Diseases of the nervous system have always been considered one of the most complex and difficult to treat. drug treatment pathological conditions. This is due to the fact that nervous system represents the most developed and highly differentiated structure human body, whose cells are practically incapable of self-healing. If there is a death of any one nerve fiber, then this phenomenon is completely irreversible. The result of such a process will be an irretrievable loss of the functional abilities of that anatomical region, for the innervation of which the dead fiber was responsible. Many nervous disorders are the result of genetic defects that can be passed down from generation to generation.

A prime example of hereditary pathological condition is Duchenne myopathy. A similar disease is transmitted by an autosomal recessive type of hereditary reaction and is more often manifested among the male part of the population of our planet. The latter fact is due to the fact that this inheritance is linked to the sex chromosomes. The disease is based on a defect in the gene responsible for the synthesis of the important protein dystrophin, which is involved in maintaining the anatomical structure of the muscle fiber. Due to the lack of dystrophin protein, muscle tissue undergoes a series of changes, as a result of which the muscles are replaced by fibrous and adipose tissue, in other words, it atrophies. Due to the fact that Duchenne myopathy is hereditary, it begins to manifest itself already in early childhood. Parents pay attention that their child quickly gets tired of the slightest physical activity, becomes lethargic, soon his gait may even change and the bone skeleton may be deformed.

In the future, the pathological process only progresses, because. absolutely all the muscles of the human body are subject to it. Eye myopathy is not typical for this pathology. The muscles of the limbs, torso, and heart are more affected. When the myocardium is involved in the process, secondary cardiomyopathy occurs, the heart rhythm is disturbed. Often the pathology of cardio-vascular system serves main reason death of patients diagnosed with Duchenne myopathy. Cardinal methods of therapy for this disease still do not exist. The main principle of treatment is to improve the quality and prolong the life of a person.

Duchenne myopathy can be compensated long time by taking corticosteroids medicines. On average, a patient needs about 800 mg of prednisolone daily for every kilogram of weight. In the initial stages, protein complexes with a high content of amino acids, anabolic steroids, that is, everything that can stimulate the growth of muscle tissue, are very effective. The treatment necessarily includes L-carnitine, B vitamins (B1, B6, B12, etc.), biostimulants (aloe), alpha-lipoic acid, drugs from the group of antioxidants. Otherwise, with this pathology, procedures should be carried out that improve trophism in the muscles. These are various physiotherapy techniques, sessions of physiotherapy exercises and regular therapeutic massage. All this helps to reduce the progression of the disease and the development of joint and muscle contractures, which significantly limit the patient's motor activity. In order to reduce stiffness, various orthopedic mechanisms and structures are used. In more severe cases, when contractures are pronounced and interfere not only with movement, but even with sitting and lying down, surgical operations are performed for palliative purposes.

Duchenne?

There are many types of muscular dystrophy, all caused by a disorder in genes (the units of heredity passed from parent to child). In Duchenne muscular dystrophy (DMD), a lack of the protein dystrophin causes muscle deterioration and breakdown, leading to progressive difficulty walking and general mobility. DMD is the most common and one of the most rapidly progressive childhood neuromuscular diseases. Approximately one in 3,000 newborn boys in the world suffers from this disease. DMD only affects boys (with very rare exceptions).

How is Duchenne muscular dystrophy inherited?

In Duchenne muscular dystrophy, the defective gene is X-linked. This means that this gene is located on the X chromosome. Women have two X chromosomes, while men have one X chromosome, which they inherit from their mother, and one Y chromosome, which they inherit from their father. In about two-thirds of the cases, the defective gene is passed on to the son via the mother's defective X chromosome. In these cases, the mother is the "carrier" who, in most cases, does not show any symptoms of the disease. This is because this gene is "recessive", which means that her normal X chromosome will be dominant and produce dystrophin normally. Only a very small number of carriers have a moderate degree of muscle weakness, which is usually limited to the shoulders and hips, and such women are called "emergent carriers". The genetic disorder may have occurred in a previous generation in which there was a family predisposition to the disease. However, in about one-third of cases of DMD, the genetic disorder occurs in the boy himself, and then it is called a "spontaneous mutation."

