Neuromuscular diseases. Hereditary diseases of the nervous system, muscular dystrophies, myasthenia gravis

Iv. Vaptsarov

Muscle disease is relatively common in childhood. Some of them are due to the primary lesion of the muscle fiber. These are congenital, genetically dependent (hereditary and hereditary-family) diseases. Others represent muscle lesions resulting from metabolic disorders, infectious, inflammatory and toxic processes. Diseases of the third group are caused by diseases of the nervous system and neuromuscular apparatus. There is also a group that unites muscle diseases of an etiology that has not yet been clarified.

PRIMARY AND HEREDITARY MUSCLE DISEASES

PROGRESSIVE MUSCULAR DYSTROPHY

Progressive muscular dystrophies are genetically determined hereditary and hereditary-family diseases characterized by a chronic, progressive course of development, resulting in severe disability. The relative frequency of these diseases, which has been increasing in recent years, the severity clinical symptoms, as well as the lack of specific and effective treatment, turn them into social diseases.

Pathogenesis and pathological anatomy. The histological picture of primary muscular dystrophies is characterized by uneven segmental degeneration that develops in areas along the muscle fibers, which in these areas lose their transverse banding. The size of the nuclei of the sarcolemma increases, they become more rounded and located closer to the center. There is a picture of hyaline, granular or vacuolar dystrophy with a characteristic tendency to a certain staining. Phagocytosis, proliferation of connective tissue and a significant accumulation of fat droplets between the fibers are visible, which gives the dystrophically pronounced muscle a yellowish color. However, especially feature is a random distribution of lesions in individual beams, and therefore their sizes are different. This feature distinguishes progressive muscular dystrophies from neural ones, where damage to the anterior horns, roots, or trunk causes systematic and uniform, rather than segmental, atrophy of muscle fibers.

The pathogenetic mechanisms of these dystrophies have not yet been fully elucidated. Currently, the most acceptable is the enzyme theory, according to which dystrophic changes in the muscle fiber occur as a result of a violation of the activity of muscle aldolase, phosphocreatine kinase and, to a lesser extent, lactate dehydrogenase. During the first phases of the disease, the level of these enzymes in the blood increases, but in parallel with the progressive development of atrophy, it gradually decreases due to a decrease in the active muscle tissue that produces them. Transaminase levels are usually normal. Hypercreatinuria and hypocreatinuria are also detected with low creatinemia.

The electromyogram is characterized by: a) the absence of electrical activity at rest; b) low, crooked, and sometimes multi-phase potentials of motor units; c) with increasing effort, the rapid appearance of interference curves; d) at maximum contraction against the background of interference recording, pronounced muscle weakness contrasts.

Depending on the type of genetic transmission of the disease and the initial localization of the process in certain muscle groups, it is generally accepted that progressive muscular dystrophies represent several clinical and genetic forms.

Duchenne disease(paralysis pseudohypertrophicans, paralysis myosclerotica) is an X-linked recessive disease that manifests itself approximately one year after birth and mainly in boys. It is characterized by a general and progressive decrease in the strength of the muscles of the trunk and proximal parts of the limbs with a relatively preserved motor strength of the muscles of the distal parts of the limbs. The muscles of the lower extremities are affected first. The gait takes on the character of a "duck". During walking, the body lags behind due to rapidly developing lordosis. Children often fall and it is difficult to climb stairs. When, after squatting, children try to get up, they lean on their lower limbs with their hands, alternately rearranging them up. If the child lies, then when trying to get up, he rolls over on his stomach, leans on his hands, slowly bends his knees, and only after that he straightens up, helping himself with his hands, as described above. "Then the lesion covers the proximal muscles of the upper limbs and the shoulder girdle. In advanced cases, atrophy of the scapular muscles sometimes leads to the appearance of scapulae alatae. After the large muscles, the smaller muscles are affected. Due to the symmetrical but uneven involvement of all muscle groups of the limbs, severe deformities and curvature of the spine.The face is usually not m gets married. In some larger muscles, along with fiber atrophy, connective tissue proliferation and fat accumulation occur, as a result of which pseudohypertrophy is observed, which is hallmark Duchenne's disease. This process is most clearly expressed in the quadriceps muscles, less often in the deltoid muscles, the mass of which contrasts against the background of atrophy of neighboring muscles.

As a rule, tendon reflexes remain normal, but actually muscle contraction weakens sharply.

