Muscle disease after exercise causes pathogenesis. Hereditary diseases of the nervous system, muscular dystrophy, myasthenia gravis. What do we have to do

A symptom of a neuromuscular disease can be muscle spasms or, conversely, their sharp relaxation.

Hereditary neuromuscular diseases unite a whole group of diseases, the common characteristic of which is disturbances in the functioning of the neuromuscular apparatus “recorded” in the genome. Muscle atrophy, their excessive contraction or, on the contrary, relaxation - all this can be a sign of inherited diseases.

Types of hereditary neuromuscular diseases

Hereditary neuromuscular diseases include many different disorders, which are divided into several groups:

• primary progressive muscular dystrophies or myopathies.
• secondary progressive muscular dystrophies.
• congenital non-progressive myopathies
• myotonia
• hereditary paroxysmal myoplegia.

Primary progressive muscular dystrophies or myopathies

Myopathies include a group of diseases that are manifested by muscle weakness and muscle dystrophy, which increase over time. In diseases of this group, it occurs in muscle cells, which leads to atrophy of muscle fibers.

With myopathies, the muscles of the limbs, pelvis, hips, shoulders, torso can be affected, depending on the specific type of disease. The most common are: the youthful form of Erba-Roth, the shoulder-scapular-facial form of Landuzy-Dejerine, the pseudo-hypertrophic form of Duchenne.

In myopathies, muscle strength and muscle tone decrease symmetrically. Pseudohypertrophy often develops - an increase in muscles due to the growth of adipose and connective tissue. Infections, intoxication, stress can accelerate the course of the disease.

Primary progressive muscular dystrophies with an active course, they can lead to disability and complete immobilization.

Secondary progressive muscular dystrophies

With the development of these diseases, the work of peripheral nerves is primarily disrupted. The innervation of the muscles is disturbed, which leads to the occurrence of muscular dystrophies.

Secondary progressive muscular dystrophies include three varieties: congenital, early childhood and late. This classification is based on the time of appearance of the first signs of the disease. Depending on the form of the disease, it proceeds more or less aggressively. Depending on this, people suffering from this kind of genetic abnormalities live up to 9-30 years.

Non-progressive myopathies

Myotonia congenita

Myotonia congenita(Thomsen's disease) is a rare hereditary disease characterized by prolonged tonic muscle spasms that occur after the initial voluntary movements.

etiologists

This group includes diseases also associated with muscle dystrophy. Problems appear immediately at birth. At the same time, the “sluggish child syndrome” is detected - a condition when muscle lethargy, motor inhibition and a lag in the motor development of the child are observed. But non-progressive myopathies differ from other types of hereditary neuromuscular diseases in that the condition does not worsen over time and the disease does not progress.

Myotonia

This group of diseases is characterized by muscle spasms at the beginning of movement. At the beginning of the action, the muscle contracts and cannot relax for 5-30 seconds. After that, gradual relaxation still occurs and the second movement is a little easier to do. But after the rest, everything repeats again.

With this disease, spasm can involve the muscles of the face, trunk, limbs.

Hereditary myotonias include dystrophic myotonia, Thomsen's congenital myotonia, atrophic myotonia, paramyotonia and other diseases.

A fairly simple way to identify myotonia is the "fist" symptom. If you suspect myotonia, the doctor asks you to quickly open your fist. A person suffering from this genetic disease cannot do this quickly and effortlessly. As a test, you can also offer to quickly open your jaws, get up from a chair, or open your squinted eye.

People suffering from myotonia often have an athletic build. This is due to the fact that in these diseases certain muscle groups are hypertrophied. Under the influence of cold and muscle spasm usually increases.

As a rule, a person who "has" myotonia in his genome can coexist with it. Such people just need to choose the right profession, in which there is no need for sudden movements. But there are varieties of myotonia, in which there is a risk of disability or sudden death.

Myoplegia

Another type of hereditary neuromuscular disease is myoplegia. In this case, a characteristic feature of the disease are bouts of muscle weakness. There are several forms of paroxysmal myoplegia: hypokalemic, hyperkalemic and normokalemic.

With this disease in muscle cells, the polarization of membranes is disrupted and the electrolytic properties of muscles change.

At the time of the attack, there is usually a sharp weakness in the muscles of the arms of the legs or torso. Sometimes there may be weakness of the pharynx, larynx, respiratory muscles, which can cause death.

All forms of hereditary neuromuscular diseases are difficult to treat. But modern medicine continues to look for ways to influence genetic diseases. And in the near future, it is possible that effective methods of influencing such genetic diseases will be developed.

By myositis is meant a group of pathological processes in the skeletal muscles that are very different in etiology. In a narrow sense, myositis is an inflammation of the skeletal muscles, that is, the muscle tissue that provides movement of the musculoskeletal system ( rather than the smooth muscles of the internal organs). However, myositis can be not only inflammatory, but also traumatic or toxic.


Myositis can be both an independent disease ( myositis ossificans), and one of the manifestations of other pathologies ( e.g. tuberculosis). Very often, myositis accompanies autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis. One of the most severe forms of myositis is dermatomyositis or Wagner's disease, in which, together with muscle and connective tissue, the skin is affected.

If several muscle groups are affected by myositis, then it is called polymyositis, if one muscle is affected, then it is called local myositis. Together with muscle tissue, the skin can be affected ( dermatomyositis), or nerve fibers ( neuromyositis).

The most common type of myositis is cervical myositis, it accounts for more than half of cases ( 50 - 60 percent). In second place is lumbar myositis, which is the most common cause of back pain.

Today, myositis is considered an office illness. For representatives of "sedentary" professions, the risk of developing this pathology is much higher than for representatives of "mobile" professions. An uncomfortable and forced posture, for example, at a computer for 6-8 hours with a blowing air conditioner behind your back, is fraught with the development of lumbar or cervical myositis.

Some types of myositis are considered professional, for example, in violinists or pianists, which is due to the constant tension of the muscles of the hand, neck or back.
It is believed that more than half of the inhabitants of megacities suffer from various types of myositis.

Causes of myositis

Conventionally, the causes of myositis can be divided into endogenous ( causes within the body) and exogenous ( causes outside the body).

The name "autoimmune" reflects the pathogenesis and nature of the disease. With this pathology, the body itself produces antibodies to its own tissues ( in this case, connective tissue) on which the antigen is fixed. The antigen can be a virus, bacterium, fungus. When the antigen-antibody complex is formed, a cascade of inflammatory reactions is triggered, with further tissue damage. As a rule, myositis of this etiology ( most often it is the so-called rheumatic myositis), has a subacute or chronic course and is characterized by pulling pains.

infections

Most infections occur with the development of myositis. In this case, infection from the main focus ( whether it be tonsils or lungs) is distributed with the blood or lymph to the muscle tissue. Later in the muscle or muscle group) inflammation of a specific or non-specific nature develops.

There are infectious purulent and non-purulent myositis. Non-purulent myositis develops during the period of influenza, various respiratory diseases, syphilis, typhoid fever, tuberculosis. A special form of non-purulent myositis is Bornholm disease or epidemic myalgia. This is an acute infectious disease caused by the Coxsackie enterovirus, which affects the predominant muscular system. The leading symptom of this disease is severe pain in the abdomen and chest with fever.

Purulent myositis develops against the background of a generalized purulent infection ( most often staphylococcal or streptococcal) or osteomyelitis. In this case, the pathogenic microorganism is carried with the blood flow to the muscles, where localized purulent foci are subsequently formed. Thus, accumulations of pus, areas of necrosis and phlegmon are formed in the muscle tissue. Purulent myositis is a very serious disease and requires surgical intervention.

Various intoxications

Myositis can develop as a result of exposure to the body of various toxic substances. Most often, toxic myositis is observed with alcoholism, but also occurs when taking certain medications, poisoning, insect bites.
The mechanism of development of toxic myositis is the direct toxic effect of alcohol, medication or poison.

Have a direct muscle-destroying effect:

• alcohol;
• antimalarial drugs;
• colchicine;
• corticosteroids;
• isoniazid.

Injuries

At the site of injury, a rupture of muscle fibers occurs, with the further development of inflammatory edema. In the future, as the healing progresses, the edema is replaced by scar tissue, and the muscle is shortened.

Also, the result of injuries may be the development of the so-called ossifying myositis. At the same time, in the thickness of the muscle, namely in the area of ​​connective tissue areas, areas of ossification develop.

Constant muscle tension

This reason is typical for professional myositis. As a result of prolonged tension or an uncomfortable position, the muscle tenses and thickens. At the same time, the nutrition process is disturbed in it, since the blood flow in the tense muscle slows down. As a result, impaired blood circulation is the cause of a lack of oxygen and the development of dystrophic processes in the muscle.

hypothermia

Drafts, of course, are the most common cause of myositis. The muscles of the back, lower back and neck are most often affected by hypothermia. At the same time, not only muscles, but also nerve fibers can be involved in the process.

Types of myositis

There are two main forms of myositis - local myositis and polymyositis. Local myositis is characterized by inflammation of one muscle. With polymyositis, the inflammatory process spreads to several muscles or groups of muscles.

Areas where myositis occurs more often are:

• small of the back;
• arms;
• legs;
• maxillofacial area.

Myositis cervical
Myositis of the cervical region occurs more often than in other areas of the body. At the same time, pains appear in the neck, which can spread upwards ( to the back of the head, ears), and down between the shoulder blades. The pain can be so severe that it restricts the movement of the neck.

Myositis in the lumbar region
Myositis in the lumbar region affects the psoas muscles along the spine. The pain is less pronounced than with cervical myositis, and is aching in nature. On palpation of the lumbar region, there is a thickening of the muscles and increased pain. Myositis of the lumbar region is more common among the elderly population.

Myositis of the muscles of the arms and legs
Myositis of the muscles of the arms and legs is rare in the form of local forms. More often, inflammation of the muscles of the extremities is observed with polymyositis. It is difficult for the patient to move his legs, raise his hands above his head. The decrease in strength in the muscles is accompanied by the appearance of pain during their tension.
Myositis of masticatory muscles - often observed in the maxillofacial region. With this form, pain occurs or intensifies when chewing.

Polymyositis is more common than localized forms of myositis.

Polymyositis with signs of dermatitis is called dermatomyositis. Due to the prolonged inflammatory process, the muscles become thinner and atrophy.
Polymyositis is more common in middle-aged people ( 30 - 60 years old). However, there is a separate form of polymyositis, which appears only in children from 5 to 15 years old. The female sex is affected twice as often as the male. The onset of the disease may be preceded by various viral infections, hypothermia, reduced immunity, great physical exertion and injury. The disease develops slowly, over weeks and months. The first manifestation is fatigue and weakness of the muscles of the distal parts of the body ( especially thigh, shoulder and neck muscles). Weakness intensifies and sometimes even turns into moderate pain. All movements are difficult and slow. It is difficult for patients to raise their arms, walk, get up from a chair or bed. Dysphagia appears ( difficulty swallowing), difficulty in breathing and speech. With dermatomyositis, purplish skin rashes appear, which rise slightly above the skin. Damage to the internal organs with polymyositis is rare.

