Duchenne-Becker muscular dystrophy. What is Duchenne myopathy? Manifestations of Duchenne dystrophy at 4 years old

Pseudohypertrophic progressive muscular dystrophy was first described by a French neurologist in the mid-nineteenth century - Guillaume Duchenne, from whom it got its name - Duchenne dystrophy. This is one of the most common hereditary muscular dystrophic diseases, occurring with a frequency of 3-4 people per hundred thousand of the population.

Due to its vivid clinical picture and fairly wide prevalence, many people encountering the disease for the first time (and, unfortunately, often some doctors) believe that there is only this type of muscular dystrophy, but there are many of them and there are some subtleties in symptoms and diagnosis diseases. This will be discussed in this article.

Information for doctors. All variants of hereditary muscular dystrophies according to ICD10 are encrypted in the heading G71.0. The type of disease is indicated by the author (a differential series can also be indicated, for example, resembling Duchenne or Becker dystrophy). The stage, rate of progression, and degree of weakness of certain muscle groups in points are also indicated.

Causes

The disease is hereditary, linked to the X chromosome, so boys are almost always affected. Girls are carriers of a pathological gene (boys rarely survive to adulthood, and, moreover, are usually sterile). A change in the structure of the gene responsible for the synthesis of the dystrophin protein occurs on the chromosome.

Although the content of dystrophin in skeletal muscles is extremely small (thousandths of a percent), without it necrosis of muscle tissue quickly develops and progressive muscle dystrophy develops. If the gene is damaged in a site that completely destroys the synthesis of the dystrophin protein, Duchenne dystrophy develops. When insignificant parts of the protein are involved in the process, the disease takes the form of Becker's dystrophy.

Symptoms

The onset of symptoms begins in early childhood, usually between 1 and 3 years. Initially, there is a delay in motor development, the child begins to walk late, often stumbles when walking, and gets tired quickly. Later, constant pathological muscle fatigue develops. The child practically cannot climb stairs. The gait begins to resemble a “duck” gait.

A characteristic symptom is the “ladder” symptom: an attempt to get up from a sitting position occurs using the hands, gradually, slowly, in several stages.

Gradually, muscle atrophy begins to be noted, first in the proximal parts of the lower, then upper extremities. Later, the muscles of the pelvic girdle, hips, back, and shoulder girdle atrophy. A “wasp” waist, curvature of the spine, and protruding shoulder blades (pterygoid blades) almost always develop.

Almost always there is a characteristic symptom of progressive Duchenne muscular dystrophy - pseudohypertrophy of the leg muscles. The muscles, although increased in volume, do not have sufficient strength and are very painful to the touch.

Three stages of the disease can be distinguished:
- Stage I – weakness manifests itself only with significant physical activity (usually the first year of the disease).
- Stage II – difficulty climbing stairs, weakness when walking quickly develops.
- Stage III – represents paralysis, muscle contractures with the inability to move independently.

By type of flow it is divided into:
Rapid progression. The ability to move is lost quickly, within the first 4-5 years from the onset of the disease.
Average rate of progression: the patient cannot move after 10 years.
Slow progression: there are no significant motor disorders 10 years after the onset of the disease. Typically, this option is characteristic of other types of muscular dystrophies than Duchenne dystrophy.

Diagnostics

The clinical picture is very bright. Often the disease is diagnosed after clarifying a genetic history (presence of cases in the family) and a neurological examination. In the neurological status, the disappearance of knee reflexes is noted, a little later reflexes from the biceps and triceps disappear. Achilles reflexes are preserved for a long time.

Externally, deformation of the joints of the foot may be revealed, there are signs of cardiomyopathy: irregular pulse, dullness of heart sounds, dilation of the heart cavities according to EchoCG, changes in the electrocardiogram.

An important factor is the increase in the biochemical parameters of creatine phosphokinase (an enzyme indicator of muscle breakdown). The activity of this enzyme increases tens of times. There is a direct correlation between the degree of increase in enzyme activity and the severity of manifestations of Duchenne dystrophy. [!] In difficult diagnostic situations, a cytological examination is performed.