The dystrophic process can also affect the myocardium. As a result of protein and fatty degeneration and fibrosis, cardiomegaly develops. The ECG shows a broadening of the PQ, often a blockade of one of the legs and a decrease in the T segment. The pulse quickens, and in the terminal stage symptoms of cardiovascular weakness appear. Due to atrophy and limitation of movement, osteoporosis is observed, "thinning of the diaphysis and, in rare cases, a fracture. Progressive disability may cause changes in character, but the lag mental development rarely observed.

Leiden disease - Möbius is a type of Duchenne's disease, characterized by the absence of pseudohypertrophy and the localization of the process exclusively in the muscles of the pelvis and lower extremities. It is inherited - autosomal recessive type.

Landouzy disease - Dejerine called Myopathia facio-scapulo-humeralis because the process starts in the muscles of the face and predominantly affects the muscles of the shoulder girdle. It is inherited in an autosomal dominant manner and affects both sexes equally. Usually manifests in the second decade of life, but earlier and more cases have been described. late start. Facial muscle dystrophy results in a characteristic myopathic face with a fixed expression, horizontal smile, and incomplete eye closure during sleep. Atrophy gradually covers the muscles of the shoulder girdle (mm. dentatus, rhomboideus, trapezius, infra- et supraspinosus, m. m. pectorales, deltoideus, biceps et triceps brachiaiis, etc.), causing a significant limitation of movements and the pterygoid shape of the shoulder blades (scapulae ala-tae) . The absence of pseudohypertrophy in most patients is characteristic. The myocardium is also affected, but usually there are no clinical symptoms and the diagnosis is made using an ECG. This form of the disease develops much more slowly, exists for many years. Her prognosis is comparatively better, despite progressive disability.

Erb's disease (Myopathia scapulo-humeralis) is transmitted in an autosomal dominant manner. In terms of clinical characteristics and development, it is very similar to Landouzy-Dejerine disease, but differs from it in the absence or late damage to the facial muscles and the presence of pseudohypertrophy.

Rare histological varieties

The neonatal form of Duchenne's disease clinically completely resembles Oppenheim's disease (a syndrome that previously combined both primary and neural muscular dystrophies, see Werdnig-Hoffmann's disease).

Primary congenital generalized Krabbe muscle hypoplasia and related Batten-Turnen disease.

Central core diseasecharacterized by a grouping of myofibrils in the center of the bundle and the absence of a disk. The clinical picture consists of non-evolving myotonia, which later progresses to well-defined muscle weakness. It is transmitted in an autosomal dominant manner.

Nemaline myopathyhas an akin clinical picture, but histological examination reveals a Z disk, the tropomyosin of which forms special "rods" under the sarcolemma.

Myotubular myopathies histologically composed of fetal-type muscles with tubular cavities in the center of the fiber containing a large number of mitochondria.

Mitochondrial myopathies are distinguished by a variety of mitochondrial anomalies: inclusions, gigantic size, or unusual large quantity. The type of inheritance is autosomal dominant.

The diagnosis of progressive muscular dystrophy in the presence of a detailed clinical picture is easily made, even at the first examination. Differentiation of classical forms is possible by defining initial group lesions, the presence or absence of pseudohypertrophy and the genetic type of transmission of the anomaly.

One has to face great difficulties in the early stages of the development of the disease, as well as in atypical, erased forms. In these cases, family genetic and biochemical (enzyme) studies help to make an accurate diagnosis.

In the differential diagnosis of the entire group, it is necessary to take into account neural (Werdnig - Hoffmann, Kugelberg - Wellander) and other symptomatic muscular dystrophies, myatonia and myotonia in early age etc.

Clinic and prognosis. Muscle retraction and tendon atrophy (symptoms of these forms) gradually lead to the development of contractures and joint deformities that impair motor functions and movements of the child. On the other hand, inactivity accelerates atrophy, creating a vicious circle that ends in complete disability. The prognosis of the forms of Duchenne, Leiden - Möbius and Landouzy - Dejerine worsens due to progressive myocardial dystrophy and the tendency of these children to respiratory tract infections. Progressive disability adversely affects the psyche of children, with more severe forms may be accompanied by some delay in neuropsychic development. Pathological changes in character are more often observed.

Drug treatment (adrenaline, pilocarpine, ezerin, galactamine, nivalin, proteolysates, androgenic anabolic hormones, vitamin E, glycocol, even adenosine triphosphoric acid) does not give significant results. To a greater extent, you can count on physiotherapy that improves muscle circulation: warm procedures, light massage, etc. Vasodilators, such as vasculat, are also prescribed.

Complete rest is reflected unfavorably. The child must perform moderate, dosed in a slow rhythm movements that do not lead to the exhaustion of the energy reserves of the muscles and do not cause a deterioration in the condition. The correct psycho-pedagogical approach is especially necessary to improve the mood of children who are deeply experiencing their illness.