Neuromyositis

Neuromyositis is a form of polymyositis characterized by damage to the muscle fibers and nerves that are located in this area. To a greater extent, intramuscular nerve fibers are affected, but often the distal nerves ( especially when the disease progresses). During inflammation, muscle cells are destroyed and various substances are released that have a toxic effect on nerve fibers. Also, nerve fibers are exposed to T-lymphocytes, which are released during an autoimmune reaction. Under the action of these cells and all components of the inflammatory response, the myelin sheath of the nerve is destroyed. If the process is not stopped, then the axial cylinder of the nerve fiber is soon destroyed.

The main signs of neuromyositis are:

• paresthesia in the affected area ( desensitization);
• hyperesthesia ( sensitization);
• severe pain;
• tension symptoms;
• decreased muscle tone and strength;
• soreness in the joints.

Destruction of the myelin sheath of nerve fibers leads to a violation of skin sensitivity - paresthesia or hyperesthesia. With paresthesia, sensitivity decreases, and numbness and tingling appear. Sometimes nerve damage leads to increased sensitivity.

Pain in neuromyositis progresses. At first, it is moderate, then it increases with small loads. Pain may appear or intensify when breathing, when turning and tilting the body, when moving arms and legs. Gradually, the pain appears even at rest. The pain syndrome is strongly pronounced when the distal parts of the nerves are affected.
Also an important sign of neuromyositis is a symptom of tension. Palpation of muscles in a tense, tense state causes pain. Usually neuromyositis is accompanied by joint pain, less often - skin lesions.

Polyfibromyositis

Polyfibromyositis is another form of polymyositis, the main feature of which is the replacement of muscle tissue with connective tissue.
Due to a prolonged inflammatory process in muscle tissue, muscle cells are destroyed and fibrosed ( replaced by connective tissue cells). In other words, a scar appears at the site of damaged muscle tissue. The scar tissue is compacted in the form of nodules, which are well felt when probing the muscles. With the formation of scar tissue, adhesions between the muscles often form. When scars form near the tendons, various contractures appear and mobility is reduced.

The main signs of polyfibromyositis are:

• compaction of the affected areas of the muscle;
• the formation of nodules;
• contractures and abnormal muscle contractions;
• decrease in range of motion, decreased mobility;
• pain on movement and on palpation of the muscles.

The most characteristic sign of polyfibromyositis is dense nodules in the muscles, which can increase in size or sometimes disappear spontaneously. When they are palpated, pain is noted. Sometimes, on palpation, an uneven consistency of the muscles is felt. When contractures form, the muscles are in constant tension and deform. Constant pressure muscles leads to constant pain, which increases with movement and does not disappear at rest. As a result of these contractures, muscle functions are limited, movements are difficult and slow down.

Myositis ossificans

Myositis ossificans is a very rare form of polymyositis that can develop after injury ( bruises, dislocations, fractures, sprains and tears). It can be the result of both acute injury and chronic muscle damage. So, for example, in riders while riding, the thigh muscles are constantly injured, in swordsmen - the muscles of the chest. There are also cases of a congenital disease that progresses with age. Males aged 30-40 years are more at risk of the disease.

Myositis ossificans develops gradually against the background of fibromyositis. Connective tissue, which replaces damaged muscle fibers, gradually transforms into a heterogeneous mass and is saturated with various minerals and substances. When large amounts of salts of phosphoric acid, potassium, calcium accumulate, the process of ossification begins. Ossified areas of muscle often fuse with nearby bones, deforming the skeleton.

The main signs of polyfibromyositis ossificans myositis are:

• compaction of muscle areas;
• limb deformity;
• decreased mobility;
• the appearance of severe pain, especially when moving.

In the initial stages of the disease, all signs of the inflammatory process in the muscle are present ( pain, swelling, redness of the skin). When the scar begins to ossify, there is a thickening of the muscle. On palpation, hard areas are found that are difficult to distinguish from bone. When these areas fuse with the bones, the limb is deformed. The amplitude of movements decreases to complete immobility in the limb. When trying to move and tense the muscles, severe pain appears, which can be present constantly, even at rest. In the chronic course of the disease, the pain gradually subsides.

Myositis symptoms

Symptoms that indicate myositis are:

• general signs of injury, infection;
• weakness and fatigue;
• pain;
• decreased mobility;
• change in muscle consistency;
• skin changes;
• sensitivity changes;
• the appearance of contractures and abnormal positions of the limbs.

In acute myositis, which develop as a result of injuries, the first signs will be the consequences of these injuries.


In the first days appear:

• hyperemia ( redness) skin;
• edema;
• soreness;
• subcutaneous hemorrhages;
• hematomas;
• sometimes the local temperature rises.

When infections are the trigger viral, bacterial), then the first symptoms will be the general signs of these infections.

When an inflammatory process develops in a muscle, muscle tone is the first to suffer. Muscle fibers lose their ability to quickly and fully contract and relax. The patient feels a growing weakness in the affected part of the body. With myositis of the extremities, it is difficult to raise your arms above your head or move your legs. Weakness can reach such a degree that it becomes difficult for the patient to get up from a chair or bed.

The main characteristic of myositis is pain in the affected muscle or muscle group. The inflammatory process leads to the destruction of muscle fibers and the accumulation of a large amount of active substances in the focus of inflammation, which irritate the nerve endings. Pain varies from moderate to severe, depending on the site of the lesion and the stage of the disease.

With cervical myositis, acute pain appears when turning the head, when chewing. Sometimes it spreads to the back of the head and temples or down into the interscapular region.

With thoracic myositis, pain occurs with movements of the chest ( with deep inhalations and exhalations) and when turning.

Myositis of the lumbar region causes moderate pain, aching character. It is often confused with sciatica. But pain with sciatica is more intense.

Myositis of the extremities causes increased pain when walking, when lifting objects. Often patients try to keep the affected limb in a position that brings less pain.

Any pain increases with movement, with uncomfortable postures, with palpation, with new injuries, with exposure to low temperatures, with changing weather conditions.
In chronic myositis during remission, the pain subsides and may even disappear.

Several factors influence the mobility of the affected area. Firstly, severe pain constrains movement, their amplitude decreases. Secondly, the destruction of a large number of muscle fibers and their replacement with connective tissue reduces muscle elasticity, and, accordingly, contractility also decreases. Movements become slow and incomplete. Also, movements are limited when ossification of the damaged area of ​​the muscle begins. If ossified ( ossified) areas fuse with bones, movements are minimized.

In polymyositis, vital muscle groups can also be affected ( diaphragm, pharyngeal muscles). In this case, it becomes difficult for the patient to swallow, speak and breathe.

Depending on the stage of the process, the consistency of the muscles is different. During inflammation, when muscle fibers are destroyed and various substances accumulate in the intercellular space, the muscle becomes dense and slightly enlarged. When does reabsorption occur? reabsorption) of all these substances, the muscle becomes decrepit, soft. When replacing the muscle structure with connective tissue, palpation reveals slightly compacted nodules, which can increase in size. With myositis ossificans, palpation reveals solid structures that are located in the thickness of the muscles or connected to the bone. With any type of myositis, palpation causes pain.

Often myositis is accompanied by skin changes, and then it is called dermatomyositis. The inflammatory process involves all nearby tissues, especially the skin. Various rashes appear on the skin, reddish and purple. They rise slightly above the surface of the skin, giving it a bumpy appearance.

When intramuscular nerve fibers and distal nerve endings are involved in the inflammatory process, sensitivity changes. Sometimes there is hypersensitivity to any external stimuli.

Violation of the structure of muscle tissue, scarring and ossification leads to shortening of the muscles, changes in shape and the formation of various contractures. Because of this, various curvatures and abnormal body positions appear. With cervical myositis, torticollis appears ( neck curvature), with thoracic myositis - scoliosis.

Diagnosis of myositis

The treatment of myositis is in the competence of such doctors as a neuropathologist, rheumatologist and therapist. Initially, with pain in the back, neck or legs, it is necessary to consult a therapist. Further, depending on the etiology of the disease, the family doctor recommends a consultation with a specialist. So, with myositis due to autoimmune diseases, it is recommended to consult a rheumatologist; with myositis during colds- to the therapist; with neuro- and dermatomyositis - to a neuropathologist.

Diagnosis of myositis, in addition to questioning and examination, may include various laboratory and instrumental examinations, so the patient must be prepared in advance for significant time and material costs.


Diagnosis of myositis includes:

• poll;
• inspection;
• laboratory research ( rheumatic tests);
• instrumental research;
• biopsy.

Poll

Includes data on how the disease began and what preceded it.

The doctor may ask the following questions:

• "What is worrying you at the moment?"
• "What was the first symptom?"
• "Was there a temperature?"
• “Was the disease preceded by hypothermia, injury?”
• “What diseases does the patient still suffer from?”
• “What was the patient sick with a month or a couple of months ago?”
• "What was wrong with you as a child?" ( for example, did you have rheumatic fever as a child?)
• “Are there any hereditary pathologies in the family?”

Inspection

Initially, the doctor visually examines the place of pain. His attention is attracted by the reddening of the skin over the muscle, or vice versa, their blanching. With dermatomyositis on the skin in the area of ​​the extensor surfaces ( joints) form red, scaly nodules and plaques. Nails can attract the attention of a doctor, since one of early signs dermatomyositis is a change in the nail bed ( redness and swelling of the skin). Long-term myositis is accompanied by muscle atrophy. Above the atrophied muscle, the skin is pale with a meager network of blood vessels.

Next, the doctor proceeds to palpation ( feeling) of the affected muscle. This is done to assess muscle tone and identify painful points. In the acute period of the disease, the muscle is tense, as its hypertonicity develops. Hypertonicity is a kind of protective reaction of skeletal muscles, therefore, during colds and stress, the muscle is always tense. For example, with cervical myositis, the muscles are so tense that it makes it difficult for the patient to move. Sometimes swallowing processes may even be disturbed if the inflammatory process has captured most neck muscles.

Muscle soreness can be both general and local. For example, with infectious purulent myositis, local tender points are revealed that correspond to purulent foci. With polyfibromyositis, pain increases towards the joint, that is, at the points of attachment of the muscle.

With polymyositis, the pain syndrome is moderately pronounced, but muscle weakness progresses. AT clinical picture ossifying myositis, the pain is moderate, but the muscles are very dense, and during their palpation, dense areas are revealed. A pronounced pain syndrome is observed with neuromyositis, when nerve fibers are also affected along with muscle tissue.

Rheumatic tests

Rheumoprobes are those tests that are aimed at identifying systemic or local rheumatic diseases.

Such diseases can be:

• rheumatoid arthritis;
• systemic lupus erythematosus;
• polymyositis;
• polyfibromyositis;
• myositis with inclusions and others.

