22.1.
5. CMT1X arises from mutations in GJB1 (Xq13.1). It encodes the junction protein connexin32.

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CMT2

Is an autosomal dominant form of the disorder in which nerve conduction velocities are usually normal or slightly slower than normal. Caused by abnormal genes involved in axonal structure and function. Further subdivided into CMT2A-2L based on mutations.

1. CMT2A, is the most common and is caused by errors in MFN2, located on chromosome 1, at 1p36.2.
2. CMT2B from RAB7 mutations on chromosome 3 at 3q21.
3. CMT2C is caused by an unknown gene on 12 – 12q23-34.
4. CMT2D GARS errors, on 7 – 7p15.
5. CMT2E from NEFL located at 8 – 8p21.
6. CMT2F HSPB1 gene errors.
7. CMT2L mutations of HSPB8.

Dominant intermediate DI-CMT. It is so named because of the "intermediate" conduction velocity, the uncertainty as to whether the neuropathy is axonal or demyelinating. Dominant mutations in DMN2 and YARS are known to cause this phenotype.

CMT3

Also called Dejerine-Sottas disease, individuals with this disorder have a mutation in one of the genes responsible for CMT1A, CMT1B, CMT1D, CMT4.

CMT4

An autosomal recessive form of the condition. It is divided into CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F.

1. CMT4A is caused by abnormalities of GDAP1. The gene is located on chromosome 8 at 8q13-q21.
2. CMT4B1 is an abnormality of MTMR2 on 11 – 11q22.
3. CMT4B2 from SBF2/MTMR13 anomalies, at 11 at 11p15.
4. CMT4C errors KIAA1985, on chromosome 5 – 5q32.
5. CMT4D mutations NDRG1, on chromosome 8 – 8q24.3.
6. CMT4E, also known as congenital hypomyelinic neuropathy. Occurs from EGR2 abnormalities, on 10 – 10q21.1-q22.1.
7. CMT4F PRX abnormalities, on chromosome 19 – 19q13.1-q13.2.
8. CMT4H FDG4 errors.
9. CMT4J mutations FIG4.

However, most cases of CMT2 are not caused by mutations in these proteins, so many genetic reasons have not yet been discovered.

CMTX

It is an X-linked dominant form of the disorder. CMT1X accounts for about 90% of cases. The specific protein responsible for the remaining 10% of CMTX has not yet been identified.

Autosomal recessive CMT2 occurs due to mutations in LMNA, GDAP1.

Affected populations

Symptoms of Charcot Marie Tooth disease begin gradually during adolescence, early adulthood, or middle age. The condition affects men and women equally. Hereditary neuropathy is the most common inherited neurological disease. Because it is often unrecognized, misdiagnosed or diagnosed very late, the true number of people affected is uncertain.

Related violations

In hereditary sensory and autonomic neuropathies in Charcot-Marie Tooth disease, sensory (possibly autonomic) neurons and axons are affected. Dominant and recessive mutations cause hereditary disorders.

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Hereditary motor neuropathies are either predominant or inherited in a recessive manner. Often sensory fibers remain intact. Some types are accompanied by myelopathy.

Hereditary neuralgic amyotrophy

Hereditary brachial plexus neuropathy is autosomal dominant genetic disease. Affected individuals experience a sudden onset of shoulder pain or weakness. Symptoms often begin in childhood but can appear at any age.

Sometimes sensory loss is present. Partial or complete recovery is common. Symptoms may recur in the same or opposite limb. Physical Features, noted in some families, include short stature and close-set eyes.

Congenital hypomyelinic neuropathy (CHN)

A neurological disorder present at birth. Main symptoms:

• breathing problems;
• muscle weakness and inconsistency of movements;
• bad muscle tone;
• lack of reflexes;
• difficulty walking;
• decreased ability to feel or move a body part.

Refsum syndrome

Phytanic acid storage disease. It is a rare recessive genetic disorder of fat (lipid) metabolism. Characterized by:

• peripheral neuropathy;
• impaired muscle coordination (ataxia);
• retina pigmentosa (RP); deafness;
• changes in bones and skin.

The disease is manifested by a noticeable accumulation of phytanic acid in the blood plasma and tissues. The disorder occurs from the absence of phytanic acid hydroxylase, an enzyme that is essential for metabolism. Treated with a long-term diet without phytanic acid.

Familial amyloid neuropathy

Inherited in an autosomal dominant manner. Characterized by abnormal accumulations of amyloid in peripheral nerves. Most cases occur from a mutation in the TTR gene. It encodes the transthyrotin protein in serum. Dominant APOA1 mutations are a rare cause.

Hereditary neuropathy with blood pressure (HNPP)

A rare disorder that is inherited in an autosomal dominant manner. HNPP is characterized by focal neuropathies at sites of compression (peroneal neuropathy at the fibula, ulnar at the elbow, median at the wrist). HNPP arises from abnormalities in one of the two copies of PMP22 on chromosome 17 – 17p11.2.

Peripheral neuropathy

It is part of the 100 inherited syndromes, although it is usually overshadowed by other manifestations. De-dysmyelination of peripheral axons is a feature. Syndromes associated with axonal neuropathies are even more common.

Several types of hereditary spastic paraglegia have axonal neuropathy involving both motor and sensory axons or simply motor axons. Axonal neuropathy is a feature of many hereditary ataxias.