Treatment and life prognosis

Treatment is symptomatic. Hormonal drugs are used to stop the destruction of muscle fiber, phospholipids to protect muscle cells from destruction, and elements of therapeutic exercises. Various orthopedic devices are being introduced into practice to facilitate movement. Massage is strictly contraindicated in most cases, as it can lead to accelerated muscle breakdown. Treatment of hereditary diseases is a matter of the future.

The life prognosis for patients is unfavorable. The course of the disease is progressive. Death is inevitable. As a rule, by the age of seven, severe symptoms develop, leading to complete immobility by the age of 13-14. Patients rarely live to 18-20 years of age.

Duchenne-Becker muscular dystrophy is a common form among neuromuscular diseases that are inherited. Dystrophy is represented by degenerative changes in muscle tissue.

The disease occurs due to a mutation in the gene encoding the synthesis of the dystrophin protein. A large amount of protein is located in the sarcolemma area. When structural changes occur in the sarcolemma, the components of the cytoplasm degenerate, followed by the death of myofibrils. The disease has a recessive type of inheritance linked to the X chromosome.

Kinds

From a clinical point of view, Duchenne-Becker muscular dystrophy is divided into Duchenne muscular dystrophy and Becker muscular dystrophy.

Duchenne muscular dystrophy occurs in 3 cases per 10,000 newborns. The disease makes itself felt very early. The first thing that indicates it is that the child begins to walk later, at the age of 2 years does not know how to jump and run, and is noticeably behind his peers.

On examination, muscle weakness is clearly visible. By the age of three, the symptoms are more pronounced, this can be seen in the peculiar gait, the child seems to waddle from side to side. First, the calf muscles atrophy, over time the process spreads to the muscles of the thigh, pelvic, shoulder girdle, gluteal muscles, deltoid muscles, tongue muscles, and so on.

The atrophic process affects organs and some systems. When the heart is involved, acute heart failure develops. In most cases, this process ends fatally. Sick children have reduced intelligence. The last stage of the development of the disease is the appearance of changes in the muscles of the face and respiratory tract. Death occurs at 20-30 years of age.

Laboratory testing of blood serum shows an excessive increase in creatinine phosphokinase.

Becker muscular dystrophy is a form of neuromuscular disease that is benign in nature. This pathology occurs in one case per 20,000 newborns. The symptoms are similar to Duchenne muscular dystrophy, but appear in a less pronounced form.

The onset of the disease occurs at 10-15 years of age, and work capacity remains for 20 years. No cardiomyopathy or decreased intelligence was observed. Fertility is within the normal range.

Causes

The cause of the development of pathology is a violation in the structure of the X chromosome. In the presence of a mutation in the 21st locus of the short arm, muscular dystrophy develops.

In 70% of cases, the development of the disease is caused by the transmission of a defective gene from the mother. In this case, the mother acts as a carrier of the mutation. In the remaining cases, the mutations occur in the mother's egg.

Duchenne dystrophy involves a shift in the frame responsible for reading information from DNA. The integrity of the sarcolemma is disrupted in the absence of dystrophin, the voids are filled with fatty and connective tissues. This disease is manifested by a noticeable decrease in muscle contractility and tone with further atrophy.

Symptoms

Symptoms that appear in men:

general weakness body, excessive fatigue in the absence of heavy loads;
growing weakness in the legs;
problems with rise up the stairs;
a large number of manipulation when rising from a sitting position,
gait resembles a duck step;
robot malfunctions cardiovascular systems, development of arrhythmia;
muscular pain in the upper and lower extremities;
frequent stumbling and falls when walking;
dyspnea when performing physical activity;
swelling muscles with increasing load on the body.

At the beginning, the signs that are most often found in patients are given. Muscular dystrophy is most often detected either in childhood or upon reaching adulthood. After forty years, breathing problems develop, as well as disruptions in the functioning of the heart.