Thus, rheumatic tests help determine the etiology of myositis, confirm or exclude the autoimmune pathogenesis of the disease. Also, with the help of rheumatic tests, the intensity of the inflammatory process is determined.

In the diagnosis of myositis, rheumatic tests include the determination of the following indicators:

• C-reactive protein;
• antistreptolysin-O;
• rheumatic factor;
• antinuclear antibodies ( ANA);
• myositis-specific autoantibodies.

C-reactive protein
An increased concentration of C-reactive protein is observed in various inflammatory processes in the body. C-reactive protein is a marker of the acute phase of inflammation, therefore it is determined in acute infectious myositis or in chronic exacerbations. By determining the level of this protein, one can evaluate the effectiveness of the treatment taken. However, in general, C-reactive protein is only an indicator of the infectious process and does not play an important role in the differential diagnosis of myositis.

Antistreptolysin-O
It is an antibody protein), which is produced in response to the presence of streptococcus in the body, or rather, to the enzyme it produces - streptolysin ( hence the name). It is an important diagnostic criterion for rheumatism and rheumatoid arthritis. Thus, an increased titer of these antibodies speaks in favor of rheumatic myositis.

Rheumofactor
Rheumofactor is an antibody produced by the body against its own proteins ( immunoglobulins). Increased values ​​of the rheumatic factor are observed in autoimmune pathologies, dermatomyositis, rheumatoid seropositive arthritis. However, there are cases when the rheumatic factor is negative. This is seen in seronegative rheumatoid arthritis or in children with juvenile arthritis. An important diagnostic value is the quantitative determination of the rheumatic factor before and after treatment.

Antinuclear antibodies
A family of autoantibodies that binds to the components of its own proteins, namely, to the nuclei of cells. Observed with dermatomyositis, scleroderma and other systemic collagenoses.

Myositis-specific autoantibodies
Myositis-specific autoantibodies ( MSA) are markers of such idiopathic myositis as:

• dermatomyositis;
• polymyositis;
• myositis with inclusions.

MSA - is a group of various antibodies that are produced to various components of cells: mitochondria, some enzymes, cytoplasm.

The most common antibodies are:

• Anti Jo-1 - detected in 90 percent of people suffering from myositis;
• Anti-Mi-2 - seen in 95 percent of people with dermatomyositis;
• Anti-SRP - found in 4 percent of people with myositis.

Biopsy and morphological examination of muscle tissue

A biopsy is a diagnostic method in which pieces of tissue are taken in vivo ( biopsy), followed by their study. The purpose of a biopsy in the diagnosis of myositis is to determine structural changes in the muscle tissue, as well as in the surrounding vessels and connective tissue.

The indications for a biopsy are:

• infectious myositis;
• polymyositis ( and how their variety is dermatomyositis);
• polyfibromyositis.

For polymyositis and its variants ( dermatomyositis, polymyositis with vasculitis) are characterized by inflammatory and degenerative changes: cell infiltration, necrosis of muscle fibers with loss of transverse striation. In polyfibromyositis, muscle tissue is replaced by connective tissue with the development of fibrosis. In infectious myositis, cellular infiltration of the interstitial tissue and small vessels predominates.

Ointments for the treatment of non-purulent infectious myositis

Representatives	Mechanism of action	How is it prescribed
fastum gel ( active substance ketoprofen). Synonyms - fast gel.	has an anti-inflammatory effect, and also has a high analgesic activity	a small amount of gel is applied to the skin over the focus of inflammation ( 5 cm) and rubbed two to three times a day
apizartron ( ointment is not prescribed in acute periods of rheumatic diseases)	mustard oil extract, which is part of the preparation, causes tissue heating, improves local blood flow and relaxes muscles, and also has an anti-inflammatory effect	a strip of ointment in 3 - 5 cm is applied to the inflamed area and slowly rubbed into the skin
Dolobene is a combined preparation that contains dimethyl sulfoxide, heparin and dexpanthenol.	in addition to anti-inflammatory and analgesic effects, it has an anti-exudative effect, that is, it eliminates edema	a column of gel 3 cm long is applied to the focus of inflammation and rubbed with a light movement. The procedure is repeated 3-4 times a day.

With extensive myositis that affects several muscle groups and which is accompanied by fever and other symptoms of a cold, treatment is prescribed in an injection form ( injections).

Injections for the treatment of non-suppurative infectious myositis

Representatives	Mechanism of action	How is it prescribed
diclofenac	has anti-inflammatory and analgesic effect	one shot ( 3 ml) intramuscularly every other day for 5 days.
meloxicam	due to selective inhibition of the formation of inflammatory mediators, it has a pronounced anti-inflammatory effect with minimal side effects	one ampoule ( at 15 mg) per day, intramuscularly for 5 days, then switch to the tablet form of the drug
mydocalm	has a muscle relaxant relaxes tense muscles) action	administered intramuscularly in one ampoule ( 100 mg of substance) twice a day. Thus, the daily dose is 200 mg

Tablets for the treatment of non-purulent infectious myositis

Representatives	Mechanism of action	How is it prescribed
aponyl ( active substance - nimesulide)	like all non-steroidal anti-inflammatory drugs, it has an anti-inflammatory and analgesic effect, and also has an antipyretic effect	the daily dose of the drug is 200 mg, which is equal to 2 tablets of 100 mg, or 4 - 50 mg. The dose is divided into 2 - 4 doses, drinking a tablet with a small amount of water.
traumeel C ( a drug plant origin )	has analgesic and anti-exudative effect	one tablet three times a day. The tablet is placed under the tongue, until completely resorbed.

Most often, the treatment of myositis is combined, that is, medicines are prescribed locally ( in the form of an ointment) and systemically ( in the form of tablets or injections).

Treatment of polymyositis and its forms (dermatomyositis)

The main drugs in the treatment of polymyositis and its form of dermatomyositis are glucocorticosteroids. The drug of choice is prednisolone, which is prescribed in the form of injections in the acute period of the disease.

Injections for the treatment of polymyositis and its form of dermatomyositis

With the ineffectiveness of the therapy, the so-called puls-therapy is carried out, which consists in the introduction of ultra-high doses of glucocorticoids ( 1 - 2 grams) intravenously on short period (3 – 5 days). This therapy is carried out exclusively in a hospital.

Prednisolone tablets are prescribed as maintenance therapy after remission is achieved. Methotrexate and azathioprine are also prescribed in tablet form. These drugs belong to the group of immunosuppressants and are prescribed in the most severe cases and when prednisolone is ineffective.

Tablets for the treatment of polymyositis and its form of dermatomyositis

Representatives	Mechanism of action	How is it prescribed
prednisolone	has anti-inflammatory, anti-allergic and immunosuppressive effects	during maintenance therapy 10-20 mg per day, which is equal to 2-4 tablets of 5 mg. This daily dose is divided into two doses and taken in the morning.
methotrexate	cytotoxic drug that has an immunosuppressive effect	15 mg orally per day is prescribed, gradually increasing the dose to 20 mg. After reaching a dose of 20 mg, they switch to injectable forms of methotrexate.
azathioprine	also has an immunosuppressive effect	is administered orally, starting with 2 mg per kg of body weight per day. Treatment is carried out under the monthly control of a blood test.

Since diffuse inflammation of the muscles is observed in poliomyositis, the appointment of ointments is impractical.

Treatment of ossifying myositis

With ossifying myositis, conservative treatment is effective only at the beginning of the disease, when resorption of calcification is still possible. Basically, the treatment of this type of myositis is reduced to surgical intervention.

Massage and rubbing ointments are contraindicated.

Treatment of polyfibromyositis

Treatment for polyfibromyositis includes anti-inflammatory drugs, lidase injections, massage, and physiotherapy.

Ointments for the treatment of polyfibromyositis

Injections for the treatment of polyfibromyositis

In the form of tablets, anti-inflammatory drugs are prescribed, which are advisable only in the acute phase of the disease.

Tablets for the treatment of polyfibromyositis

Representatives	Mechanism of action	How is it prescribed
butadione	has a pronounced analgesic and anti-inflammatory effect.	150 - 300 mg each ( it's one or two pills) 3-4 times a day 30 minutes after meals.
ibuprofen	has a pronounced anti-inflammatory and analgesic effect.	800 mg each ( it's two tablets of 400 mg or one of 800) two to four times a day. In this case, the daily dose should not exceed 2400 mg, that is, 6 tablets of 400 mg, or 3 of 800.

Treatment of purulent infectious myositis

Includes the use of antibiotics, painkillers, and antipyretics. In some cases, surgery is indicated.

Ointments with their subsequent rubbing over the affected surface are contraindicated, as they can contribute to the spread of the purulent process to healthy tissues.

Injections for the treatment of purulent infectious myositis

Representatives	Mechanism of action	How is it prescribed
penicillin	It has a bactericidal effect by inhibiting the synthesis of the cell wall of microorganisms. Active as for gram-positive, as well as for Gram-negative bacteria	intramuscularly at 300.000 IU. 4 times a day ( every 6 hours)
tetracycline		intramuscularly at 200.000 IU. 3 times a day ( every 8 hours)
cefazolin	has a wide range antimicrobial action	intramuscularly 1 gram 4 times a day ( every 6 hours)

Tablets for the treatment of purulent infectious myositis

Treatment of myositis in autoimmune diseases

In parallel with the treatment of the underlying disease, which is accompanied by myositis ( systemic lupus erythematosus, scleroderma) symptomatic therapy of myositis is carried out. It consists in taking painkillers and anti-inflammatory drugs; in the acute phase, a pastel regimen is observed.

Ointments for the treatment of myositis in autoimmune diseases

Representatives	Mechanism of action	How is it prescribed
nise gel	nimesulide, which is part of the ointment, has an analgesic and analgesic effect	without rubbing the gel is applied in a thin layer on the area of ​​​​soreness. The procedure is repeated 2 to 4 times a day.
voltaren ointment and gel ( active substance diclofenac)	has a pronounced anti-inflammatory effect, also eliminates pain	1 g ointment ( a pea the size of a hazelnut) is applied over the focus of inflammation, rubbed into the skin 2-3 times a day. Single dose - 2 grams.
finalgel		1 g of gel is applied to the skin over the affected area and gently rubbed. The procedure is repeated 3-4 times a day.

Injections for the treatment of myositis in autoimmune diseases

Representatives	Mechanism of action	How is it prescribed
ambene	a combination drug that, in addition to anti-inflammatory action, produces an antirheumatic effect.	one injection ( one injection includes 2 ml of solution A and 1 ml of solution B) intramuscularly every other day. The course of treatment is 3 injections, after which they take a break of 3-4 weeks, and then the course can be repeated.
baralgin M	in addition to analgesic and anti-inflammatory action produces antispasmodic ( relaxing) Effect.	administered intramuscularly in one injection ( 5 ml) one to two times a day. The maximum daily dose is 10 ml ( 2 injections).