Why is genetic counseling so important?

Each son of a carrier woman has a 50% chance of inheriting DMD from his mother's defective X chromosome, and each daughter has a 50% chance of becoming a carrier of the disease in the same way. Immediately after the diagnosis of DMD, genetic counseling should be sought, as well as proper testing of family members who may be carriers. During the consultation, you will receive information about the sequence of heredity and about the danger to other family members, as well as a "prognosis" ( possible consequences disease). Information about diagnostic testing is also provided during this consultation, including prenatal testing and carrier testing.

How is DMD diagnosed?

Symptoms

DMD disease is often difficult to diagnose as symptoms vary, and if the family does not have the disease, DMD may not be suspected. It is quite common to have a delay in the start of walking, when the child takes his first steps at about eighteen months. A boy with DMD may often fall when walking. He often has difficulty climbing stairs, difficulty running and jumping, and may develop a "duck" gait. The classic symptom is enlargement (hypertrophy) of the calf muscles, which occurs in about 90% of cases. He may develop a tendency to walk on his toes, which is often accompanied by a protruding abdomen and knee joints legs, and is called "lordosis". It may be difficult for him to get up off the floor without help. To help himself, he can climb his legs with his hands - this is called the "sign of Goverz." These symptoms usually begin between the ages of one and three and continue to progress until he needs a wheelchair, most often between the ages of eight and twelve.

Creatine phosphokinase assay
Laboratory testing of DMD begins with an analysis of a muscle enzyme called creatine phosphokinase. Due to the lack of dystrophin in the muscle fibers, creatine phosphokinase leaks out of the damaged muscle and appears in the blood in large quantities. A blood test can show creatine phosphokinase levels that are 50 to 100 times normal. Although this enzyme is often slightly elevated in other types of dystrophy (including Becker's associative muscular dystrophy), it is much higher in DMD. Approximately 70% of DMD carriers will also have slightly elevated levels of creatine phosphokinase. Therefore, a high level of creatine phosphokinase indicates that the muscles themselves are the likely cause of weakness, but does not tell us with 100% certainty what muscle disease it might be.

DNA study
Currently, in order to establish an accurate one, DNA is being studied using new technologies. Genes are made up of segments of DNA (deoxyribonucleic acid), and the corresponding portions of this genetic material can be examined under a microscope. Anomalies that cause DMD can be of three types: deletion (missing parts), duplication (additional parts), or point mutation (altered parts). The study of DNA is often time-consuming and technically difficult and, depending on the genetic defect, may give indeterminate results. In some cases, these studies can provide accurate information about the genetic abnormality causing DMD, while in other cases, the abnormality cannot be accurately identified. This also applies to the diagnosis of female carriers. DNA testing may also be done before birth in an unborn child if the family has had the condition.

Muscle biopsy
If DNA testing does not provide a clear picture, a muscle biopsy may be required. A small piece of muscle tissue, usually from the thigh, is removed with a needle. Using a special staining method in the laboratory, muscle tissue is examined under a microscope for the presence of dystrophin. In DMD, the analysis shows the absence of dystrophin, while in the related disease, Becker muscular dystrophy, a small amount of dystrophin is present. Therefore, analysis of muscle biopsy is necessary to establish precise analysis in cases where it is not known whether anyone in the family had this disease, or when DNA analysis did not give definite results.

Only two diseases can cause difficulties in diagnosing DMD: Becker muscular dystrophy and limb girdle muscular dystrophy. The tests mentioned above, especially the muscle biopsy, can distinguish between these diseases.

Is DMD curable?

There is currently no cure for DMD, but large-scale research in this area continues around the world. Researchers have made significant progress in understanding DMD and continue to search for a cure. Some of the areas that research is currently focusing on are:

There are a huge number of different diseases that occur in children, regardless of circumstances or actions. environment. This is the category of hereditary diseases. Now we will talk about such a problem as Duchenne muscular dystrophy: what kind of illness is this, what are its symptoms and whether it can be dealt with.

