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

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, which results in a decrease in the volume and number of 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, secondary atrophy of the muscle fiber develops as a result of disruption 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. The severity of movement disorders that develop in this case may vary.

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 of flaccid paralysis and muscle atrophy, asymmetry of the lesion, and the absence of tendon reflexes. The sensitivity and functions of the pelvic organs are usually not impaired. 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 (“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 in 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 at a 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. The development of motor functions is initially normal, gradually stops, and 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 chest deformities and joint laxity. Fibrillation of the tongue muscles and decreased pharyngeal and palatal reflexes are typical. Bulbar syndrome with dysphagia gradually develops. 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 the deposition of 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, motor activity persists for a long time. Patients live up to 40-50 years, often having the ability to self-care. When bulbar symptoms appear in the later stages, the prognosis worsens.

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 an outpatient setting requires not only a thorough clinical examination of the patient but also a complete examination of his family members in order to identify abnormalities in the development 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 made 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. A distinctive feature is also the 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.

Tick-borne encephalitis is 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 is local in nature, 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 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 parts of the spinal cord, and varying degrees of damage to 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

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.

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 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 of which 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.

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. It 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. B vitamins, vitamin E, glutamic acid, aminalon, proserin, dibazol, biostimulants, anticholinesterase agents, and anabolic hormones are used. 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: “AMIOTROPHY NEURAL 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 of the nervous system, ed. P.V. Melnichuk. 1982.

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

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, pine, 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.

(CMT) is a genetic nerve disorder that causes muscle weakness, especially in the arms and legs. The name of the disease comes from the doctors who first described it: Jean Charcot, Pierre Marie, and Howard Henry Tooth.

The disease affects the peripheral nerves, outside the central nervous system, that control muscles and allow a person to sense touch. Symptoms get worse gradually, but most people with the disease have a normal life expectancy.

Signs and symptoms of CMT

The most common symptom of Charcot-Marie-Tooth disease is atrophy of the limbs, especially the calf muscles. The legs tend to become weak. In the early stages, people may not know they have the disease because the symptoms are mild.

Symptoms in a child with CMT

The child is clumsy and often falls;
They have an unusual gait due to difficulty lifting their legs;
Other symptoms often appear during puberty, but they can appear at any age.

Symptoms of CMT in adults

Weakness in the muscles of the legs and ankles;
Curvature of toes;
Difficulty lifting the foot due to weak ankle muscles;
Numbness in the arms and legs;
Change in the shape of the lower leg, with the leg becoming very thin below the knee, while the thighs retain normal muscle volume and shape (stork leg);
Over time, the arms become weaker and patients find it difficult to perform daily tasks;
Pain in the muscles and joints appears, and it is difficult for a person to walk. Neuropathic pain occurs due to damaged nerves;
In severe cases, the patient may need a wheelchair, while others may use special shoes or other orthopedic devices.

Risk factors and causes of CMT

CMT is a hereditary disease, so people who have close relatives with the disease have a higher risk of developing the disease.

The disease affects peripheral nerves. Peripheral nerves are made up of two main parts: the axon, which is the inner part of the nerve, and the myelin sheath, which is the protective layer around the axon. CMT can affect the axon and myelin sheath.

At ShMT 1genes that cause the breakdown of the myelin sheath are mutated. Eventually, the axon is damaged and the patient's muscles no longer receive clear messages from the brain. This leads to muscle weakness and loss of sensation or numbness.

At CMT 2the mutating gene directly affects axons. The signals are not transmitted strongly enough to activate the muscles and senses, so patients have weak muscles, poor sensation, or numbness.

ShMT 3 or Dejerine-Sottas disease, a rare type of disease. Damage to the myelin sheath leads to severe muscle weakness and soreness. Symptoms may be noticeable in children.

ShMT 4is a rare disease that affects the myelin sheath. Symptoms usually begin in childhood and patients often require a wheelchair.

ShMT Xcaused by a mutation on the X chromosome. It is more common in men. A woman with CMT X will have very mild symptoms.

How to diagnose CMT?

The doctor will ask about your family history and look for signs of muscle weakness - decreased muscle tone, flat feet, or high arches (cavus).

Nerve conduction studies measure the strength and speed of electrical signals that travel through nerves (electromyography). Electrodes are placed on the skin and deliver mild electric shocks that stimulate the nerves. A delayed or weak response suggests a neurological disorder, and possibly CMT.

With electromyography (EMG), a thin needle is inserted into the muscle. When the patient relaxes or contracts the muscles, electrical activity is measured. Testing different muscles will show which one is suffering.

Genetic testing is done using a blood sample that can show whether a patient has gene mutations.

Treatment of Charcot-Marie-Tooth disease

There is no cure for CMT yet, but it is possible to relieve symptoms and delay the onset of disability.

NSAIDs (nonsteroidal anti-inflammatory drugs), such as ibuprofen, reduce joint and muscle pain and pain caused by damaged nerves.

Tricyclic antidepressants (TCAs) are prescribed if NSAIDs are not effective. TCAs are commonly used to treat depression, but they can reduce the painful symptoms of neuropathy. However, they do have side effects.

Physical therapy can help strengthen and stretch your muscles. Exercise will help maintain muscle strength.

Occupational therapy can help patients who have problems with finger movement and find it difficult to carry out daily activities.

Orthopedic devices can prevent injury. High-top shoes or special boots provide additional ankle support, and special shoes or shoe insoles can improve gait.

Surgery to remove the Achilles tendon can sometimes relieve pain and make walking easier. Surgery can correct flat feet and relieve joint pain.

Possible complications of CMT

Breathing may be difficult if the disease affects the nerves that control the diaphragm. The patient may need bronchodilator medications or mechanical ventilation. Being overweight or obese can make breathing difficult.

Depression can be a result of the mental stress, anxiety and frustration of living with any progressive illness. Cognitive behavioral therapy helps patients cope better with everyday life and, if necessary, with depression.

Although CMT cannot be cured, taking some steps can help prevent further problems. These include taking good care of your feet, as there is an increased risk of injury and infection, and avoiding coffee, alcohol and smoking.

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Types of Amyotrophy

Clinical picture

Diagnostics

Prevention

Literature

Amyotrophy neural Charcot-Marie

Types of Amyotrophy

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

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.

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.

Differentiation of neural amyotrophy

Clinical picture

Signs of neural amyotrophy of Charcot-Marie

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

Diagnostics

Treatment

Prevention

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 of the nervous system, ed. P.V. Melnichuk. 1982.

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

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.