Tablets for the treatment of myositis in autoimmune diseases

Representatives	Mechanism of action	How is it prescribed
ketoprofen	produces analgesic and anti-inflammatory effect	in the acute period of the disease, a dose of 300 mg per day is prescribed, which is equal to 3 tablets of 100 mg. During maintenance therapy, 150-200 mg per day is prescribed.
nurofen	has a powerful analgesic effect	400 - 800 mg is prescribed 3 to 4 times a day.
flugalin	has anti-inflammatory and analgesic effects.	inside one tablet 2-4 times a day after meals with a small amount of food. The course of treatment is 2 - 3 weeks.

Treatment of myositis with folk remedies

Therapy of myositis with folk remedies consists in the use of ointments, oils, solutions and tinctures for alcohol for rubbing. Anti-inflammatory compresses and heat isolation of the affected muscle area are widely used. Carrying out these manipulations requires limiting motor activity and maximizing rest. With pain syndrome with myositis, herbal infusions help to cope, before using which you should consult with your doctor.


To avoid the occurrence allergic reactions with external use of folk remedies, a test should be performed before treatment. Testing consists in applying the prepared composition to a small area of ​​\u200b\u200bthe skin. In case of redness, blisters or rashes, you should stop using the selected recipe.

Compresses

To relieve muscle pain in traditional medicine is used:

• cabbage compress;
• boiled potato compress;
• compresses using plants such as chamomile, sweet clover, linden, horsetail.

Cabbage compress
For this procedure, you will need: 2 tablespoons of baking soda, 2 leaves of white cabbage, baby soap. Cabbage should be peeled hot water, in which 1 tablespoon of soda was previously dissolved. Next, you need to lather the leaves with soap, sprinkle with the remaining amount of soda and apply to the place that bothers you. To enhance the effect on the area of ​​\u200b\u200bthe sore muscle, a warming bandage should be applied. The duration of the compress is 30 - 40 minutes.

Boiled potato compress
Another recipe for myositis is a boiled potato compress, for which you will need: 3-5 potatoes boiled in their skins, cologne, a warm scarf, a clean cloth. Mash the potatoes and apply through 2 layers of tissue to the sore spot, then wrap the potato compress with a scarf. The action of the compress can be extended by gradually removing the tissue layers. After the potato has cooled, the mass should be removed, and the area that causes discomfort should be rubbed using cologne. This procedure it is best to spend at night in order to give warm muscles a rest.

Herbal compresses
Compresses with the use of such plants as chamomile, sweet clover, linden, horsetail have a positive effect. Dry plants should be put in a gauze bag, steamed with boiling water and provide a sufficient amount of heat by covering with polyethylene and wrapping the affected area well. Compliance with all recommendations when applying compresses according to traditional medicine recipes allows you to achieve a positive effect and significantly reduce muscle pain.

Ointments

Rubbing ointments prepared at home has a positive effect, reducing pain. Also, ointments are used as the main ingredient in compresses, which should be done at night, providing good thermal insulation.

Ginseng ointment
In order to prepare ginseng ointment, you will need: 20 grams of table salt, 20 grams of dried ginseng root, 100 grams of bear fat ( sold in a pharmacy), which can be replaced with goose or pork fat. Ginseng root should be crushed and mixed with melted fat and salt in a water bath. The resulting composition should be rubbed on sore spots, using spiral or rectilinear movements from the bottom up.

Ointment based on field horsetail and interior lard
You should take 20 grams of dried grass and 80 grams of fatty base and grind the mass in a glass or plastic bowl. The resulting product is rubbed into the areas that bother you. Also as an ingredient for making ointments based on lard or butter you can use plants such as lavender, eucalyptus leaves, peppermint, sage, celandine.

Tinctures

Alcohol-based tinctures with the addition of various herbal ingredients are used as a means for rubbing in the treatment of myositis. Tinctures have anti-inflammatory, antibacterial and analgesic effects.

Onion and camphor oil tincture
In order to prepare this remedy, you need to take 2 large onions, 125 milliliters ( half a glass) 70% medical alcohol and 1 liter of camphor oil. Onions should be chopped and combined with alcohol. After two hours, add oil to the resulting mass and leave to infuse for ten days, excluding light. The composition can be used as a means for rubbing and compresses.

Lilac flower tincture
You will need 100 grams of fresh lilac and 500 milliliters ( two glasses) 70 percent medical alcohol. The flowers are filled with alcohol and stored for a week in a dark place. Use for compresses and rubbing once a day. Also, dry or fresh chamomile, bodyagi powder can be used as ingredients for the preparation of tinctures. One of the advantages of tinctures is their long shelf life.

Oils

Oils made according to traditional medicine recipes are used for massages and rubbing in case of exacerbations with myositis. Oils have a relaxing and warming effect on the muscles, helping to reduce the level of pain.

Pepper oil
In order to cook it, you should take two small pods of hot pepper and 200 milliliters vegetable oil. Pepper must be crushed with a knife or meat grinder along with seeds and pour oil. Pour the composition into glassware and store in a dark place for 7-10 days. As pain occurs, you need to rub pepper oil into sore spots, taking precautions, since, once on the mucous membrane, the composition can cause a strong burning sensation.

herbal oil
To make herbal oil you will need:

• 700 milliliters ( three glasses) unrefined vegetable oil;
• 2 tablespoons of birch mushroom;
• one tablespoon of such plants as calamus root, adonis grass, immortelle, St.

These herbs should be purchased in a pharmacy in dry form, and in the absence of one or more positions, the existing ingredients should be proportionally increased. birch mushroom soak in water, then grind with a meat grinder. Grind the rest of the ingredients in a coffee grinder to a powder. Connect all the components, then place them in a large container. The volume of dishes should be chosen so that the mass occupies no more than one third of the entire space. Then, for one month, you need to store the composition in a dark place, shaking it periodically. At the end of this period, the oil should be drained and heated in a water bath to a temperature not exceeding 60°C. Pour the filtered oil into a dark glass dish and return to a dark place for a week. The resulting herbal oil should be rubbed into the affected areas, adhering to the following scheme: alternate 10 procedures every other day, pause for 15-20 days, and then repeat the ten-day course every other day. You can return to treatment with herbal oil again after 40 days and then you should take a long break for six months.

Decoctions

In the treatment of myositis, decoctions prepared on the basis of medicinal herbs, are taken orally in accordance with the instructions given in the recipe. The main effect of decoctions is their sedative effect on the body. Also, herbal infusions help reduce inflammation and reduce pain.

Decoction of physalis fruit
To prepare it, you will need: 20 pieces of fresh or 20 grams of dry physalis fruits, 500 milliliters of distilled water. The fruits are poured with liquid and brought to a boil. After that, continue boiling over low heat for 15 - 20 minutes. Next, you should remove the decoction, strain, cool and take a quarter cup, 4-5 times a day, before meals. After a month, you should take a break for 10 days, then continue treatment.

Willow bark decoction
In order to prepare this remedy, you should take 1 tablespoon of willow bark and pour a glass of water. Next, place the composition in a water bath and bring to a boil. The resulting amount of decoction should be divided into 5 parts, which should be consumed during the day. You need to continue the course for 40 days, after which you should take a break for two weeks.

Prevention of myositis

What do we have to do?

For the prevention of myositis, it is necessary:

• follow a balanced diet;
• follow water regime;
• lead an active lifestyle, but at the same time avoid excessive physical exertion;
• timely treat colds and other infectious diseases (you can not endure diseases on the legs and allow their complications).

Diet
Fatty polyunsaturated acids help to prevent the inflammatory process in the muscles.

A sufficient amount of polyunsaturated acids is found in:

• salmon species ( salmon, pink salmon, chum salmon);
• herring;
• halibut;
• tuna.

For the prevention of myositis, foods with a high content of salicylates are also useful.

These products include:

• carrot;
• beet;
• potato.

Easily digestible proteins help to increase the resistance of the body, for which you should include soy, chicken, almonds in the diet. Also on the menu should be foods with a high content of calcium ( dairy products, parsley, celery, gooseberry, currant). Cereals, legumes and cereals are necessary in view of the sufficient amount of magnesium in their composition.

Water regime
Drinking regimen is very important in the prevention of myositis. The amount of liquid drunk per day should not be less than two liters. In addition to weak green tea, you should diversify your drinking with fruit drinks and compotes. Rosehip decoction helps to reduce swelling in the tissues.

Physical activity
To prevent myositis, the following points should be followed:

• spend more time outdoors
• alternate physical activity with rest;
• harden the body;
• monitor posture;
• when working at a computer for a long time, do gymnastics for the muscles of the back and neck every hour.

Help prevent myositis sports such as swimming, gymnastics, cycling.

What should be avoided?

For the prevention of myositis should be excluded:

• passive lifestyle;
• long-term load on one muscle group;
• stay in drafts;
• hypothermia of the body.

Head of
"Oncogenetics"

Zhusina
Julia Gennadievna

Graduated from the Pediatric Faculty of the Voronezh State Medical University. N.N. Burdenko in 2014.

2015 - internship in therapy on the basis of the Department of Faculty Therapy of the Voronezh State Medical University. N.N. Burdenko.

2015 - certification course in the specialty "Hematology" on the basis of the Hematological Research Center in Moscow.

2015-2016 – therapist of the VGKBSMP No. 1.

2016 - the topic of the dissertation for the competition was approved degree candidate of medical sciences "study of the clinical course of the disease and prognosis in patients with chronic obstructive pulmonary disease with anemic syndrome." Co-author of more than 10 publications. Participant of scientific and practical conferences on genetics and oncology.

2017 - advanced training course on the topic: "interpretation of the results of genetic studies in patients with hereditary diseases."

Since 2017 residency in the specialty "Genetics" on the basis of RMANPO.

Head of
"Genetics"

Kanivets
Ilya Vyacheslavovich

Kanivets Ilya Vyacheslavovich, geneticist, candidate of medical sciences, head of the genetics department of the medical genetic center Genomed. Assistant of the Department of Medical Genetics of the Russian Medical Academy of Continuous Professional Education.

He graduated from the Faculty of Medicine of the Moscow State University of Medicine and Dentistry in 2009, and in 2011 - residency in the specialty "Genetics" at the Department of Medical Genetics of the same university. In 2017, he defended his thesis for the degree of candidate of medical sciences on the topic: Molecular diagnosis of copy number variations of DNA segments (CNVs) in children with congenital malformations, phenotype anomalies and/or mental retardation using high-density SNP oligonucleotide microarrays»

From 2011-2017 he worked as a geneticist at the Children's Clinical Hospital. N.F. Filatov, scientific advisory department of the Federal State Budgetary Scientific Institution "Medical Genetic Research Center". From 2014 to the present, he has been in charge of the genetics department of the MHC Genomed.

Main areas of activity: diagnosis and management of patients with hereditary diseases and congenital malformations, epilepsy, medical genetic counseling of families in which a child was born with a hereditary pathology or malformations, prenatal diagnostics. During the consultation, an analysis of clinical data and genealogy is carried out to determine the clinical hypothesis and the required amount of genetic testing. Based on the results of the survey, the data are interpreted and the information received is explained to the consultants.