Diagnostics

Diagnosis of the disease is carried out depending on its nature. If the pathological gene is inherited from mother to child, then an analysis is performed to determine the amount of serum enzymes.

In infants, during the development of the disease, there is an excessive excess of enzyme levels (fifty times the norm), which return to normal limits as the child grows. As dystrophy progresses, a slight increase in indicators is observed.

Increasing the level of serum enzymes is an unstable process. It all depends on age characteristics, as well as on the degree of damage to the body. Elevated enzymes may develop even before symptoms of the disease appear. Exceeding the normal level of enzyme parameters is not affected by steroid therapy.

In the presence of a hereditary factor, diagnosis is carried out using screening. Exceeding the normal level of serum enzymes in sick children is 5-100 times higher than the upper limit of normal for an adult.

The highest rates are observed in children aged 2 years. As soon as the first symptoms of the disease appear, the rate begins to decline. If the child has a stable indicator, then the presence of the disease can be excluded. The recommended age for analysis is 2-3 months of age.

In the first days of life, the creatine kinase level is high and this is the norm. And it is important to monitor how he will behave further using tests. If a positive test for muscular dystrophy is obtained through a blood test, a plasma test should also be performed.

Creatine kinase more than three times higher than the upper limit is characteristic of Duchenne dystrophy and more than 2 times higher in Becker dystrophy.

Screening for muscular dystrophy in newborn girls has been cancelled. Previously, screening at the 18th week of pregnancy using fetal blood was widely used. Today it is not used, since the probability of a false indicator is very high.

Clinical diagnosis of dystrophy:

promotion creatine kinase observed in almost all patients with muscular dystrophy;
whey ALD is elevated in approximately 20% of patients;
serum indicator LDH increased in 10%.

With normal indications, the diagnosis of dystrophy is simply inappropriate. The highest rates are observed in sick young children, with a gradual decrease every year.

Treatment

To date, no remedy has been developed that can stop the process of muscle atrophy. It is impossible to get rid of it. Treatment of the disease is based on prolonging the motor functions of the body for as long as possible. Treatment can slow down the process, but not completely get rid of it.

If young children have signs indicating possible muscle wasting, they should consult a doctor immediately. The doctor will conduct an examination and also prescribe an examination.

If relatives do not have dystrophy, electromyography is prescribed, which will show how muscles and nerves work. If necessary, a muscle tissue biopsy is performed.

There is certain therapy to improve life. It consists of physical therapy to maintain joint mobility, thereby maintaining their flexibility. Massage improves blood circulation in the affected area, thereby delaying atrophy.

It is necessary to take vasodilator drugs, use auxiliary mobile devices, and special braces that allow you to keep the muscles in a stretched position. Canes, crutches, walkers, and wheelchairs will also help you move independently.

If breathing is difficult, a machine is used to help oxygen enter the lungs. There are orthopedic devices that fix the foot and ankle. They can reduce the risk of falls and make walking easier.

The operation is indicated in the following cases:

appearance contractures in tendons;
difficulty breathing;
irregularities in work hearts, installation of a pacemaker.

If one of your relatives suffered from dystrophy, you should consult a geneticist.

Consequences and complications

This disease has a number of complications and consequences:

spine over time deformed;
fades away motor ability that leads to a wheelchair;
there are frequent inflammatory processes in the respiratory organs;
disruptions occur cardiovascular systems;
are decreasing intellectual capabilities;

Death occurs both in childhood and later, depending on when the disease developed.

Heredity

Dystrophy is a serious disease that is inherited. Its occurrence does not depend on improper care, insufficient attention or lack of developmental activities.

Preventive measures

Before planning a pregnancy, a woman needs to be examined for the presence of pathological genes in the body. This is necessary in cases where one of the relatives had this disease. Dystrophy can be detected during pregnancy. To do this, amniotic fluid, cells or fetal blood are taken and analyzed.