HEREDITARY MUSCLE ATROPHY CAUSED BY NERVOUS SYSTEM DAMAGE

Neural muscular atrophy (Charcot-Marie-Tooth disease) - hereditary degenerative disease of the peripheral nervous system.

Spinal muscular atrophy (Werdnig-Godfmann disease). The main pathological process of this disease is the progressive degeneration of the motor cells of the anterior horns of the spinal cord. Muscle atrophy is a secondary phenomenon.

The etiology of the disease has not been fully elucidated.

Pathological anatomical examination establishes damage to the cells of the anterior horns of the spinal cord.

Clinic. The disease manifests itself in the first days or first months of life. Unusually severe muscle hypotension develops, starting in the proximal lower limbs and rapidly spreading to the entire skeletal muscles. The child lies absolutely lethargic, without tone, and makes only slight movements with the smallest joints (for example, fingers). However, the liveliness of facial expressions contrasts sharply with the general lethargy of the limbs and the quiet, weak voice of the child. Passive movements are possible in any direction, and the joints give the impression of extraordinary looseness. Hypotension sharply affects the auxiliary respiratory muscles, so breathing and pulmonary ventilation are very difficult. Hence the particular frequency of atelectatic pneumonia and the severe course of respiratory tract infections. Muscle atrophy is very pronounced, but the picture is veiled by significant fatty subcutaneous tissue. On radiographs, however, thinning of the muscles is clearly visible. The presence of paresis and paralysis is expressed in the weakening or complete absence of tendon reflexes against the background of existing skin reflexes, as well as the actual muscle contraction. The study of electrical excitability reveals the lengthening of chronaxia and the reaction of muscle degeneration, and the electromyogram reveals neurogenic muscle atrophy.

The disease has an autosomal recessive transmission pattern. It is customary to divide it into three main clinical forms: early (congenital), childhood and late (Kiegelberg-Welander disease). AT recent times intermediate forms are also described.

An early form of spinal muscular atrophy is already manifested in utero by the absence or completely sluggish movements of the fetus, which causes concern, especially in those pregnant women who have already given birth to a healthy child.

The diagnosis is made immediately after birth, as it gives the impression of a sharp hypotension and a decrease in the mobility of the child. In the future, hypotension and paresis continue to worsen. The face of the child completely loses its facial expressions.

This form of the disease completely coincides with the congenital myotonia described by Oppenheim, which has not recently been considered an independent disease, since the general symptoms of these diseases made it possible to combine them into one nosological unit.

The prognosis of early forms is severe. Children die in infancy from respiratory tract infections. In late and mild forms, if children do not die within the first three years of life, significant adaptation may occur.

Treatment. All therapeutic agents used in poliomyelitis are recommended. Most important, however, is the prevention of respiratory infections and contagious diseases from which these children usually die.

Clinical Pediatrics Edited by prof. Br. Bratinova

Speaking of muscle diseases, we mean diseases of striated muscles - which a person can control by willpower (muscles internal organs, called smooth, are set in motion regardless of the will of the person, because their function is controlled by the autonomic (autonomous) nervous system).

The main muscle diseases are ruptures (most often the result of trauma), as well as acquired and congenital diseases. The first symptoms of congenital myopathy (muscle weakness and atrophy) appear in children and even newborns. Congenital myopathy is incurable. Acquired myopathy is most often associated with autoimmune diseases (eg, scleroderma, dermatomyositis).

Diagnostics

The diagnosis is established by a blood test. There are certain proteins that in a healthy body are found in muscle cells. When these cells (myocytes) become ill, some of them die, and these protein compounds enter the bloodstream. A blood test determines whether the amount of protein in the blood has increased. With the help of a special device, the doctor records an electromyogram, according to its data, one can judge the nature of the muscle disease. In addition, it is necessary to find out if the nerves are affected. For this purpose, a device has been created that provides information on the propagation of impulses along the nerves. The final diagnostic method is a biopsy. The doctor inserts a hollow needle into the muscle tissue and takes a sample of it, which is examined under a microscope. Genetic testing is also carried out to confirm the diagnosis.

muscle tear

Symptoms:

• Muscle pain due to overuse.
• A deepening or swelling is felt in the muscle due to hematoma.

Due to excessive stress, individual muscle fibers or the entire muscle can tear. This can happen during an accident or sports. If torn most of muscle fibers, a depression appears, determined by touch.

There is severe pain. If most or all of the muscle is torn, surgery is needed. When providing first aid, it is recommended to apply ice to the affected area. Cold reduces pain, acts anti-inflammatory, protects tissues from severe swelling. Later, therapeutic exercises help to strengthen the muscles.