He is one of the founders of the School of Genetics project. Regularly makes presentations at conferences. He lectures for geneticists, neurologists and obstetricians-gynecologists, as well as for parents of patients with hereditary diseases. He is the author and co-author of more than 20 articles and reviews in Russian and foreign journals.

The area of ​​professional interests is the introduction of modern genome-wide studies into clinical practice, the interpretation of their results.

Reception time: Wed, Fri 16-19

Head of
"Neurology"

Sharkov
Artem Alekseevich

Sharkov Artyom Alekseevich– neurologist, epileptologist

In 2012, he studied under the international program “Oriental medicine” at Daegu Haanu University in South Korea.

Since 2012 - participation in the organization of the database and algorithm for the interpretation of xGenCloud genetic tests (http://www.xgencloud.com/, Project Manager - Igor Ugarov)

In 2013 he graduated from the Pediatric Faculty of the Russian National Research Medical University named after N.I. Pirogov.

From 2013 to 2015 he studied in clinical residency in neurology at the Federal State Budget Scientific Institution "Scientific Center of Neurology".

Since 2015, he has been working as a neurologist, researcher at the Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev GBOU VPO RNIMU them. N.I. Pirogov. He also works as a neurologist and a doctor in the laboratory of video-EEG monitoring in the clinics of the Center for Epileptology and Neurology named after A.I. A.A. Ghazaryan” and “Epilepsy Center”.

In 2015, he studied in Italy at the school "2nd International Residential Course on Drug Resistant Epilepsies, ILAE, 2015".

In 2015, advanced training - "Clinical and molecular genetics for practicing physicians", RCCH, RUSNANO.

In 2016, advanced training - "Fundamentals of Molecular Genetics" under the guidance of bioinformatics, Ph.D. Konovalova F.A.

Since 2016 - the head of the neurological direction of the laboratory "Genomed".

In 2016, he studied in Italy at the school "San Servolo international advanced course: Brain Exploration and Epilepsy Surger, ILAE, 2016".

In 2016, advanced training - "Innovative genetic technologies for doctors", "Institute of Laboratory Medicine".

In 2017 - the school "NGS in Medical Genetics 2017", Moscow State Scientific Center

Currently, he is conducting scientific research in the field of epilepsy genetics under the guidance of Professor, MD. Belousova E.D. and professor, d.m.s. Dadali E.L.

The topic of the dissertation for the degree of Candidate of Medical Sciences "Clinical and genetic characteristics of monogenic variants of early epileptic encephalopathies" was approved.

The main areas of activity are the diagnosis and treatment of epilepsy in children and adults. Narrow specialization - surgical treatment of epilepsy, genetics of epilepsy. Neurogenetics.

Scientific publications

Sharkov A., Sharkova I., Golovteev A., Ugarov I. "Optimization of differential diagnostics and interpretation of results of genetic testing by XGenCloud expert system in some forms of epilepsy". Medical Genetics, No. 4, 2015, p. 41.
*
Sharkov A.A., Vorobyov A.N., Troitsky A.A., Savkina I.S., Dorofeeva M.Yu., Melikyan A.G., Golovteev A.L. "Surgery for epilepsy in multifocal brain lesions in children with tuberous sclerosis." Abstracts of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.226-227.
*
Dadali E.L., Belousova E.D., Sharkov A.A. "Molecular genetic approaches to the diagnosis of monogenic idiopathic and symptomatic epilepsy". Abstract of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.221.
*
Sharkov A.A., Dadali E.L., Sharkova I.V. "A rare variant of type 2 early epileptic encephalopathy caused by mutations in the CDKL5 gene in a male patient." Conference "Epileptology in the system of neurosciences". Collection of conference materials: / Edited by: prof. Neznanova N.G., prof. Mikhailova V.A. St. Petersburg: 2015. - p. 210-212.
*
Dadali E.L., Sharkov A.A., Kanivets I.V., Gundorova P., Fominykh V.V., Sharkova I.V. Troitsky A.A., Golovteev A.L., Polyakov A.V. A new allelic variant of type 3 myoclonus epilepsy caused by mutations in the KCTD7 gene // Medical genetics.-2015.- v.14.-№9.- p.44-47
*
Dadali E.L., Sharkova I.V., Sharkov A.A., Akimova I.A. "Clinical and genetic features and modern methods of diagnosing hereditary epilepsy". Collection of materials "Molecular biological technologies in medical practice" / Ed. corresponding member RANEN A.B. Maslennikova.- Issue. 24.- Novosibirsk: Academizdat, 2016.- 262: p. 52-63
*
Belousova E.D., Dorofeeva M.Yu., Sharkov A.A. Epilepsy in tuberous sclerosis. In "Diseases of the brain, medical and social aspects"edited by Gusev E.I., Gekht A.B., Moscow; 2016; pp. 391-399
*
Dadali E.L., Sharkov A.A., Sharkova I.V., Kanivets I.V., Konovalov F.A., Akimova I.A. hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and diagnostic methods. //Russian Journal of Children's Neurology.- T. 11.- No. 2, p. 33-41. doi: 10.17650/ 2073-8803-2016-11-2-33-41
*
Sharkov A.A., Konovalov F.A., Sharkova I.V., Belousova E.D., Dadali E.L. Molecular genetic approaches to the diagnosis of epileptic encephalopathies. Collection of abstracts "VI BALTIC CONGRESS ON CHILDREN'S NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 391
*
Hemispherotomy in drug-resistant epilepsy in children with bilateral brain damage Zubkova N.S., Altunina G.E., Zemlyansky M.Yu., Troitsky A.A., Sharkov A.A., Golovteev A.L. Collection of abstracts "VI BALTIC CONGRESS ON CHILDREN'S NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 157.
*
*
Article: Genetics and differentiated treatment of early epileptic encephalopathies. A.A. Sharkov*, I.V. Sharkova, E.D. Belousova, E.L. Dadali. Journal of Neurology and Psychiatry, 9, 2016; Issue. 2doi:10.17116/jnevro20161169267-73
*
Golovteev A.L., Sharkov A.A., Troitsky A.A., Altunina G.E., Zemlyansky M.Yu., Kopachev D.N., Dorofeeva M.Yu. "Surgical treatment of epilepsy in tuberous sclerosis" edited by Dorofeeva M.Yu., Moscow; 2017; p.274
*
New international classifications of epilepsy and epileptic seizures of the International League against epilepsy. Journal of Neurology and Psychiatry. C.C. Korsakov. 2017. V. 117. No. 7. S. 99-106

Department head
"Genetics of predispositions",
biologist, genetic consultant

Dudurich
Vasilisa Valerievna

- Head of the Department "Genetics of predispositions", biologist, genetic consultant

In 2010 - PR-specialist, Far Eastern Institute of International Relations

In 2011 - Biologist, Far Eastern Federal University

In 2012 - FGBUN SRI FCM FMBF of Russia "Genodiagnosis in modern medicine"

In 2012 - Study "Introduction of genetic testing in a general clinic"

In 2012 - Professional training "Prenatal diagnosis and genetic passport - the basis of preventive medicine in the age of nanotechnology" D.I.

In 2013 - Professional training "Genetics in clinical hemostasiology and hemorheology" of the Bakulev Scientific Center for Cardiovascular Surgery

In 2015 - Professional training within the framework of the VII Congress of the Russian Society of Medical Genetics

In 2016 - School of Data Analysis "NGS in Medical Practice" FGBNU "MGNTS"

In 2016 - Internship "Genetic Counseling" FGBNU "MGNTS"

In 2016 - Took part in the International Congress on Human Genetics, Kyoto, Japan

From 2013-2016 - Head of the Medical Genetic Center in Khabarovsk

From 2015-2016 - Lecturer at the Department of Biology at the Far Eastern State Medical University

From 2016-2018 - Secretary of the Khabarovsk branch of the Russian Society of Medical Genetics

In 2018 – Took part in the seminar "Reproductive potential of Russia: versions and counter-versions" Sochi, Russia

Organizer of the school-seminar "The era of genetics and bioinformatics: an interdisciplinary approach in science and practice" - 2013, 2014, 2015, 2016

Experience as a genetic consultant - 7 years

Founder Charitable Foundation named after Queen Alexandra to help children with genetic pathology alixfond.ru

Area of ​​professional interests: myrobiome, multifactorial pathology, pharmacogenetics, nutrigenetics, reproductive genetics, epigenetics.

Head of
"Prenatal Diagnosis"

Kyiv
Yulia Kirillovna

In 2011 she graduated from the Moscow State Medical and Dental University. A.I. Evdokimova with a degree in General Medicine Studied in residency at the Department of Medical Genetics of the same university with a degree in Genetics

In 2015, she completed an internship in Obstetrics and Gynecology at the Medical Institute for Postgraduate Medical Education of the Federal State Budgetary Educational Institution of Higher Professional Education "MGUPP"

Since 2013, he has been conducting a consultative appointment at the Center for Family Planning and Reproduction, DZM

Since 2017, he has been the head of the Prenatal Diagnostics department of the Genomed laboratory

Regularly makes presentations at conferences and seminars. Reads lectures for doctors of various specialties in the field of reproduction and prenatal diagnostics

Conducts medical genetic counseling for pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations, as well as families with presumably hereditary or congenital pathologies. Conducts interpretation of the obtained results of DNA diagnostics.

SPECIALISTS

Latypov
Artur Shamilevich

Latypov Artur Shamilevich – doctor geneticist of the highest qualification category.

After graduating from the medical faculty of the Kazan State Medical Institute in 1976, for many years he worked first as a doctor in the office of medical genetics, then as head of the medical genetic center of the Republican Hospital of Tatarstan, chief specialist of the Ministry of Health of the Republic of Tatarstan, teacher at the departments of Kazan Medical University.

Author of more than 20 scientific papers on the problems of reproductive and biochemical genetics, participant in many domestic and international congresses and conferences on the problems of medical genetics. Introduced methods of mass screening of pregnant women and newborns for hereditary diseases into the practical work of the center, performed thousands of invasive procedures for suspected hereditary diseases of the fetus on different terms pregnancy.

Since 2012 she has been working at the Department of Medical Genetics with a course of prenatal diagnostics Russian Academy postgraduate education.

Research interests – metabolic diseases in children, prenatal diagnostics.

Reception time: Wed 12-15, Sat 10-14

Doctors are admitted by appointment.

Geneticist

Gabelko
Denis Igorevich

In 2009 he graduated from the medical faculty of KSMU named after. S. V. Kurashova (specialty "Medicine").

Internship at the St. Petersburg Medical Academy of Postgraduate Education of the Federal Agency for Health and social development(specialty "Genetics").

Internship in Therapy. Primary retraining in the specialty "Ultrasound diagnostics". Since 2016, he has been an employee of the Department of the Department of Fundamental Foundations of Clinical Medicine of the Institute of Fundamental Medicine and Biology.