If a condition occurs that requires immediate medical attention, physicians should be aware of the following factors:

Availability the child has Duchenne muscular dystrophy, as well as the medications the child is taking.
Trend development diseases.

If your condition worsens due to missing a dose of steroids, you should immediately inform your doctor. Patients suffering from this disease have an increased risk of bone fracture. Fractured limbs usually require surgery.

For successful therapy you will need a specialist in physical therapy. Leaving muscles inactive for a long time has bad consequences. Therefore, an important point is to put the child on his feet as quickly as possible and prevent the muscles from atrophying. If a special device is used to support breathing at night, you must take it with you to the medical facility.

September 7 is International Duchenne Syndrome Awareness Day. This is one of the most common hereditary genetic pathologies - it is diagnosed in one out of 3,000 newborn boys. So far, there is no way to completely cure the disease, but new developments offer a chance to change the situation. MedAboutMe will tell you what the therapy of the future might be.

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is an inherited genetic pathology, one of those that affects only boys. The disease is transmitted from mothers, but women themselves do not suffer from it, but are healthy carriers of the affected gene. The gene can be passed down through the female line for many generations and not manifest itself in any way, so the birth of a child with Duchenne dystrophy often comes as a surprise to the family.

The pathology lies in the gene encoding the protein dystrophin - during the disease it is produced in insufficient quantities or is completely absent. And since dystrophin is the basis of muscle fibers, in children with Duchenne dystrophy, the muscles gradually weaken, degenerate and are replaced by fatty or connective tissue. This leads to disability - the disease steadily progresses, gradually affecting more and more muscles.

Even with current treatment, boys with Duchenne muscular dystrophy live on average 20-25 years. In some cases, patients live up to 40, but so far this is still the exception rather than the rule.

The first symptoms of the disease appear before the age of 3; at this age the child develops:

fast fatiguability; developmental delay; difficulties in mastering the skill of walking; children often walk on their toes; Govers' symptom - when trying to get up, the child actively helps himself with his hands, since the leg muscles can no longer cope.

The disease progresses, and already in patients 15-18 years old the following symptoms are observed:

skeletal deformity; inability to move without a wheelchair, stand up, sit independently, and sometimes even move your arms; endocrine disorders are observed in 30-50% of patients; damage to the heart muscle, cardiomyopathy; damage to the respiratory muscles; Sometimes mental developmental disorders occur.

At the stage when the disease invades the heart and lungs, it is almost impossible to help the patient.

Standard Treatments

The disease was described in the 19th century by the neurologist Guillaume Duchenne, after whom it was named. And since then, doctors have been looking for effective methods of therapy. The first method, which is still used today, was the use of orthopedic devices.

Exercising your muscles helps slow down the process of muscle breakdown a little. For patients, both active (as long as they are able to exercise) and passive training are used. Doctors note that regular exercise can prolong the period when a patient moves without a wheelchair.

According to statistics, almost half of patients with myodystrophy undergo spinal surgery. With weak muscles, the skeleton becomes bent, which significantly worsens the course of the disease. Therefore, various orthopedic devices come to the aid of such patients - fixation of bones and joints allows them to slow down their deformation.

Modern developments in this area of therapy have long gone beyond simple supportive agents. Thus, the A-Gear robotic arm developed by the University of Twente in the Netherlands can replace an atrophied limb in a person. The artificial arm detects electrical signals from muscles or minimal muscle tension. People with Duchenne muscular dystrophy can control a mechanical limb, and the movements are very precise and natural. “We recruited many participants into the study who had lost the ability to move their arms for three to five years,” says scientist Joan Lobo-Prat. “A-Gear helped them regain some of the functionality of their limbs.”

Medicines for Duchenne muscular dystrophy

Drug treatment is an important part of general therapy. The most popular group of drugs for patients with Duchenne muscular dystrophy are steroids: prednisolone, deflazacort and others. They begin taking them at the age of 4-6 years, when signs of the disease appear, but there is no significant deterioration in the condition. Steroids help delay the development of severe symptoms, but they are not effective in the long term. Once the patient's atrophy begins to progress, these medications can no longer improve the condition of the muscles. Still, steroids remain an important part of the treatment of Duchenne dystrophy.