Terminology

Initially, you need to find out what So is, these are diseases that arise as a result of defects in the apparatus of hereditary cells. That is, these are certain failures that occur at the genetic level.

muscular dystrophy Duchenne is a hereditary disease. It manifests itself very quickly, the main symptom in this case is a rapidly progressive weakness in the muscles. It should be noted: like all other muscular Duchenne also leads to impaired motor skills and, of course, disability. In adolescence, children with this diagnosis are no longer able to move independently and cannot do without outside help.

What happens at the genetic level

As already noted, Duchenne muscular dystrophy is So, a mutation occurs in the gene that is responsible for the production of a special dystrophin protein. It is he who is necessary for the normal functioning of muscle fibers. At the same time, it is important to note that this genetic mutation It can either be inherited or occur spontaneously.

It is also important to note that the gene is localized on the X chromosome. But women cannot get sick with this disease, being only a transmitter of the mutation from generation to generation. That is, if a mother passes the mutation on to her son, he will get sick with a 50% chance. If the girl, she simply will be the carrier of the gene, she will not have clinical manifestations of the disease.

Symptoms: groups

Basically, the disease actively manifests itself at about 5-6 years of age. However, the first symptoms may occur in a baby who has not yet reached the age of three. It should be noted that all pathological disorders of the medical system are conditionally divided into several large groups:

1. Muscle damage.
2. Damage to the heart muscle.
3. Deformation of the child's skeleton.
4. Various endocrine disorders.
5. Violations of normal mental activity.

The most common manifestations of the disease

Be sure to also talk about how Duchenne syndrome manifests itself. The symptoms are as follows:

• Weakness. Which gradually grows and develops.
• It starts progressing precisely from the upper limbs, then the legs are affected, and only then - all other parts of the body and organs.
• The child loses the ability to move independently. By about 12 years of age, such children are already completely dependent on a wheelchair.
• There are also disorders of the respiratory system.
• And, of course, there are violations in the work of the cardiological system. Later, irreversible changes occur in the myocardium.

About skeletal muscle damage

It is muscle tissue damage that is the most common symptom when it comes to such a problem as Duchenne syndrome. It should be noted that children are born without any special deviations in development. At a young age, children are less active and mobile than their peers. But most often this is associated with the temperament and character of the child. Therefore, deviations are very rarely noticed. More significant signs appear already while the baby is walking. Such children can move on their toes without standing on a full foot. They also fall frequently.

When the boy can already speak, he constantly complains of weakness, pain in the limbs, fatigue. Such crumbs do not like to run, jump. They do not like any physical activity, and they try to avoid it. "Say" that the baby has Duchenne muscular dystrophy, maybe even a gait. She becomes like a duck. The boys seem to be shifting from foot to foot.

A special indicator is also the symptom of Gowers. That is, the child, in order to get up from the floor, actively uses his hands, as if climbing on himself.

It should also be noted that with such a problem as Duchenne syndrome, the child's muscles gradually atrophy. But it often happens that in the crumbs outwardly the muscles seem to be very developed. The boy, even at the first vskidka, turns out to be pumped up, as it were. But this is just an optical illusion. The thing is that in the process of illness, muscle fibers gradually disintegrate, and adipose tissue takes their place. Hence, such an impressive appearance.

A little about the deformation of the skeleton

If a child has progressive Duchenne muscular dystrophy, then the shape of the skeleton will gradually change in the boy. First, the pathology will affect the lumbar region, then scoliosis will occur, that is, the curvature of the thoracic spine will occur. Later, stoop will appear and, of course, the normal shape of the foot will change. All these symptoms will be accompanied by a deterioration in the baby's motor activity to an even greater extent.

About the heart muscle

A mandatory symptom in this disease is also damage to the heart muscle. There is a violation of the rhythm of the heart, there are regular drops in blood pressure. In this case, the heart increases in size. But him functionality on the contrary, they decrease. And as a result, heart failure gradually develops. If this problem is still combined with respiratory failure, then there is a high probability of death.