Area of ​​professional interests: prenatal diagnosis, the use of modern screening and diagnostic methods to identify the genetic pathology of the fetus. Determining the risk of recurrence of hereditary diseases in the family.

Participant of scientific and practical conferences on genetics and obstetrics and gynecology.

Work experience 5 years.

Consultation by appointment

Doctors are admitted by appointment.

Geneticist

Grishina
Christina Alexandrovna

In 2015 she graduated from the Moscow State Medical and Dental University with a degree in General Medicine. In the same year, she entered residency in the specialty 30.08.30 "Genetics" at the Federal State Budgetary Scientific Institution "Medical Genetic Research Center".
She was hired in the Laboratory of Molecular Genetics of Complexly Inherited Diseases (Head - Doctor of Biological Sciences Karpukhin A.V.) in March 2015 as a research laboratory assistant. From September 2015 she was transferred to the position researcher. He is the author and co-author of more than 10 articles and abstracts on clinical genetics, oncogenetics and molecular oncology in Russian and foreign journals. Regular participant of conferences on medical genetics.

Area of ​​scientific and practical interests: medical genetic counseling of patients with hereditary syndromic and multifactorial pathology.

Consultation with a geneticist allows you to answer the following questions:

Are the child's symptoms signs of a hereditary disease? what research is needed to identify the cause definition accurate forecast recommendations for conducting and evaluating the results of prenatal diagnosis everything you need to know about family planning IVF planning consultation field and online consultations

Geneticist

Gorgisheli
Ketevan Vazhaevna

She is a graduate of the Faculty of Medicine and Biology of the Russian National Research Medical University named after N.I. Pirogov in 2015, defended her thesis on the topic "Clinical and morphological correlation of vital indicators of the state of the body and morphological and functional characteristics of blood mononuclear cells in severe poisoning." She graduated from clinical residency in the specialty "Genetics" at the Department of Molecular and Cellular Genetics of the aforementioned university.

participated in the scientific-practical school "Innovative genetic technologies for doctors: application in clinical practice", the conference of the European Society of Human Genetics (ESHG) and other conferences dedicated to human genetics.

Conducts medical genetic counseling for families with presumably hereditary or congenital pathologies, including monogenic diseases and chromosomal abnormalities, determines indications for laboratory genetic studies, interprets the results of DNA diagnostics. Advises pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations.

Geneticist, obstetrician-gynecologist, candidate of medical sciences

Kudryavtseva
Elena Vladimirovna

Geneticist, obstetrician-gynecologist, candidate of medical sciences.

Specialist in the field of reproductive counseling and hereditary pathology.

Graduated from the Ural State Medical Academy in 2005.

Residency in Obstetrics and Gynecology

Internship in the specialty "Genetics"

Professional retraining in the specialty "Ultrasound diagnostics"

Activities:

• Infertility and miscarriage
Vasilisa Yurievna



She is a graduate of the Nizhny Novgorod State Medical Academy, Faculty of Medicine (specialty "Medicine"). She graduated from the clinical internship of the FBGNU "MGNTS" with a degree in "Genetics". In 2014, she completed an internship at the clinic of motherhood and childhood (IRCCS materno infantile Burlo Garofolo, Trieste, Italy).

Since 2016, she has been working as a consultant doctor at Genomed LLC.

Regularly participates in scientific and practical conferences on genetics.

Main activities: Consulting on clinical and laboratory diagnostics genetic diseases and interpretation of results. Management of patients and their families with suspected hereditary pathology. Consulting when planning a pregnancy, as well as during pregnancy on the issues of prenatal diagnosis in order to prevent the birth of children with congenital pathology.

In the period from 2013 to 2014, she worked as a junior researcher at the Laboratory of Molecular Oncology of the Rostov Cancer Research Institute.

In 2013 - advanced training "Topical issues of clinical genetics", State Budgetary Educational Institution of Higher Professional Education Rost State Medical University of the Ministry of Health of Russia.

In 2014 - advanced training "Application of the real-time PCR method for gene diagnostics of somatic mutations", FBSI "Central Research Institute of Epidemiology of Rospotrebnadzor".

Since 2014 – geneticist at the Laboratory of Medical Genetics, Rostov State Medical University.

In 2015, she successfully confirmed the qualification of "Medical Laboratory Scientist". He is an active member of the Australian Institute of Medical Scientist.

In 2017 - advanced training "Interpretation of the results of genetic studies in patients with hereditary diseases", NOCHUDPO "Training Center for Continuing Medical and Pharmaceutical Education"; "Actual Issues of Clinical Laboratory Diagnostics and Laboratory Genetics", Federal Budgetary Educational Institution of Higher Education of Rostov State Medical University of the Ministry of Health of Russia; advanced training "BRCA Liverpool Genetic Counseling Course", Liverpool University.

Participates regularly in scientific conferences, is the author and co-author of more than 20 scientific publications in domestic and foreign publications.

Main activity: clinical and laboratory interpretation of the results of DNA diagnostics, chromosomal microarray analysis, NGS.

Area of ​​interest: application of the latest genome-wide diagnostic methods in clinical practice, oncogenetics.

The anatomical and histological unit of the striated skeletal muscle is a fiber that, under a microscope, looks like a long cylindrical cell with numerous nuclei distributed along its entire length. Numerous parallel fibers are combined into a bundle visible to the naked eye. The functional unit of skeletal muscle is the motor unit, which includes: (1) the anterior horn cell, whose body is located in the ventral gray matter of the spinal cord; (2) its axon, which emerges from the spinal cord from the ventral side and enters into the peripheral nerve covered with myelin sheath; (3) several "target" muscle fibers that make up one bundle. Thus, the minimum natural manifestation of muscle activity is the functioning of one motor neuron, causing the contraction of the corresponding muscle fibers.

How is fibrillation different from muscle fasciculation?

Fibrillation is the spontaneous contraction of a single muscle fiber. Fibrillation does not result in muscle contraction and cannot be seen through the skin (rarely, it can be seen in the muscles of the tongue). It is detected by electromyographic examination as an irregular asynchronous short (1-5 ms) low-voltage (20-300 μV) discharge in the muscle (as a rule, 1-30 discharges occur in 1 s). Fibrillation usually occurs with injury to the corpus or axon of a motor neuron, but can also be seen in primary muscle disorders such as myopathy.

Fasciculation is a spontaneous, relatively synchronous contraction of muscle fibers within one bundle, that is, a contraction of muscle fibers that make up one motor unit. In this case, muscle contraction visible through the skin can be observed. An electromyographic study reveals a discharge that is longer (8–20 ms) and higher voltage (2–6 mV) than the discharge during fibrillation. Fasciculations occur at irregular intervals with a frequency of 1-50/min. Benign fasciculations of the muscles of the lower leg and small muscles of the hands and feet can occur in healthy people. For primary muscle disorders, fasciculation is not characteristic. Most often, it is associated with denervation and is especially pronounced when cells of the anterior horn are affected, for example, in Werdnig-Hoffman disease.

What are the causes of acute general weakness?

Infection and convalescence in the post-infection period: acute infectious myositis, Guillain-Barré syndrome, enterovirus infection.

Metabolic disorders: acute intermittent porphyria, congenital tyrosinemia.

Neuromuscular blockade: botulism, tick paralysis.

Periodic paralysis: familial (hyperkalemic, hypokalemic, normokalemic).

If the child has muscle weakness, what findings from the history and physical examination support myopathy?

Anamnesis:
- Gradual development of the disease.
- Muscle weakness is more pronounced in the proximal regions (this is noticeable, for example, when climbing stairs and running), while weakness in the distal regions is characteristic of neuropathy.
- Absence of sensory disturbances, such as a tingling sensation.
- Absence of anomalies in the development of the intestines and bladder.

Physical examination:
- The more proximal, the more pronounced muscle weakness (exception - myotonic dystrophy).
- A positive sign of Gowers (the patient, getting up from a sitting position and straightening, leans his hands on his hips due to weakness of the muscles of the pelvic girdle and lower extremities).
- The flexors of the neck are weaker than the extensors.
- In the early stages, normal or somewhat weakened reflexes are noted.
- Normal sensitivity.
- There is muscle atrophy, but no fasciculations.
- In some dystrophies, muscle hypertrophy is observed.

How does an electromyographic study help to differentiate between myopathic and neurogenic disorders?

An electromyographic study measures the electrical activity of muscles at rest and during voluntary movements. Normally, action potentials have a standard duration and amplitude and characteristic 2-4 phases. With myopathies, their duration and amplitude decrease, with neuropathies they increase. In both disorders, extraphases (polyphasic units) are noted.

What is the difference between pseudoparalysis and true neuromuscular pathology?

Pseudo-paralysis (hysterical paralysis) can be observed in conversion reactions (i.e., in the physical expression of an emotional conflict). During conversion reactions, sensitivity is not disturbed, deep tendon reflexes and the Babinsky reflex are preserved. There may be movements during sleep. With unilateral paralysis, the Hoover test helps. The doctor puts his hand under the heel of the healthy leg of the patient lying on his back and asks to raise the sore leg. With pseudoparalysis, the patient does not press the heel on the doctor's hand.

What is the differential diagnosis for muscle hypotension?

Muscular hypotension is a common but non-specific sign in newborns and children under 1 year of age. Hypotension can:

1) be a non-specific sign of any acute pathology (sepsis, shock, dehydration, hypoglycemia);

2) be considered as a sign of chromosomal abnormalities underlying, for example, Down syndrome;

3) indicate the pathology of the connective tissue, which is associated with excessive joint mobility;

4) occur with metabolic encephalopathy that develops with hypothyroidism, Lowe's syndrome, Canavan's disease;

5) indicate a disease of the central nervous system - dysfunction of the cerebellum, acute pathology of the spinal cord, neuromuscular pathology, hypotonic form of cerebral palsy or benign congenital hypotension.

In the absence of signs of acute encephalopathy in the differential diagnosis of hypotension, it is necessary first of all to answer the following question: is the patient strong enough, despite hypotension, or is he weak and hypotonic? The combination of weakness and hypotension indicates pathology of the anterior horn cells or peripheral neuromuscular apparatus, while hypotension while maintaining strength in a patient is more likely to be characteristic of diseases of the brain or spinal cord.

What are the clinical manifestations of myotonia?

Myotonia is a painless tonic spasm or delayed muscle relaxation after contraction. Myotonia can be detected when squeezing (when shaking hands), it is indicated by intense squinting (or a delay in opening the eyes in a crying child), a delay in lifting the eyelid when looking up; myotonia can also be detected with percussion in certain areas (in the area of ​​\u200b\u200bthe eminence at the base of the thumb or tongue).

The newborn has weakness and muscle hypotension. Presence of what pathologies of pregnancy and childbirth in anamnesis can suggest myotonic dystrophy?