Most often, “cold” muscles are still torn, i.e. when excessive load falls on insufficiently prepared muscles. Therefore, before intensive classes sports need exercises to warm them up (stretching exercises, massage).

congenital myopathy

Symptoms:

• Weakness of the affected muscle.
• Soft, atonic muscles that may be abnormally large or small.
• Pain.
• Seizures.
• Twitching of individual muscle fibers.

All diseases that cause a decrease in muscle tissue and are accompanied by a violation or cessation of muscle function are congenital. At first, it is not possible to diagnose muscle atrophy in newborns. However, it is immediately clear if the newborns have weakened muscle tone. Such people remain disabled for life. In addition, in the presence of some forms of muscle atrophy, the average duration life, children may die in the first or second year of life.

It is necessary to follow a special diet and avoid food with great content carbohydrates and fats. In addition, assigned physiotherapy, but the exercises are selected very carefully, because. in some diseases it can be harmful.

Spasm

As a result of exicosis (dehydration of the body) and an imbalance of electrolytes (salts), a muscle cramp may appear: the muscles contract and harden, then they slowly relax. This cramp usually occurs at night or in the morning. The person suddenly feels very severe pain. Seizures are especially common in the elderly. If the muscles constantly have too much huge pressure and their nutrition is disturbed, hardening may appear. Muscle fibers are reborn into connective tissue, which is palpable in the form of dense nodes. The patient is advised to drink plenty of fluids. Thus, the water-salt balance of the body is restored.

If the painful condition of the muscles does not go away, then you need to see a doctor. Muscle hardening is treated with massage, vitamin E and thermal treatments.

Rheumatic diseases

There are many various diseases related to rheumatic, with a disease that affects either the muscles themselves, or (more often) the blood vessels that feed them. First of all, there are pains in the shoulders and hips. Some rheumatic diseases, such as dermatomyositis, affect the skeletal muscles. Hormonal treatment with glucocorticoids is effective. They suppress the inflammatory process, but cause many side effects. Therefore, usually the symptoms of rheumatic diseases are tried to suppress with other effective anti-inflammatory drugs or with the help of physiotherapy.

Muscle inflammation (myositis)

The symptoms of myositis are similar to those of rheumatic diseases, however, with myositis, the muscles themselves are also affected. Myositis is characterized not only by pain, but also by pronounced muscle weakness. Myositis is treated in the same way as rheumatic diseases.

Mineral deficiency

Muscles need a sufficient amount of certain substances to function properly. For example, paralysis can occur as a result of potassium deficiency. This is especially acute for children and young people in the morning after a hard day. Treatment is carried out with potassium preparations. In addition, before going to bed, you should not overeat or exercise intensively.

Enzyme Deficiency

Children occasionally have a congenital deficiency of a particular enzyme. Quite often there is a violation of the function of enzymes that break down glycogen and glucose, which are a source of energy for muscles. Due to a congenital deficiency of enzymes, the muscles receive insufficient energy, resulting in their weakening. A person with enzyme deficiency syndrome should avoid intense physical activity.

Painful fatigue

Painful muscle fatigue occurs due to acidosis. To obtain the necessary energy during heavy physical exertion, the available glucose is broken down to lactic acid, which the blood is not able to quickly remove from the body. Lactic acid begins to build up in the muscles, causing pain.

Nervously- muscle diseases(NMZ) is one of the most numerous groups hereditary diseases, characterized by a violation of the functions of voluntary muscles, a decrease or loss of control over movements. The occurrence of these diseases is due to a defect in embryonic development or a genetically determined pathology.

A characteristic manifestation of hereditary neuromuscular diseases is ataxia - a disorder of coordination of movements, impaired motor skills. At static ataxia balance is disturbed in a standing state, with dynamic - coordination during movement.

The following symptoms are characteristic of neuromuscular diseases: weakness, muscle atrophy, spontaneous muscle twitches, spasms, numbness, etc. If the neuromuscular connections are disturbed, patients may experience drooping of the eyelids, double vision, and a number of other manifestations of muscle weakening, which only intensify during the day. In some cases, there may be a violation of the swallowing function and breathing.

Classification of neuromuscular diseases

Neuromuscular diseases can be classified into four main groups depending on the location:

• muscles;
• neuromuscular endings;
• peripheral nerves;
• motor neuron.

According to the type and type of violations, they are divided into the following main groups:

• primary progressive muscular dystrophies (myopathies);
• secondary progressive muscular dystrophies;
• congenital non-progressive myopathies;
• myotonia;
• hereditary paroxysmal myoplegia.