Mental Disorders

It should be noted that Duchenne-Becker muscular dystrophy is not always manifested by such a symptom, as this may be due to a deficiency of a substance such as apodystrophin, which is necessary for the brain to function. Intellectual disabilities can be very different - from mild mental retardation to idiocy. The aggravation of these cognitive disorders is also facilitated by the inability to attend kindergartens, schools, clubs and other places where children gather. The result is social maladaptation.

Disorders of the endocrine system

Various endocrine disorders occur in no more than 30-50% of all patients. Most often this is excess weight, obesity. At the same time, children also have a lower growth than their peers.

Outcome of the disease

What is the clinical and epidemiological characteristics of Duchenne muscular dystrophy? So, the incidence of the disease is 3.3 patients per 100 thousand healthy people. It should be noted that muscle atrophy gradually progresses, and by the age of 15 the boy can no longer do without the help of others, being completely immobilized. In addition, there is also a frequent attachment of various bacterial infections (most often it is the genitourinary and respiratory systems), with improper care of the child, bedsores occur. If problems with the respiratory system are combined with heart failure, it is fatal. Generally speaking, such patients almost never live more than 30 years.

Diagnosis of the disease

What procedures can help diagnose Duchenne muscular dystrophy?

1. Genetic testing, that is, DNA analysis.
2. Electromyography, when the primary muscle change is confirmed.
3. A muscle biopsy, when the presence of dystrophin protein in the muscle is determined.
4. Blood test to determine the level of creatine kinase. It should be noted that it is this enzyme that indicates the death of muscle fibers.

Treatment

It is impossible to completely recover from this disease. You can only alleviate the manifestation of symptoms, which will make the life of the patient a little easier and more convenient. So, after the patient is diagnosed with such a diagnosis, most often he is prescribed therapy with glucocorticosteroids, which are designed to slow down the development of the disease. Other procedures that can also be used for this problem:

• Additional ventilation of the lungs.
• Therapy with medicines, which is aimed at normalizing the work of the heart muscle.
• The use of various devices that increase the mobility of the patient.

It is also important to note that the latest techniques are being developed today, which are based on stem cell transplantation as well.

Other muscle diseases

There are also other muscular congenital diseases of children. Such diseases include, in addition to Duchenne dystrophy:

• Becker's dystrophy. This disease is very similar to Duchenne syndrome.
• Dreyfus muscular dystrophy. It is a slowly progressive disease in which intelligence is preserved.
• Erb-Roth progressive muscular dystrophy. Manifested in adolescence, progression is rapid, disability occurs early.
• The humeroscapular-facial form of Landouzy-Dejerine, when muscle weakness is localized in the face, shoulders.

It should be noted that none of these diseases manifests muscle weakness in newborns. All symptoms occur mainly in adolescence. The life expectancy of patients most often does not exceed 30 years.

The disease, called Duchenne dystrophy, is associated with damage to the gene structures responsible for the production of the large muscle protein dystrophin. Such a pathology is transmitted by heredity, by an autosomal recessive type of inheritance: that is, this pathology, as it were, is hidden, or manifests itself through a generation. This type is linked to the X chromosome.

ICD-10 code

G71.0 Muscular dystrophy

Causes of Duchenne dystrophy

Pathology appears due to a gene mutation that occurs in the xp21 region. More than a quarter of these pathologies are associated with a persistent change in the genotype in the maternal egg. The remaining cases are explained by the heterozygosity of the patient's mother for the pathology of mutagenesis in the dystrophin gene.

It is generally accepted that approximately 7% of all recurrent cases of the disease are the result of the formation in the female ovary of several cell generations with mutated and normal dystrophin alleys. At the same time, the most common type of mutation (about 65%) is a significant loss of chromosome sections. In 5% of patients, a doubling of a chromosome region is found, and in the remaining cases of pathology, a point mutation is detected, when one or more nucleotides are affected, while longer gene defects are related to mutations.

Pathology is transmitted in an autosomal recessive manner, with a hitch to the X chromosome (affects males). More than half of these pathologies occur spontaneously, due to gene mutation.