There are other developments aimed at improving muscle function. Thus, in 2016, the FDA (US Food and Drug Administration) approved the drug Exondys51 (etiplirsen), which can become a competitor to steroids. According to studies, the substance can strengthen muscle tissue, because it increases the level of dystrophin in skeletal muscles. However, not all doctors share the FDA's opinion, since the drug was approved through an accelerated procedure. In fact, there is currently no clear evidence that it can delay the development of paralysis or reduce the symptoms of an advanced disease. This means that Exondys51, like steroids, is effective only during a short period of illness. Even though the drug has already been approved, the FDA continues research. If the effectiveness of the drug is not confirmed, its production will be stopped.

The European Committee for Medicinal Products for Human Use (CHMP) registered another medicine in 2014 - Translarna (ataluren). Unlike other drugs that only strengthen muscles, ataluren is able to restore impaired protein synthesis. This means that, theoretically, it eliminates the very cause of the development of the disease. Since this is a new development, it is difficult to know how effective it will be in the long term. But the intermediate results are quite encouraging.

Genome editing and CRISPR/Cas technology Duchenne muscular dystrophy is caused by a pathology in the gene, so any drug or physical therapy treatment is only symptomatic. A person can only be cured with the help of gene therapy - editing the DNA code and changing the “sick” gene. Although such treatment is not yet available, new technologies offer a chance to solve the problem in the future.

Recently, CRISPR/Cas9 technology has gained particular popularity. It is based on the action of a special enzyme Cas9. It penetrates into the cell and there is capable of not only recognizing a specific section of the DNA chain, but also removing it. Since doctors know which gene is to blame for the development of the disease and where exactly it is located, with the help of technology they can simply cut out the DNA fragment with the pathology. And this will bring complete recovery.

However, recent research has revealed a number of difficulties with using this system. After an experiment on embryos, it turned out that the method actually made it possible to cure up to 30% of the cells. But at the same time, such introduction gave rise to a large number of other mutations.

The possibilities of CRISPR/Cas9 are being actively studied by many laboratories around the world. Positive results, in particular, were obtained by scientists from the Southwestern Medical Center of the University of Texas. Here, CRISPR/Cas9 was successfully used to treat mice with Duchenne muscular dystrophy. A more precise technology has also been developed that is suitable specifically for this disease - in it the Cas9 protein was replaced by the Cpf1 protein. “We took cells from patients with Duchenne dystrophy and were able to correct them in the laboratory,” says Dr. Eric Olson. “After using CRISPR/Cpf1, dystrophin production was restored in cells.”

Other research: artificial chromosome, viruses and mutations

A group of Japanese and British scientists proposed another alternative approach for the treatment of Duchenne muscular dystrophy - the introduction of artificial healthy chromosomes (the gene with the pathology is located on the X chromosome of the 23rd pair). Such a chromosome will be placed in a stem cell, and later introduced into the body and help restore muscles. So far, positive results have been obtained in experiments on mice. Similar studies were carried out in Russia, in.

Another possible direction in the treatment of Duchenne disease has emerged thanks to the dog. More than ten years ago, scientists from the University of Sao Paulo in Brazil bred puppies with Duchenne muscular dystrophy specifically for study. However, despite the diagnosis confirmed by tests, one of them, the dog Ringo, did not develop the disease; moreover, the animal lived for 11 years without any symptoms. Scientists attribute this to the presence of another pathology in the dog - a mutation in the Jagged1 gene. “We don’t know exactly what the concentration of the protein encoded by the Jagged1 gene should be in muscle to effectively protect against the development of the disease,” says geneticist Louis Kunkel. “But Ringo’s story suggests that the Jagged1 mutation compensates for the atrophy caused by a lack of dystrophin.”