Spontaneous miscarriages in the history of the mother, polyhydramniosis, increased fetal motor activity, prolonged second stage of labor, retained placenta, postpartum hemorrhage increase the risk of developing myotonic dystrophy. Since the mother can also be diagnosed with congenital myotonic dystrophy, she, like the child, needs a thorough physical examination and EMG.

Why is myotonic dystrophy an example of a premonition phenomenon?

genetic research show that myotonic dystrophy is based on the expansion of a trinucleotide in the protein kinase gene on the long arm of the 19th chromosome. In each subsequent generation, the number of repetitions of this trinucleotide can increase, sometimes thousands of repetitions are found (normally less than 40), and the severity of the disease correlates with the number of repetitions. Thus, in each subsequent generation, one can expect an earlier and more pronounced manifestation of the disease (the "premonition" phenomenon).

What is the difference between the pathophysiology of infant botulism and the pathophysiology of foodborne botulism?

Infant botulism is caused by ingestion of Clostridium botulinum spores, which begin to develop and produce the toxin in the baby's intestines. The origin of the spores often remains unknown; some experts believe that their source is honey; they are also found in corn syrup. Therefore, it is not recommended to give the above products to children under 1 year old. In food botulism, the toxin is already present in the food. The development of spores occurs when products are not properly preserved or stored under anaerobic conditions; poisoning occurs if the toxin has not been inactivated by adequate heat treatment. Rarely, tissue botulism occurs when spores enter a deep wound and develop in it.

What is the earliest indication for intubation in children with infantile botulism?

The loss of protective reflexes in the airway is noted earlier than respiratory failure or respiratory arrest, since the function of the diaphragm is not impaired until 90-95% of synaptic receptors are affected. The likelihood of a threatened respiratory arrest in a child with hypercarbia or hypoxia is very high.

Why are antibiotics and antitoxins not used for infant botulism?

- By the time of diagnosis, the condition of most patients usually stabilizes or even begins to improve.
- The use of antibiotics can lead to the death of bacteria and the release of additional amounts of toxin.
- High risk of anaphylaxis and serum sickness.
- During the entire period of the disease, the circulation of unbound toxin is not detected.
- The toxin binds irreversibly (recovery is possible due to the growth of new nerve endings).
- The prognosis for intensive maintenance therapy is already very favorable.

Why is the administration of aminoglycosides to a child with severe weakness relatively contraindicated if botulism is suspected?

Botulinum toxin irreversibly blocks the release of acetylcholine from presynaptic terminals. Aminoglycosides, tetracyclines, clindamycin, and trimethoprim also interfere with the release of acetylcholine. Therefore, in the case of botulism, they will act synergistically with the toxin, which will lead to a deterioration in the patient's condition.

Why is botulism most common in mountainous areas?

Most cases of foodborne botulism are associated with eating improperly canned or cooked food. Typically, the toxin is inactivated by 10 minutes of boiling. However, in mountainous areas the water boils at a lower temperature and ten minutes may not be enough to destroy the toxin.

How to distinguish myasthenia gravis in newborns from infantile botulism?

In newborns, isolated cases of botulism have been described. Symptoms always occur after the baby is discharged from the neonatal unit. Constipation is usually a harbinger of botulism, later weakness of the muscles of the face and pharynx develops, ptosis, dilatation and weak reaction of the pupils to light, suppression of deep tendon reflexes are noted. Muscle strength does not increase after edrophonium injection. EMG shows characteristic changes - short low-amplitude polyphasic potentials and an increase in the amplitude of induced muscle potentials with repeated nerve stimulation. Stool examination may reveal Clostridium or a toxin.

Myasthenia gravis is usually diagnosed at birth or in the first days of life. Myasthenia can be found in siblings or in the mother of an affected child. Localization of zones of muscle weakness depends on the subtype of myasthenia gravis; pupils and deep tendon reflexes were normal. On EMG - a progressive decrease in the amplitude of compound motor potentials with repeated stimulation of the nerve. The introduction of edrophonium leads to a temporary increase in physical strength and prevents the pathological reaction to repeated nerve stimulation during EMG.

What is the risk for a newborn whose mother has myasthenia gravis?

Passively acquired myasthenia of the newborn develops in almost 10% of children, born of women with myasthenia due to transplacental transfer of antibodies to the acetylcholine receptor (AChR) of striated muscles. Signs of myasthenia usually appear in the first hours or days of life. Pathological muscle weakness causes feeding difficulties, general weakness, hypotension and respiratory depression. Ptosis and oculomotor disorders are observed only in 15% of cases. Weakness becomes less pronounced with a decrease in the content of anti-AChR-immunoglobulins. As a rule, symptoms last about 2 weeks, but it may take several months for them to disappear completely. Usually, maintenance therapy is sufficient; sometimes neostigmine is additionally administered per os or intramuscularly.

What is the difference between pathophysiological mechanisms of juvenile and congenital myasthenia gravis?

Juvenile and adult myasthenia gravis (as well as adult myasthenia gravis) is based on the circulation of antibodies to AChR in the postsynaptic zone of the neuromuscular junction. There is no autoimmune mechanism in congenital myasthenia gravis. Its occurrence is associated with the presence of morphological or physiological defects in the pre- and postsynaptic membranes, including impaired ACh synthesis, acetylcholinesterase deficiency in the end plate region, and AChR deficiency.

How is the edrophonium injection test performed?

Edrophonium is a fast-acting, short-acting anticholinesterase drug. It reduces the severity of symptoms of myasthenia gravis by suppressing the breakdown of ACh and increasing its concentration in the synapse zone. A dose of 0.015 mg/kg is administered intravenously; in case of tolerance, the full dose is applied - 0.15 mg / kg (up to 10 mg). If there is a significant improvement in the functioning of the eye muscles and an increase in the strength of the limbs, most likely there is myasthenia gravis. Prepare atropine and cardiopulmonary resuscitation (CPR) because possible development cholinergic crisis, which is characterized by bradycardia, hypotension, vomiting, bronchospasm.

Is the diagnosis of juvenile myasthenia gravis ruled out by a negative antibody test?

Not excluded. 90% of children with myasthenia gravis have a measurable amount of anti-AChR-immunoglobulins, but their absence in the remaining 10% of children should not dampen the doctor's vigilance, especially since their symptoms are less pronounced (only weakness of the eye muscles or minimal general weakness can be observed) . In doubtful cases, additional studies are needed to confirm the diagnosis (test with the introduction of edrophonium, electrophysiological studies, single-fiber EMG).

What are the four characteristic signs of damage to the cells of the anterior horn of the gray matter of the spinal cord?

Weakness, fasciculations, muscle atrophy and hyporeflexia.

What is the clinical significance of dystrophin?

Dystrophies are a muscle protein. It is assumed that its function is to attach the contractile apparatus of striated and cardiac muscle cells to the cell membrane. In patients with Duchenne muscular dystrophy, this protein is completely absent due to a gene mutation. In patients with Becker muscular dystrophy, the amount of this protein is reduced or (in rare cases) the protein molecules are abnormal in size.

How to distinguish between Duchenne and Becker muscular dystrophies?

Duchenne muscular dystrophy
Genetics: X-linked inheritance; several different deletions or point mutations in the dystrophin gene result in a functionally defective protein. New mutations occur. Female carriers may have mild muscle weakness or cardiomyopathy.

Diagnostics: DNA analysis of whole blood reveals a deletion in approximately 65% ​​of cases. The final diagnosis is made after EMG and muscle biopsy.

Manifestations: the disease is continuously progressing, weakness of the proximal muscles, hypertrophy of the calf muscles are noted; the child's ability to move remains until the age of 11, curvature of the spine and contractures; possible development of dilated cardiomyopathy and / or respiratory failure.

Becker muscular dystrophy
Genetics: X-linked inheritance; various mutations of the dystrophin gene lead to a decrease in the content of the protein, the function of which is partially preserved.

Diagnostics: similar to that in Duchenne dystrophy; Becker's dystrophy is distinguished by a lesser severity of manifestations; in addition, with Becker's dystrophy, a decrease in the content of dystrophin in muscle cells can be detected (immunological methods are used).

Manifestations: less pronounced, slower progression (compared to Duchenne dystrophy); calf muscle hypertrophy; the child's ability to move remains until the age of 14-15 years or longer.

Is prednisone treatment effective for Duchenne muscular dystrophy?

Several studies have shown that improvement occurs with the introduction of prednisone at a dose of 0.75 mg / kg / day. This dose is considered optimal. The effect of increasing physical strength lasted for 3 years while steroid drugs were used. Adequate duration of treatment and the optimal time of initiation of therapy have not been precisely determined to date; In many cases side effects(weight gain and predisposition to infections) may outweigh a positive result.

How likely is it to develop paralysis when infected with the polio virus?

Up to 95% of immunocompetent people carry this infection asymptomatically. Approximately 4-8% of those infected have a mild form of the disease, characterized by low fever, sore throat and general malaise. CNS involvement is observed in less than 1-2% of cases when aseptic meningitis (non-paralytic poliomyelitis) or paralytic poliomyelitis develops. Paralysis occurs in only 0.1% of those infected.

What pathological conditions are classified as hereditary neuropathies?

Some diseases of the peripheral nervous system develop due to hereditary molecular or biochemical pathology. Despite the fact that such pathologies are relatively rare, they are responsible for the development of a significant proportion of the so-called "idiopathic" neuropathies. The mode of inheritance is most often dominant (demyelination in Charcot-Marie-Tooth disease), but may be recessive or X-linked. Hereditary neuropathies are manifested by chronic, slowly progressive non-inflammatory degeneration of neuronal bodies, axons, or Schwann cells (myelin). As a result, sensory (congenital insensitivity to pain) or, less commonly, motor-sensory disorders (Charcot-Marie-Tooth syndrome) occur. Deafness, optic neuropathy, autonomic neuropathy are sometimes observed.

What are the main neurological manifestations of Guillain-Barré syndrome?

Guillain-Barré syndrome (GBS), the full name is Londry-Guillain-Barré syndrome, is an acute idiopathic polyradiculoneuritis. This is the most common type of acute (subacute) polyneuropathy in clinical practice. The disease is characterized by the occurrence of multiple foci of inflammatory demyelination of the nerve roots and peripheral nerves. Due to the loss of the normal myelin sheath, the conduction of nerve impulses (action potentials) can be disturbed or even completely blocked. As a result, predominantly motor clinical manifestations- flaccid areflexive paralysis. The degree of motor weakness may vary. Some patients develop rapidly transient mild weakness, while others develop fulminant paralysis. Signs of damage to the autonomic nervous system (tachycardia, hypertension) or sensory symptoms (painful dysesthesias) are detected quite often, but may be masked by motor disorders.

What are the characteristic signs of GBS found in the study of cerebrospinal fluid?

The classic sign is albumin-cytological dissociation. In normal infectious or inflammatory processes, the content of leukocytes and protein in the CSF simultaneously increases. In GBS, the cerebrospinal fluid contains a normal number of white blood cells, and the protein level is elevated, usually to 50–100 mg/dL. However, in the initial stages of the disease, the protein content in the CSF may be normal.