In a genetic examination, the identification of hidden signs of the disease in the patient's sisters plays an important role. From such a carrier of the mutated gene, the pathology of 50% of her male children can be transmitted, and 50% of her daughters will become the same carriers of the mutated gene.

Women who have the damaged gene share it with their child, although they themselves do not suffer from myopathy. Boys are mostly affected. Girls can also get sick, but this happens extremely rarely: this can only happen with a defect in the structure of the chromosomes.

Symptoms of Duchenne Dystrophy

The initial symptoms of Duchenne dystrophy can be noticed as early as the age of 1 to 5 years. For a sick child, inhibition of early motor activity is characteristic. When trying to walk on their own (in children older than 1 year), you can observe constant falls, entanglement of the legs, and rapid fatigue. If the baby still begins to walk, then at the same time he rolls over from foot to foot (duck gait), it is difficult for him to climb the stairs and get up from his knees.

Gradually, in small patients, an increase in the volume of various muscle groups occurs, which outwardly looks like strongly pumped up muscles. With the further course and aggravation of the pathology, such an increase, on the contrary, turns into a decrease in muscles.

The disease spreads through the body in an ascending way: from the muscles of the legs and pelvis to the back, shoulders and arms.

Already at the initial stages of the disease, a decrease in tendon reflexes can be observed. Further, the curvature of the spine develops, the chest becomes saddle- or keeled, the feet are deformed. There are problems with the heart muscle: there are signs of a violation heart rate and left ventricular hypertrophy. A quarter of patients show symptoms of mental retardation: most often this is manifested by signs of oligophrenia.

Approximately by the age of 12, patients stop walking, after 2-3 years they completely lose the ability to move. In 20-30 years, more of these patients die. In the later stages of the disease, muscle weakness extends to the respiratory and swallowing systems. Death comes from the joined bacterial infections or from a lack of respiratory and cardiac activity.

Forms

Duchenne muscular dystrophy

Duchenne muscular dystrophy, fortunately, is relatively rare and manifests itself in muscle weakness. According to statistics, this pathology occurs in approximately one baby out of 3,000 newborns. In addition, several rather rare forms of myopathy are known, which differ in less pronounced manifestations.

The development of muscular dystrophy is associated with the slow destruction of the connections between nerve and muscle fibers.

Girls born to a mother with a damaged gene can also become a carrier of such damage, although they almost never show the disease.

In addition to Duchenne dystrophy, medicine also distinguishes other types of myopathies that are extremely rare:

• Becker's syndrome (also affects boys, has a congenital type, but manifests itself only at puberty and recedes by about 45 years);
• congenital form of myopathy (affects babies regardless of gender, but can occur, one might say, only in isolated cases);
• scapular-shoulder-facial form of myopathy - does not appear immediately, but for about 10 years. With pathology, weakness is noted facial muscles, sluggish reaction of the muscles of the face when trying to express certain emotions;
• Emery-Dreyfus pathology (a similar type of myopathy with negative consequences for the myocardium).

Progressive Duchenne Dystrophy

Duchenne progressive dystrophy is the most serious form of myopathy. It develops in infancy, usually in children under 3 years of age, occasionally at an older age. In almost all patients (with a few exceptions) there is an increase in the size of the calf muscles (sometimes in conjunction with the deltoid and quadriceps muscles). This increase is often associated with fatty infiltration of the muscles, but in some cases it is the muscles that actually increase.

Volume reduction muscle mass observed mainly in the back and pelvic girdle. Along with atrophic disorders, the presence of mental retardation can often be noted.

Violations of the integrity and shape of bones are not uncommon, even due to minor loads and injuries. After 5-10 years from the first manifestations of the pathology, damage to the heart muscle can be detected, which is expressed by tachycardia and ECG disorders. A characteristic feature is considered to be increased activity of serum creatine kinase.

In general, the disease is more severe than in other forms of myopathy. Atrophic changes quickly spread throughout the body. Most of the patients by the age of 10 are practically unable to move. Such patients are extremely rarely able to live up to 30 years, dying from concomitant diseases.