One of the most promising prospects is a large-scale study involving real patients. The essence of the experiment is to try to introduce a corrected copy of the dystrophin gene into a cell. And it is planned to do this with the help of viruses - they will be the carriers of the desired DNA fragment. Tests will be carried out in the USA at the end of 2017-beginning of 2018. In particular, the pharmaceutical company Pfizer will participate in the research. So far, 12 children of different age groups have been selected to be injected with viral particles at Nationwide Children's Hospital in Ohio.

Muscular dystrophy, or Duchenne myopathy, is a severe hereditary pathology that is constantly progressing. It is almost impossible to slow down muscle breakdown.

This is due to congenital changes. People first started talking about Duchenne myopathy in the middle of the 19th century. This pathology was discovered by a French neurologist. At that moment, one type of course of the disease was known, after some time several more ways of developing the condition were identified.

This type of disease is very similar to Becker's muscular dystrophy, but at the same time differs from it in complexity and external features.

Duchenne muscular dystrophy affects 1 child out of 4000. This type of pathology is one of the most common muscular dystrophies and is a congenital disease.

One of the genes in the structure of the human genome was given the name of a neurologist, after whom the deviation was named. Duchenne muscular dystrophy can be influenced by various factors:

incest;
genetic predisposition, for example, if a relative has Duchenne myopathy;
improper synthesis of muscle fibers, accelerated spread and replacement by fatty tissue, connective fibers;
hereditary forms of Duchenne syndrome, most often transmitted from the mother;
genome mutation during formation during pregnancy;
abnormalities in chromosomal structures of unknown origin;
severe disturbances in the development of dystrophin;
pathological changes in biochemistry in the blood.

Duchenne myopathy also develops in connective tissue diseases that are not directly related to genetic abnormalities.

Characteristics of hereditary pathology

The genetic nature of the disease was immediately proven after the discovery of the syndrome in 1868. This pathology is almost identical to Becker’s myodystrophy, that is, it has the same genetic prerequisites for its formation.

However, Becker muscular dystrophy has other symptoms. The disease is characterized by the following features:

diagnosed in boys under 5 years of age;
progresses rapidly;
never detected in girls;
muscle atrophy has a stepwise development - first the pelvic girdle suffers;
then the leg muscles are involved;
after this, Duchenne myopathy affects the muscles of the back and shoulders;
progressive Duchenne muscular dystrophy ends with damage to the hands;
a specific sign of a disorder is spinal deformity, most often found in the form of kyphosis or lordosis;
Duchenne muscular dystrophy is almost always accompanied by damage to the sternum and feet, they become irregular in shape and greatly change the human body;
in pathology, in contrast to Becker muscular dystrophy, damage to the left cardiac ventricle, arrhythmia and cardiopathy appears;
approximately 30% of patients develop mental retardation.

Duchenne muscular dystrophy is never mild, always has an extremely unfavorable prognosis. It develops quickly, the patient loses the ability to walk by the age of 12. In Duchenne muscular dystrophy, death occurs due to infection of the bronchi or lungs, after cardiac arrest.

Symptoms of the disorder

The first signs of Duchenne myopathy occur already at the age of 1.5 years. In rare cases, they cannot be noticed until 5 years of age. Signs of Duchenne disease appear mild at first. Their combination depends on your overall health:

the child develops severe instability, there is clumsiness in movement, he often falls and is very slow;
Duchenne myopathy is accompanied by the fact that while walking the child wobbles and constantly stumbles, as a result of which the child is afraid to get up on his feet, and severe motor passivity occurs;
over time, with Duchenne muscular dystrophy, a “duck” gait with the chest protruded forward and shoulder blades retracted becomes visible;
if the child is sitting or lying down, then it becomes difficult to take a standing position with Duchenne muscular dystrophy;
when trying to take a standing position, the baby seems to stand on a ladder and rises up with his backside;
muscle hypertrophy occurs, they are filled with adipose tissue;
Duchenne muscular dystrophy also affects the functioning of the heart, resulting in pathologies and failure;
Duchenne muscular dystrophy is often accompanied by another symptom - abnormalities appear in skeletal biopsies;
the position of large joints gradually changes, deformation of the feet begins;
Duchenne myopathy in 100% of cases leads to complete disability of the patient; he requires a chair;
at the age of 15, with Duchenne muscular dystrophy, deep disability occurs, dangerous cardiac arrest and chronic or constantly recurrent disorders in the lungs.