Myopathy

The term myopathy (myodystrophy) combines enough large group diseases that are associated common feature: primary lesion of muscle tissue. The development of myopathy can provoke various factors: heredity, viral damage, metabolic disorders and a number of others.

Inflammatory myopathies (myositis) are diseases caused by inflammation. They develop as a result of autoimmune disorders and may be accompanied by other diseases of a similar nature. These are dermatitis, polymyositis, myositis with various inclusions.

Mitochondrial myopathies. The cause of the disease is structural or biochemical mitochondria. This type of disease includes:

• Kerns-Syre syndrome;
• mitochondrial encephalomyopathy;
• myoclonus epilepsy with "torn red fibers".

In addition to these diseases, there are a number of rare types of myopathies that affect the central rod, the endocrine system, etc.

With an active course, myopathy can lead to disability and further immobilization of the patient.

Secondary progressive muscular dystrophies

The disease is associated with a disruption in the functioning of peripheral nerves, a disruption in the supply of organs and tissues with nerve cells. As a result, muscle wasting occurs.

There are three types of secondary progressive muscular dystrophy: congenital, early childhood and late. In each case, the disease proceeds with a greater or lesser degree of aggression. For people with this diagnosis, the average life expectancy is between 9 and 30 years.

Congenital non-progressive myopathies

These include hereditary non-progressive or slightly progressive muscle diseases diagnosed in the prenatal period or immediately after the birth of the baby. The main symptom is muscle hypotension with pronounced weakness. This disease is otherwise called "sluggish child syndrome", which accurately characterizes his condition.

In most cases, the region of the lower extremities is affected, less often the upper ones, in exceptional cases there is a lesion of the cranial muscles - a violation of facial expressions, eye movements.

In the process of development and growth of the child, problems with motor skills are noted, children often fall, start to sit and walk late, cannot run and jump. There are no intellectual disabilities. Unfortunately, this type of myopathies is incurable.

Symptoms

With all types of myopathies, the main symptom is muscle weakness. Most often, the muscles of the shoulder girdle, hips, pelvic region, and shoulders are affected. Each type is characterized by damage to a specific muscle group, which is important to consider when diagnosing. The defeat occurs symmetrically, so he is able to perform actions in stages, gradually including various areas in the work.

If the legs and pelvic region are affected, in order to get up from the floor, you must first lean your hands on the floor, kneel, take hold of the support, and after that the patient can sit on a chair or bed. On his own, without resorting to the help of his hands, he will not be able to get up.

With myopathy, cases of damage to the muscles of the face are the least common. This is ptosis (drooping of the upper eyelid), drooping upper lip. There are problems with speech caused by a violation of articulation, a violation of the swallowing function is possible.

Most myopathies occur with almost the same symptoms. Over time, atrophy of the muscle tissue occurs, against the background of which the connective tissue actively grows. Visually, it looks like trained muscles - the so-called. pseudohypertrophy. In the joints themselves, a contracture is formed, the muscle-tendon fiber is pulled together. As a result, pain appears and joint mobility is limited.

Myoplegia

Like myopathies, these are hereditary neuromuscular diseases characterized by bouts of muscle weakness or limb paralysis. There are the following types of myoplegia:

• hypokalemic;
• hyperkalemic;
• normokalemicheskaya.

An attack of myoplegia is caused by a redistribution of potassium in the body - there is a sharp decrease in the intercellular fluid and plasma, and an increase (overabundance) in the cells. In muscle cells, there is a violation of the polarization of membranes, there is a change in the electrolytic properties of muscles. During an attack, the patient has a sharp weakness of the limbs or torso, manifestations in the pharynx, larynx, effects on Airways. This can lead to death.

myasthenia gravis

The disease most often affects women (2/3 of total patients). It has two forms - congenital and acquired. With this disease, there is a violation of the transmission of nerve impulses, resulting in weakness in the striated muscles.

The disease is associated with a change in the functions of the neuromuscular system. Weakening muscles affect the normal functioning of the organs: the patient may have permanently half-closed eyelids, urination is disturbed, and there are difficulties in chewing and walking. As a result, the disease can lead to disability and even death.

Motor neuron disease (MND)

Motor neuron diseases are characterized by damage to the motor neurons of the brain and spinal cord. The gradual death of cells affects the function of the muscles: they gradually weaken, and the affected area increases.

The brain neurons responsible for movement are located in the cerebral cortex. Their branches - axons - descend to the region of the spinal cord, where contact with the neurons of this department takes place. This process is called a synapse. As a result, the neuron of the brain allocates a special Chemical substance(transmitter) that transmits a signal to the neurons of the spinal cord. These signals are responsible for the contraction of the muscles of various departments: cervical, thoracic, bulbar, lumbar.