Diagnosis of Duchenne dystrophy

The diagnosis of Duchenne dystrophy must be confirmed by genetic testing, but in some cases other tests may be ordered.

1. A genetic test is carried out unambiguously, even if the doctor is sure that the patient has muscular dystrophy. Using this method, you can determine the clear characteristics of pathological disorders in DNA. In addition to making a diagnosis, this study will help parents decide on future pregnancies. Also, the results of a genetic test will be useful to relatives of the mother who carries the mutated gene.
2. Your doctor may recommend a muscle fiber biopsy. Such a study will show whether the protein dystrophin is produced in the body, and if it is produced, then in what quantity. Using a biopsy, specialists determine the exact amount of protein in myocytes. But a biopsy cannot be a substitute for genetic analysis!
3. The method of electromyography (determination of the conduction of nerve impulses) was relevant a few years ago, but now it is optional.
4. A blood test for creatine kinase: with Duchenne dystrophy, the amount of this enzyme is significantly higher than normal.
5. Assessment of cardiac activity, respiratory system, muscle capabilities, ECG, determination of cardiac biological markers and bone density.

It is very important to determine the exact diagnosis if specialists suspect myopathy in a child. And it needs to be done as soon as possible. The doctor will prescribe a qualified treatment based on these studies, after having a conversation with the parents and explaining to them all the features of the disease.

Treatment of Duchenne dystrophy

Currently, there is no cure for Duchenne dystrophy. Although scientific research on this topic is being carried out quite intensively: scientists from Great Britain, Israel and the United States are working on this. The latest methods under development:

• Exon skipping is a procedure that slows down the rate of myopathy progression. This method softens the course of the disease, significantly alleviates the symptoms, but does not eliminate the mutation;
• introduction of the dystrophin gene using viral gene carriers or plasmids - allows patients to retain the ability to move and walk for a longer time, which greatly improves their quality of life;
• transplantation of myogenic cells is the introduction of fibroblasts, which enhances the synthesis of new unmutated dystrophin. This method has a number of advantages: it is a long-term positive result, the ability to combine the procedure with other treatment methods, the possibility of using it at almost any age and controlled production of new dystrophin;
• restoration of muscle fibers using embryonic stem cells, muscle stem cells - these methods improve muscle regeneration, allow dystrophin to be produced in large quantities, strengthen muscle structure and significantly restore muscle function;
• regulation of utrophin to replace dystrophin - a method based on experiment proving that the same symptoms are observed with a lack of utrophin as with a lack of dystrophin. These proteins are similar in structure and function. Through long scientific research the scientists concluded that utrophin gene regulation could be applied as a treatment for Duchenne dystrophy;
• blocking myostatin. Myostatin is an inactive protein that has the ability to trigger biochemical processes that inhibit muscle formation. Accordingly, blocking this protein should promote the growth of muscle tissue;
• blocking the transforming growth factor β - a protein that inhibits the function of myosateliocytes (myogenic stem cells). This method will help reduce the degree of fibrosis;
• upregulation of insulin-like growth factor-1, a protein similar in structure to insulin. Growth factor-1 improves the quality of muscle tissue, activates development and increases muscle strength.

On this moment experts offer the following treatment for Duchenne dystrophy:

• taking corticosteroid drugs to increase muscle strength and alleviate the patient's condition;
• the use of β-2-agonists for temporary muscle strength;
• physiotherapeutic procedures, myostimulation;
• orthopedic care (wheelchairs, walkers, leg braces, etc.).

Unfortunately, there is no “elixir of healing” for Duchenne dystrophy, so when searching effective treatment be extremely careful with drugs and procedures that can be presented to your attention as a "panacea".

Don't buy an unknown medicine unless there is good evidence that it works. Remember that you can spend a large financial amount, and, moreover, not only not help, but also harm your baby.