Against the background of Duchenne muscular dystrophy, a young patient develops acute depression, which children find difficult to tolerate. Often the cause of death in Becker and Duchenne muscular dystrophy is suicide.

Diagnosis of the disease

Duchenne muscular dystrophy is extremely difficult to diagnose. To do this, a set of methods is used. The first thing you should do if you suspect Duchenne myopathy is an ECG. To confirm the diagnosis, it is necessary that the analysis shows abnormalities in the wall of the left ventricle.

The next stage is to determine the level of dystrophin, which does not change towards normal dystrophy. It is also necessary to donate blood for biochemical analysis. If you have Becker's muscular dystrophy or the disease named after the French neurologist, high levels of CPK are noted.

Additionally, you need to undergo EMG, gene diagnostics, and muscle biopsy. It is the latter analysis that allows us to identify the disease with fairly high accuracy. Electromyography is not inferior in effectiveness in terms of diagnosing Duchenne muscular dystrophy.

Treatment tactics

For Duchenne muscular dystrophy treatment to be effective, you need to strictly follow the plan after diagnosis. The disease can never be completely cured, but it can make the patient’s life much easier. Modern medicine can slow down Duchenne myopathy using the following methods:

Tactics for detecting the disease before 5 years of age. Radical treatment for Duchenne muscular dystrophy is not required. Genetic consultation and constant support of the parents of a sick child are needed.
Treatment of Duchenne myopathy up to 8 years of age. In this case, muscle tissue support is needed. Doctors prescribe glucocorticosteroids to slow the progression of the disease: Prednisolone or Deflazacort.
Therapy from 8 to 20 years. In this case, the muscles are significantly weakened, Duchenne muscular dystrophy leads the child to a wheelchair.
Therapy from 20 years. In this case, the drugs partially stop working, and respiratory diseases progress.

Duchenne myopathy requires constant use of certain vitamin groups (B, E), as well as calcium, anabolic hormones, potassium and some types of amino acids. For Duchenne muscular dystrophy, injections of ATP, Retabolil, and glutamic acid are required.

Important! You can maintain health with Duchenne muscular dystrophy using other methods - exercise therapy and electrophoresis.

Exercise therapy is carried out in small courses with the obligatory participation of a therapist. Doctors also recommend massage. For electrophoresis in Duchenne myopathy, it is necessary to use substances such as lipase, calcium chloride, and Proserin.

In severe cases, all treatment is carried out at home, if there are medical capabilities to organize complex therapy with special devices.

A prerequisite for the treatment of Duchenne myopathy is constant monitoring by a cardiologist. It is also necessary to create a competent menu. When sick, you need to eat a lot of steamed vegetables, fruits, vegetable fats and lean meat. The consumption of alcohol, caffeine and strong tea is prohibited.

Consequences and complications

In 100% of cases, Duchenne myopathy is accompanied by severe consequences for the body and greatly shortens life. The patient always dies from complications of the disease - cardiac arrest or pulmonary infection.

If Duchenne muscular dystrophy is detected at an early age, there is a chance that the person will live to be 30 years old. But only subject to adequate therapy and an integrated approach. Complications of Duchenne myopathy often include osteoporosis, lesions of the spine and joints, as well as pathologies of the digestive system.

Duchenne muscular dystrophy is a severe genetic disorder, the treatment of which is not able to protect a person from one outcome - death. In some cases, patients manage to live more than 20 years after diagnosis. In other cases, infants die within the first year of life.

This pathology means a violation of muscle nutrition. This pathology is a hereditary muscle weakness and is extremely rare.

This syndrome usually affects only boys. There is 1 disease per 3000 births of normal babies.