Depending on the severity of neuronal damage and their localization, several types of BND are distinguished. In many ways, the manifestations of the diseases are the same, but as the disease progresses, the difference becomes more and more significant.

There are several different types of BND:

amyotrophic lateral sclerosis

It is one of the four main types of motor neuron disease. It occurs in 85% of patients diagnosed with motor neuron disease. The affected area can be both neurons of the brain and spinal cord. As a result, muscle atrophy and spasticity occur.

In ALS, there is weakness and increasing fatigue in the limbs. Some people have weakness in the legs when walking and weakness in the arms, in which it is impossible to hold things in the hands.

In most cases, the disease is diagnosed before the age of 40, while the disease does not affect intelligence at all. The prognosis for a patient diagnosed with ALS is not the most favorable - from 2 to 5 years. But there are exceptions: the most famous of all the people who lived with this diagnosis for more than 50 years is Professor Stephen Hawking.

Progressive bulbar palsy

Associated with impaired speech and swallowing. The prognosis from the time of diagnosis is up to three years from the moment of diagnosis;

Primary literal sclerosis

Affects only the neurons of the brain and affects the lower limbs. In rare cases, it is accompanied by impaired hand movements or speech problems. In more late stages can go to ALS.

progressive muscular atrophy

Occurs when the motor neurons of the spinal cord are damaged. The first manifestations are expressed in the weakness of the hands. The prognosis for this disease is 5 to 10 years.

Diagnostics

To establish an accurate diagnosis, it is important to conduct the following studies:

• biochemical. Determination of muscle enzymes, especially creatine phosphokinase (CPK). The level of myoglobin and aldolase is determined;
• electrophysiological. Electromyography (EMG) and electroneuromyography (ENMG) help in differentiating between primary and secondary myopathy. They also help to identify what is suffering primarily - spinal cord or peripheral nerve;
• pathomorphological. They include a muscle biopsy. The study of the material also helps to differentiate primary or secondary myopathy. Determining the level of dystrophin makes it possible to distinguish Duchenne myopathy from Becker's myodystrophy, which is important for prescribing the correct treatment;
• DNA-diagnostics. The study of DNA-leukocyte allows to reveal hereditary diseases in 70% of patients.

Treatment of neuromuscular diseases

When making one of the diagnoses related to neuromuscular diseases, in each specific case treatment is selected individually, taking into account all the analyzes received. The patient and his relatives should initially understand that this is a long and very difficult process requiring large financial outlays.

Difficulties in prescribing treatment are also associated with the fact that it is not always possible to accurately determine the primary metabolic defect. At the same time, the disease is constantly progressing, which means that treatment should first of all be aimed at slowing down the development of the disease. This will help preserve the patient's ability to self-care and affect his quality of life.

Methods for the treatment of neuromuscular diseases

• Correction of skeletal muscle metabolism. Prescribed drugs that stimulate metabolism, potassium preparations, vitamin complexes, anbolic steroids;
• Stimulation of the segmental apparatus. Neurostimulation, myostimulation, reflexology, balneotherapy, physiotherapy exercises (exercises and load are selected individually);
• Blood flow correction. Different kinds massage, thermal procedures for certain areas, oxygen barotherapy;
• Diet and parenteral nutrition to provide the body with all the necessary nutrients - protein, potassium salts, vitamins of the desired group;
• Corrective sessions with an orthopedist. Correction of contractures, deformities chest and spine, etc.

To date, no medicine has been invented, from taking which any person will become absolutely healthy in an instant. Despite the complexity of the situation, it is important for a patient with a neuromuscular disease to continue the best possible quality of life. The example of Hawking, who was confined to a wheelchair for more than 50 years, but continued to conduct research, suggests that the disease is not a reason to give up.

Neuromuscular diseases (NMD) are the most numerous group of hereditary diseases, which are based on genetically determined damage to the anterior horns of the spinal cord, peripheral nerves and skeletal muscles.

Neuromuscular diseases include:

1) progressive muscular dystrophies (primary myopathies);

2) spinal and neural amyotrophies (secondary myopathies);

3) congenital non-progressive myopathies;

4) neuromuscular diseases with myotonic syndrome;

5) paroxysmal myoplegia;

6) myasthenia gravis.

15.2. Progressive muscular dystrophies (primary myopathies)

Progressive muscular dystrophies (PMD), or primary myopathies, are characterized by degenerative changes in muscle tissue.