Only in 1/4 of patients there is a so-called preclinical stage of the disease, manifested only by biochemical and histological signs. These children fall ill at a later age (at 5-7 years old), in early childhood they are quite mobile. Much more often (in 75% of patients), manifestations of muscle weakness can be seen by the end of the 1st - the beginning of the 2nd year of life due to insufficient motor activity of the child, difficulty getting up from the floor, from squatting, late onset of walking. At this stage of the disease, there is relative compensation - there is no visible progression of the disease, on the contrary, due to natural development, the child becomes more mobile over time. The symptoms of the disease are still not specific enough, but there are signs of weakness in the muscles of the pelvic girdle.

Children with Duchenne disease begin to walk later than their peers, are clumsy when walking, and have difficulty climbing stairs. Often, observant parents already in this period go to the doctor, but their complaints do not receive due attention. The delay in walking is explained by "rickets", "flat feet", excessive fatness of the child or general weakening after the illness. The gradual accumulation of dystrophic changes in the muscles by the 3rd-5th year leads to the identification of typical motor disorders, and the disease begins to progress, which goes through a number of stages.

In the initial stage, all the symptoms are expressed implicitly, but clearly enough. Children still retain some liveliness of movement, but they cannot withstand the load. When walking for a long distance, you can notice a violation of posture as a result of lumbar hyperlordosis, a slightly waddling gait or a slight protrusion of the abdomen forward, thick calves. The child has difficulty climbing stairs, getting up from the floor, from squatting. Frequent falls of the child when walking encourage parents to consult a doctor.

The stage of pronounced manifestations of the disease, or the stage of generalization of atrophy, occurs quite quickly, in some cases after a few

months after the apparent onset of progression of muscle weakness. The lumbar lordosis gradually increases, the gait becomes "duck", the feet are deformed. In this stage, there is a characteristic phased rising from the floor, due to muscle weakness. In the future, the patient cannot rise on his own. When walking, the stomach protrudes sharply forward, the upper body deviates back. At times, the strength leaves the patient, and he, as if knocked down, can collapse to the floor and cannot get up for a long time. This condition portends an imminent loss of walking.

The severe paralytic stage of the disease is characterized by the impossibility of independent movement and usually occurs at the age of 10-11 years, although the duration of the disease before the loss of walking can vary significantly (from 2 to 10 years, and in exceptional cases up to 12-13 years). This is explained not only by the severity of the disease, but to a greater extent by the extreme sensitivity of the myodystrophic process to external influences. Sometimes it is enough for the patient to spend a few days in bed with the flu, so that he no longer gets on his feet. Such premature loss of walking is observed after the application of a cast, with a rapid increase in body weight by 3-4 kg or more, after changes in physical activity (long walking). Thus, for dystrophic muscles, inactivity is just as detrimental as overload.

It is noticed that with the loss of the ability to move independently, muscle atrophy and weakness increase very quickly. The patient soon loses the ability to sit up in bed with the help of his hands and roll over to the other side. Contractures develop rapidly.

After a few years of sitting in a chair, gross deformations of the skeleton are noticeable. By the age of 14-16, the immobility of patients reaches an extreme degree. Usually they die before the age of 20, rarely later * - in a state of deep general dystrophy, from diseases of the lungs, liver, heart, etc.

An increase in the volume of the calf muscles is a constant and characteristic symptom of Duchenne disease, called pseudohypertrophic. Biopsy shows calf enlargement is rarely associated with true hypertrophy

Chapter XI. Psychological features children with myopathy

§ 2. Clinical features of Duchenne myopathy

Muscle fibers, and in most cases occurs due to an increase in connective and adipose tissue. Hence the name pseudohypertrophy.

With Duchenne myopathy, pseudohypertrophies are usually detected after the child has already begun to walk independently. Up to 2-2.5 years, pseudohypertrophy does not look demonstratively due to the natural features of the structure of the child's body, but with comparative palpation, an increased density of the calf muscles can be detected compared to the femoral muscles. In the severe stage of pseudohypertrophy, it is often difficult to detect. Previously hypertrophied muscles gradually decrease in volume and look little different from atrophied ones.