What is the medical tactics in the acute development of Guillain-Barré syndrome?

The main task is to prevent bulbar and respiratory failure. Bulbar insufficiency is manifested by weakness of the facial nerve (on one or both sides), diplopia, hoarseness, salivation, suppression of the gag reflex, dysphagia. Severe respiratory failure may be preceded by oxygen starvation, shortness of breath, slight muffled voice (hypophonia). Sometimes the autonomic nervous system is involved, as evidenced by the lability of blood pressure and body temperature. With GBS, medical tactics prescribe:

1. Monitor the patient in the intensive care unit, regularly monitoring his vital signs.

2. Perform plasmapheresis (if technically possible) at the initial stage of the disease. Intravenous gamma globulin is also effective, but to date it has not been clarified which of these two methods gives better results.

3. If the patient has bulbar symptoms, be sure to ensure that his position is safe, and often drain the oral cavity. Hydration is carried out through intravenous administration of appropriate solutions; nutrient solutions are administered through a nasogastric tube.

4. Measure tidal volume (TO) as often as possible. Normal tidal volume in children is calculated by the formula: DO \u003d 200 ml x age (in years). If the TO falls below 25% of normal, the patient must be intubated. It is necessary to carry out a thorough sanitation of the lungs to avoid the development of atelectasis and pneumonia, as well as aspiration of saliva.

5. Careful patient care. The main attention should be paid to the prevention of bedsores, venous thrombosis, compression of peripheral nerves.

6. Appointment physiotherapy exercises. The formation of contractures can be prevented by passive movements, as well as the application of bandages that help maintain the limbs in a physiological position until muscle strength is restored.

What is the prognosis for children with GBS?

Children recover more quickly and completely than adults. Residual defects are detected in less than 10% of patients. Rarely, the neuropathy recurs as a "chronic inflammatory demyelinating polyneuropathy".

How does multiple sclerosis manifest itself in children?

Multiple sclerosis is extremely rare (0.2-2.0% of all cases of neurological pathology) occurs in childhood. Studies show that boys are more likely to get sick in early childhood, while girls are more likely to get sick in adolescence. Typically, the first signs of multiple sclerosis are transient visual disturbances and other sensory symptoms. In the study of the spinal cord, a moderately pronounced mononuclear pleocytosis is noted, with each subsequent relapse, the probability of detecting oligoclonal stab cells increases. The most informative and accurate diagnostic method is MRI tomography: the diagnosis is confirmed when multiple periventricular lesions of the white matter are detected.

When are puppet eyes considered a variant of the norm, and when do they indicate the presence of a pathology?

The oculovestibular reflex (also called the oculocephalic, proprioceptive head-turning reflex, or "doll-eye" reflex) is most commonly tested when examining brainstem function. The patient's head (his eyes should be open) is quickly turned from side to side. The test is considered positive if there is a conjugate deviation of the eyes in the direction opposite to the turn of the head (i.e., if both eyes deviate to the left when the head is turned to the right). The presence (or absence) of the "doll eyes" reflex is interpreted as follows:

1) in healthy, awake children under 1 year of age (in those who do not suppress or enhance the reflex by voluntary eye movements), this reflex is easily evoked and is normal. The doll-eye reflex is evaluated when determining the range of movements of the eyeballs in children during the first weeks of life;

2) in healthy, awake adults with normal vision, this reflex is normally absent and the direction of eye movement coincides with the direction of head rotation;

3) in patients in a state of coma, while maintaining the function of the brain stem, the presence of the "doll's eye" reflex is due to depression of the cerebral cortex. The detection of this reflex in a patient in a state of coma serves as a demonstration of the preservation of the function of the trunk;

4) with a coma with damage brain stem the reflex is absent due to damage to the corresponding nerve connections.

How is a cold test performed?

The test evaluates the functions of the brain stem in patients who are in a coma, or in patients who have been administered tranquilizers. 5 ml is injected into the external auditory canal (the patient's head is raised at an angle of 30 °). cold water(water temperature is about 0 ° C), provided that the eardrum is preserved. Normally, the eyes deviate in the direction on which the infusion was performed. Lack of response indicates severe dysfunction of the brainstem and medial longitudinal fasciculus.

Under what pathological conditions are "pin" pupils observed?

The diameter of the pupil is determined by the balance between the constricting influence of the III cranial nerve (related to the parasympathetic nervous system) and the expanding effect: the ciliary nerve (related to the sympathetic nervous system). The presence of "Shop" pupils indicates that the action of the III FMN does not encounter opposition from the sympathetic system. This can be observed with a pathological change in the structures of the brain bridge through which descending sympathetic fibers pass. Pupils of small diameter that react to light are characteristic of some metabolic disorders. Pupil constriction caused by opiate intoxication (morphine or heroin) may resemble that of pontine structures. Several other substances also have a constricting effect on the pupil, including propoxyphene, FOS, carbamate insecticides, barbiturates, clonidine, meprobamate, pilocarpine (eye drops), as well as substances contained in poisonous mushrooms and in nutmeg.

What is the differential diagnosis for ptosis?

Ptosis is a downward displacement of the upper eyelid due to dysfunction of the muscles that lift it. A drooping eyelid can be seen with "pseudoptosis" due to localized edema or severe blepharospasm. The reason for the development of true ptosis is the weakness of the muscles of the eyelid or a violation of innervation. Congenital ptosis is caused directly by muscle pathology and is observed in Turner or Smith-Lemli-Opitz syndromes, with myasthenia gravis. The cause of ptosis may be a neurological pathology, such as Horner's syndrome (which is based on a violation of the sympathetic innervation of the Müller muscle of the eyelid), paralysis of III cranial insufficiency, which innervates m. levatorpalpebrae.

What is the significance of Markus Gunn's pupil?

Normal pupils are of the same diameter (with the exception of pupils in people with physiological anisocoria) due to the consistency of the pupillary reflex of both eyes to light: light entering one eye causes the same constriction of both pupils. In some diseases, damage to the optic nerve disc is unilateral. For example, a meningioma can form in the sheath of one of the optic nerves. As a result of a unilateral or asymmetric lesion of the optic nerve, the symptom of the "pupil of Marcus Gunn" (afferent pupillary defect) develops.

How is the oscillating light test performed?

1. The study is carried out in a shaded room; the patient fixes his gaze on a distant object (i.e., conditions are created for maximum expansion of the pupil by suppressing the reflex reaction to direct light and the accommodative reflex).

2. When a beam of light is directed to a healthy eye, the diameter of the pupils of both eyes decreases equally. The beam is then immediately directed to the affected eye. Initially, his pupil remains contracted due to the coordinated reaction of the pupils to light that has taken place. However, after some time, the pupil of the affected eye begins to dilate despite continued exposure to direct light. Thus, the pupil of the affected eye paradoxically dilates upon direct light stimulation. This is the so-called ascending defect.

What pathology can be assumed in a child whose eyelids do not fall when yawning, but rise?

The Marcus Gunn reflex, also known as the yawning-blinking phenomenon, presumably occurs when there is a congenital "short circuit" of the oculomotor and trigeminal nerves. In this case, when yawning, ptosis is observed when closing the mouth and lifting the eyelids when opening the mouth.

What are the causes of optic nerve atrophy in children?

Atrophy of the optic nerve is characterized by pallor and accentuation of the vascular pattern of the optic disc, which are detected during examination of the fundus. With severe atrophy, a pathological reaction of the pupil to light, a decrease in visual acuity, a narrowing of the visual field, and a violation of color vision can be observed. Optic nerve atrophy should be differentiated from its hypoplasia, in which there is a decrease in the diameter of the optic nerve head, but its color and vascular pattern are preserved.

Causes of optic nerve atrophy: structural pathology (mucocele of the sphenoidal sinus, neuroblastoma, chronic increase in intracranial pressure, tumors localized in the orbit or chiasm); metabolic / toxic disorders (hyperthyroidism, vitamin B deficiency, Leber's visual atrophy, various leukodystrophy, mitochondrial pathology, poisoning with methanol, chloroquine, amiodarone); various syndromes inherited according to a recessive type, which are characterized by neurological manifestations (mental retardation, paraparesis), demyelinating diseases (optic neuritis, multiple sclerosis).

You are an athlete. The pride of bodybuilding, fitness medal, aerobics dream, and other high elements of other areas of beauty and strength. You just need to leave the house, walk down the street, move yourself, smile (at least at the window), and the surrounding population forgets where and why they live. Because visually enjoys you.

And in this case, and in all others, you may be disturbed by a trifle - muscle disease. Don't want it? Nobody wants.

In addition to painful phenomena resulting from injuries (ruptures, sprains, etc.), muscle troubles can occur without external factors. So to speak, on your own!.

muscle cramp

• The manifestation of dehydration of the body (exicosis). Visits at night or in the morning. Mostly elderly, but there are exceptions. When a large load is placed on the muscles, hardening appears. Alas. Massage. Visit to the doctor.
• Rheumatic diseases. Pain in hips and shoulders. Muscles may be directly affected (dermatomyositis). Occurs more often in women. Treatment with hormones - glucocorticoids. Anti-inflammatory drugs, physiotherapy.
• Hormonal disorders. Muscle weakness (endocrine myopathy) appears as a result of increased thyroid or adrenal function.
• Muscle inflammation. Inflammation of the muscles (neck, back, chest...) (myositis). Similar to rheumatism, but in addition, the muscles become inflamed. Pain, muscle weakness. The treatment is similar to the treatment of rheumatism.
• Lack of minerals. With potassium deficiency, paralysis smiles. This “smile” is especially felt by young people and children. Treatment - preparations containing potassium. Do not eat before bed, and generally play sports. Or at least the choreography.
• Lack of enzymes. In children, violations of the functions of enzymes that break down glucose and glycogen are more common. The source of energy for the muscles goes on vacation. Physical activity must be avoided.

Painful muscle fatigue

Appears after acidosis. That is, with fair loads, glucose is broken down into lactic acid. And the acid is not easily excreted from the body. Moreover, sometimes causes pain. You will have to drink mangosteen juice (this is what athletes on our planet do), or clean water.

Causes of stretching muscles

• injuries, overloads, sprains;
• taking certain medications (statins, angiotensin-converting enzyme inhibitors);
• inflammatory diseases of an autoimmune nature;
• electrolyte disturbances (lack of potassium and calcium);
• fibromyalgia;
• infectious diseases (influenza, malaria, poliomyelitis, trichinosis, muscle abscess ...);
• systemic lupus erythematosus;
• polymyalgia rheumatica (rheumatic manifestations are generally sociable).

Let your muscles rest. Pamper them with a massage, or even with anti-inflammatory drugs (paracetamol, ibuprofen). Periodically - but carefully, gently, without overexerting yourself - seduce yourself exercise. And don't meditate in the cold or draft. And then the population will definitely find in you one more medal.