Pathological changes PMD is characterized by thinning of the muscles, replacing them with adipose and connective tissue. The foci of focal necrosis are revealed in the sarcoplasm, the nuclei of the muscle fibers are arranged in chains, the muscle fibers lose their transverse striation.

Pathogenesis issues remain unresolved to date. Myopathy is based on a defect in the membrane of muscle cells. Great hopes are placed on molecular genetics.

Various forms of myopathy differ in the type of inheritance, the timing of the onset of the process, the nature and speed of its course, and the topography of muscle atrophy.

Myopathies are clinically characterized by muscle weakness and atrophy. There are various forms of PMD.

15.2.1. Duchenne myodystrophy (pseudohypertrophic form of PMD)

It occurs most frequently of all PMD (30:100,000). This form is characterized by an early onset (2-5 years) and a malignant course, predominantly boys are ill. Duchenne myopathy is inherited in an X-linked recessive manner. The pathological gene is localized in the short arm of the chromosome (X, or chromosome 21).

The mutation of the gene is quite high, which explains the significant frequency of sporadic cases. Mutation (most often deletion) of the gene leads to the absence of dystrophin in the membrane of muscle cells, which leads to structural changes in the sarcolemma. This promotes the release of calcium and leads to the death of myofibrils.

One of the first signs of the disease is the compaction of the calf muscles and a gradual increase in their volume due to pseudohypertrophy. The process is ascending. The advanced stage of the disease is characterized by a "duck" gait, the patient walks, waddling from side to side, which is mainly due to weakness of the gluteal muscles.

As a result, there is a tilt of the pelvis towards the non-supporting leg (Trendelenburg phenomenon) and a compensatory tilt of the torso in the opposite direction (Duchenne phenomenon). When walking, the side of the slope changes all the time. This can be checked in the Trendelenburg position by asking the patient to raise one leg, bending it at a right angle at the knee and hip joint: the pelvis on the side of the raised leg drops (and does not rise as normal) due to weakness of the gluteus medius muscle of the supporting leg.

With Duchenne myopathy, pronounced lordosis, pterygoid scapulae, typical muscle contractures, and knee jerks often fall out early. It is often possible to detect changes in the skeletal system (deformity of the feet, chest, spine, diffuse osteoporosis). There may be a decrease in intelligence and various endocrine disorders (adiposogenital syndrome, Itsenko-Cushing's syndrome). By the age of 14-15, patients are usually already completely immobilized; in the terminal stage, weakness can spread to the muscles of the face, pharynx, and diaphragm. They die most often in the 3rd decade of life from cardiomyopathy or the addition of intercurrent infections.

A distinctive feature of Duchenne myopathy is a sharp increase in a specific muscle enzyme - creatine phosphokinase (CPK) by tens and hundreds of times, as well as an increase in myoglobin by 6-8 times.

For medical genetic counseling, it is important to establish heterozygous carriage. In 70% of heterozygotes, subclinical and clinical signs of muscle pathology are determined: compaction and increase calf muscles, rapid muscle fatigue during exercise, changes in muscle biopsy specimens and biopotentials according to EMG.

Muscular diseases are diseases of the striated muscles, which a person can consciously control (in contrast to the muscles of the internal organs - smooth, which is controlled unconsciously, with the help of the autonomic nervous system). Such diseases include ruptures due to mechanical injuries, congenital or acquired diseases of an inflammatory nature or developing against the background of a deficiency of minerals or enzymes, due to autoimmune disorders.

Muscle disease symptoms

The striated muscle tissue is an active part of the human motor apparatus and is responsible for moving the body in space. Muscles are the structural functional unit of skeletal muscle tissue; they are symplastic structures ranging in length from a few millimeters to 10-12 cm. There are about 600 skeletal muscles of the neck, trunk, head, upper and lower extremities in the body..

Violations of the functional state of an individual muscle or an entire muscle group caused by mechanical damage, inflammation, dystrophic changes, malformations or tumors are called muscle tissue diseases. Muscle diseases can have a different nature (cause) and localization, are usually accompanied by a number of the following common symptoms:

• acute or aching pain in the area of ​​the development of the disease - the neck, shoulder girdle, chest, lower back, back, femoral or calf muscles, etc .;
• increased pain on palpation (pressure) or with an increase motor activity;
• pain syndrome in the muscles of varying severity, accompanying the exit from a state of rest (for example, when getting up in the morning);
• redness of the skin, swelling in the area of ​​​​the focus of the disease;
• detection of nodules or swelling on the muscle during palpation;
• muscle weakness, accompanied by atrophy of varying severity;
• feeling of difficulty and pain when performing the simplest movements (turning the head, tilting the body).