The decrease in tendon reflexes goes in parallel with the degree of dystrophic process in the muscles, knee jerks usually drop out first. In most cases, the disappearance of knee reflexes is ahead of the development of visually visible atrophy of the quadriceps femoris muscles. Then the tendon reflexes of the hands decrease and fall out.

Muscle weakness and atrophy in the myodystrophic process develop in parallel. However, atrophy in the muscles of the pelvic girdle and thighs in the initial and mild stages of the disease are imperceptible, while weakness is clearly detected. Atrophies become noticeable earlier in the muscles of the shoulder girdle.

Often on early stages diseases, there are complaints of pain in the legs, mainly in the feet, popliteal fossae and inguinal folds. Pain occurs when walking and disappears in the belt. Children often ask to be held. Sometimes there are rare pains in the calf muscles. In all likelihood, pain is caused by compensatory overload of relatively preserved muscles and ligaments, as well as by microcirculatory disorders.

The proliferation of connective tissue in the muscles leads to their shortening. Tendons and ligaments are also subjected to this process, which leads to limited mobility in the joints, contractures. Thus, contractures in muscular dystrophy are the result of

muscle changes. Earlier than others, shortening of the calf muscles and Achilles tendons usually occurs with limitation of dorsiflexion of the foot. The patient begins to walk on tiptoes. The shape of the feet gradually changes. Feet with a high arch are observed in about 1/4 of patients, flat feet are somewhat less common. In the paralytic stage of the disease, a high arch, combined with a fixed position, forms the so-called horse foot.

Quite early in patients, deformation of the chest can be noticed. Most often, the chest is flattened in the anterior-posterior direction. If at the same time there is a recession of the sternum, the chest takes on a scaphoid shape. Barrel-shaped chest is somewhat less common than flattened.

Bone changes, narrowing of the diaphysis of large tubular bones. In all cases, osteoporosis is found. These changes are quite pronounced already at the stage of the disease, when the patient still has good mobility, so they can hardly be attributed to secondary atrophic processes in the bones from inactivity. In patients with Duchenne myopathy, ossification delay is determined radiographically.

With Duchenne myopathy, endocrine and metabolic disorders are not uncommon - excessive weight loss, reaching in some cases the degree of cachexia, or, conversely, unusual fullness. In Duchenne myopathy, obesity is usually accompanied by features of congenital hypogenitalism (cryptorchism, small penis and scrotum).

Almost uniform deposition of fat is somewhat more pronounced on the abdomen, in the pelvis, chest, arms, face. The patient retains the childish form of the body.

Mental insufficiency of patients with a pseudo-hypertrophic form was noted by Duchenne, but so far there is no consensus on this issue. Mental retardation observed in about a third of patients. Patients with Duchenne myopathy are characterized by lethargy, slow thinking. This can be supplemented by poor memory and impaired attention, inability to concentrate. The above features make

Chapter XI. Psychological characteristics of children with myopathy ______

sick children are extremely inert both at school and among peers. Their speech is poor. Due to the slowdown in mental activity, they do not use the available vocabulary in speech, they prefer to speak in simple phrases, sometimes they sit silently for hours. In many cases, it is not possible to identify experiences associated with their own plight, immobilization.

Simultaneously with muscle disorders suffer internal organs. Functional weakness of the myocardial muscles reduces its ability to decompensate and in adulthood can lead to acute heart failure with a poor prognosis. The weakening of the muscles involved in the act of breathing often causes congestion in the broncho-pulmonary apparatus, which leads to acute respiratory diseases. The latter can be exacerbated by the development of pneumonia. A decrease in the peristaltic capacity of the gastrointestinal tract disrupts digestion.

At all stages of the development of the pathological process, it is very important fracture prevention at home. The fall of sick boys during unsteady walking leads to fractures of the limbs. This fact is explained by pathological changes in the bone tissue, which becomes fragile during the course of the disease. The healing of fractures occurs in the usual time, but the plastering of the limbs leads to immobility, after which such a child sometimes loses the ability to move without any help.

Although the gene for the disease is known, there is still no effective treatment for the disease. However, intensive development of genetic treatments is currently underway.