There are other types of muscular dystrophies that occur in girls, but the manifestations there are milder.

During the course of this disease, as it progresses, a disruption of the connections between muscles and nerves occurs.

Duchenne syndrome is inherited; the mother is a carrier of the gene for the described pathology, but is not sick herself.

Other types of dystrophy

In addition to the described syndrome, there are other types of these dystrophies, although they rarely occur.

Becker syndrome is extremely rare, and only males are affected. Pathology occurs at 10-11 years of age and becomes less noticeable at 35-40 years of age.

Hereditary muscular myopathy - affects both girls and boys, also has a genetic cause, and is observed even less frequently than the described syndrome.

Humoscapulofacial myopathy has an extremely long development and a favorable course. Appears before 10 years of age. Characterized by: being in infancy, they cannot suckle the breast well; at a later age it is not possible to make the lips into a tube; It is difficult to lift the arms; the face has a mask-like appearance.

Emery-Dreyfus dystrophy - manifests itself like other types of dystrophies, but unlike the previous ones, these have a bad effect on the heart.

First symptoms

The child walks later, but all his attempts are unsuccessful. The child walks, waddling from one side to the other, often falls on his butt, the desire to get up and get up from a body position sitting on the floor often turns out to be unsuccessful.

The leg muscles may look quite strong, although in reality they are not. All other muscles responsible for walking are poorly developed.

Diagnostics

Seeing characteristic symptoms, the doctor may suspect this pathology in the baby. In this case, the therapist should refer the child to an orthopedist.

Blood test: normal muscle tissue contains creatine phosphokinase. With this pathology, the amount of this enzyme is too high.

Muscle test: Electronic muscle testing measures the speed at which nerve reactions are transmitted to the muscles.

Muscle biopsy: A piece of muscle tissue is examined under a microscope. This study reveals growths in the form of atherosclerotic plaques.

Why is this pathology considered genetic?

This syndrome is a genetic disorder that occurs due to a modified allele on the sex X chromosome.

Every cell of the human body, with the exception of gametes, contains 46 chromosomes. One autosome contains many alleles (about 1000). Alleles and autosomes contain deoxyribonucleic acid, which is responsible for transmitting data that passes from one generation to another.

The structure of the gene is protein. Globulins are a building material for the human body.

This disease appears due to the presence of a specific gene on the X chromosome, which is found in both male and female bodies. The allele responds to the production of a protein that forms normal muscle tissue.

Girls sometimes inherit an altered allele, but usually they do not develop Duchenne disease, since their body has two X chromosomes, one of them, healthy, replaces the disorder in the second.

In the course of certain experiments, the following data were obtained: Duchenne disease in boys can be congenital or acquired due to mutations that occurred in the genotype after birth.

Pathology progression

As the pathology progresses, the symptoms become more pronounced; this happens because the muscles are practically no longer able to facilitate adequate movement. Over time, the hand muscles weaken, and it becomes very difficult for the baby to grasp and hold objects. The muscles of the arms and legs become dystrophic, the joints become stiff. Deformation of the elbow, hip and knee joints often occurs. The muscles that hold the spinal column stop growing, causing the spine to become curved. It is difficult for the baby to walk. Some children do not study well. Learning requires painstaking work, during which the child simply does not keep up with the curriculum.

How to help your baby?

Unfortunately, there is no cure for this syndrome, so it is worth telling your child how to adapt to life with this disease.

The child is indicated for psychotherapy in order to convince him of the importance of physical activity.

It is worth practicing special gymnastics in order to maintain movement in the joints.

To prevent contractures from forming, it is worth using special splints and corsets.

Therapeutic walking is indicated.

Children with this syndrome experience some difficulties in learning, so they need an individual approach and attention. It would be good if a sick child started studying in a special school for children with these difficulties. There are boarding schools, the program of which is adapted specifically for such a contingent.

If a sick child has brothers or sisters, they need to be given equal attention so that the children do not think that they are abandoned.