Localization of muscle diseases

Depending on the location of the focus of the pain syndrome, all diseases of the muscles and tendons can be classified according to the location of the pathological processes. Muscular diseases are common in the following areas of the human body:

1. Neck: muscle diseases can be caused colds, overvoltage due to long stay in an uncomfortable position, hypothermia. Characteristic symptoms- sharp or aching pain, difficulty in turning or tilting the head.
2. Back: pain in dorsal muscles occur with excessive stress, some rheumatological diseases, birth defects, inflammation. Symptoms - aching pain in the lower back, aggravated by palpation and increased motor activity, in some cases - even at rest.
3. Legs: characteristic feature that accompanies the disease of the leg muscles is a pronounced pain syndrome at rest. The causes of diseases can be injuries (stretching, ruptures), inflammation, infections, autoimmune diseases, lack of nutrients in the body, hormonal disruptions.
4. Chest: in diseases of the pectoral muscles, pain is felt along the entire length of the ribs, without aggravation when pressing on specific points. Without laboratory diagnosis, diseases of this muscle group can be misdiagnosed as neuralgia due to the similarity of symptoms.

Types of muscle diseases

Main muscle diseases subdivided into groups of diseases that have a similar nature of occurrence, characteristic symptoms and course, methods of treatment. There are the following pathologies:

Convulsive syndrome is common among the elderly, professional athletes and other categories of citizens whose activities are associated with increased physical activity. It can be provoked by malnutrition and occur against the background of a lack of a number of minerals in the body. Cramps are a sharp contraction of the muscle fiber, including at rest, occurring at night or during the day. The hardening of the tissues of the striated muscles persists for some time, accompanied by a strong acute pain.

Treatment convulsive syndrome is based on a mechanical relaxing effect (massages, warm baths), combined with a revision of the mode of activity and rest. An important role is played by the restoration of the water-salt balance by increasing the amount of liquid drunk daily, and the introduction of foods with vitamin E and potassium into the diet. Drug therapy is not required, it is possible to prescribe a course of physiotherapy.

Rheumatic diseases

Muscle inflammation, originally caused by streptococcal infection, accompanied by neurodystrophic processes in tissues and a complex immunobiological reaction, is called rheumatic myositis. The source of damage can be either the muscle itself or the blood vessels that feed it. When the disease progresses to chronic form factors provoking relapses are hypothermia, colds, allergic attacks. The main clinical signs of rheumatic processes are:

• acute severe pain attacks in the muscles of the lower back and thighs;
• migrating joint pain;
• difficulty in movement;
• increase in body temperature;
• swelling of the joints, the appearance of rheumatic nodules.

Inflammation of muscle tissue is treated with the use of glucocorticosteroids (hormonal drugs), local non-steroidal anti-inflammatory drugs (ointments, gels) and systemic action (tablets or injections). The drugs of choice are diclofenac, ibuprofen and acetylsalicylic acid. Develop effective scheme therapy can only be a specialist. After the disappearance of pain, the use of physiotherapy procedures is practiced.

muscle tear

Injury as a result of excessive load, accompanied by rupture of muscle fibers or the whole muscle, is a common mechanical damage to the muscles during sports or as a result of accidents. The injury causes severe pain at the site of the rupture, possibly the appearance of a depression in the tissue, noticeable on palpation. Ice is used as a first aid to relieve pain and prevent the development of a hematoma. The method of treatment is surgery, after healing, therapeutic exercises are prescribed.

Myopathy

A decrease in muscle tissue, accompanied by atrophy, abnormally large or small sizes of atonic muscles, twitching of individual fibers, cramps and pain, is called congenital endocrine myopathy, which develops due to impaired adrenal function or thyroid gland. The patient needs a special diet and gentle therapeutic exercises.

Myositis

Inflammation of skeletal muscles against the background of toxic damage, infectious or autoimmune infection, due to increased mobility during traumatic damage, is called myositis. The main symptoms of the disease are aching muscle pain, muscle weakness and fatigue, and difficulty in movement. Treatment depends on the nature of the inflammatory process, the treatment regimen is similar to that of rheumatic diseases (anti-inflammatory drugs, hormonal therapy, physiotherapy).

Deficiency of minerals or enzymes

Muscle diseases can be caused by a lack in the diet of substances necessary for the full functioning of the muscles. Diagnosed potassium or calcium deficiency causing seizures or paralysis is treated with potassium-containing medications and increased exercise intensity. Deficiency of enzymes involved in the breakdown of glycogen and glucose (the main sources of muscle energy) is congenital, accompanied by weakening of the muscles and requires restrictions on physical activity.