Duchenne myopathy. Duchenne myopathy: Diagnosis. Treatment. Complications Duchenne muscular dystrophy

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 the age of 10-15 years, and working 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 problems with 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 conducting 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.

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 breastfeed 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.

“I won’t be able to survive this...” is the first thought that comes to the mind of a mother who learns the details about her child’s illness. Before diagnosis, most do not even know what kind of disease it is - Duchenne myopathy (also known as dystrophy and Duchenne muscular dystrophy). And it is not surprising, because the frequency of occurrence is quite low: only 1 case in 3,500 births of boys. This genetic disease is extremely rare in girls. But what do you care about a rare disease when an entry appears on your baby’s record that you would like to erase without a trace?

Don't waste time

The cute clumsiness that accompanies a child up to three years old turns into muscle weakness by five years. At the age of 10-12, the child stops walking, and by the age of 15, he partially or completely loses the ability to move independently. Only 20 years of life is so short that it is impossible to believe.

Doctors get off with general phrases, and parents have to look for information on their own. Doctors who are faced with such a diagnosis for the first time often have no idea what to do.

Duchenne myopathy is a disease that is characterized by a mutation in the gene responsible for the synthesis of the protein dystrophin in muscle fibers, which leads to disruption of their structure. Mutation carriers are women who do not themselves suffer from Duchenne myopathy, but with a 50% probability of passing it on to their descendants. In this case, boys develop muscular dystrophy, and girls, in turn, become carriers of the mutation. In some cases, the disease is not the result of inheritance, but occurs spontaneously.

Russia has a gigantic failure in this area of scientific research. There are very few specialists in neuromuscular pathologies, and it is difficult to get to them. Just imagine how much one year means for a progressive disease! This is exactly how long the average queue at a federal medical institution lasts.

Usually, due to difficulties in walking, parents first turn to orthopedists, who may simply not know about this disease. As the practice of Russian clinics shows, even neurologists make mistakes in diagnosis in many cases. Moreover, in 30% of boys, myopathy is accompanied by mental retardation.

Judging by the frequency of the disease, there should be about 4,000 children in Russia with Duchenne dystrophy. Registered at the Moscow Children's Neuromuscular Center - 10 times less. Where are all the other patients?

This is where the biggest problem of domestic medicine lies. The neurologist, who has finally made the correct diagnosis, wittingly or unwittingly convinces the parents that Duchenne myopathy cannot be treated, progresses quickly and always leads to death. As a result, parents simply give up, don’t go anywhere and don’t turn to anyone, trying simply to survive in the given conditions.

Is it true that the situation is so hopeless? Is there really no hope that the child will really get help? Is an incurable disease a reason to abandon the search for the most effective treatment?

Studying and working with Duchenne dystrophy is real

Let's be honest. For now, you shouldn’t expect a miracle of instant healing, no matter who promises you anything. However, it is possible now to extend a child’s life and significantly improve its quality! There is a good chance that in the years that you give him, scientists will finally find a way to stop or reverse the development of the disease.

The Comprehensive Neuromuscular Center at Cincinnati Children's Hospital proves this every day:

Clinical trials of new drugs and methods are regularly carried out here, which has achieved excellent results in the treatment of Duchenne muscular myopathy.

Currently, the Center is monitoring about 600 children with this disease. People come here from all over the world to receive modern treatment and emotional support. The medical team provides long-term care to its patients and their families.

Observations of patients aged 13-16 years, who carried out all the orders of the Center’s doctors, confirm: by this age, 40% of them can get up from the floor independently, 50% can walk 10 meters without assistance. Whereas without treatment, walking becomes absolutely impossible by the age of 12-13.

All specialists are gathered in one institution. The joint work of neurologists, cardiologists, pulmonologists, endocrinologists, geneticists, physiotherapists, and nutritionists leads to the fact that the average life expectancy of people with Duchenne myopathy has increased by 10 years.

Thanks to comprehensive treatment and constant monitoring, instead of 20 years, patients can live 30 years or more. Accordingly, basic motor functions are also preserved much longer.

This means that children can successfully receive a vocational education and even work. There are already such examples among the Center’s patients!

Effective treatments for Duchenne myopathy from Comprehensive Neuromuscular Center

The Center for Comprehensive Treatment of Neuromuscular Disorders operates according to a well-thought-out scheme that makes treatment as comfortable as possible for the patient and his legal representatives (parents or guardians).

Benefits of Duchenne muscular dystrophy treatment at the Comprehensive Neuromuscular Center:

Specialization in neuromuscular disorders. Patients with Duchenne and Becker myopathies, spinal muscular atrophy (SMA), congenital myasthenic syndrome, hereditary Friedreich's ataxia, and other pathologies of the nervous and muscular system come to the Center.
Patients of the Center are the first to receive maximum access to new scientific discoveries and achievements, to the latest techniques and pharmaceuticals. They also participate in clinical trials.
Based on the results of the examination, the attending physician draws up an individual plan depending on the current condition of the child and concomitant diseases. Even the lifestyle of the family as a whole is taken into account - all in order to provide the best possible care.
Side effect management. The child’s condition is constantly monitored in order to promptly adjust the amount and type of medications taken.
Comprehensive outpatient and inpatient care that translates into ongoing care. 100% patient management throughout life, including consultation on quality of life issues, education and adaptation to society.

Treatment of Duchenne muscular dystrophy will be much more effective if a favorable psychological environment is maintained in the family. Therefore, in conclusion, we have prepared some tips that will help you remain calm and confident, and your child become happier.

Do not hide the diagnosis from your child; tell him truthfully and clearly about the disease.
Help your child understand that he can and should be an active participant in the treatment process. By eating right and doing the recommended physical exercises, the patient himself has a positive effect on the course of the disease.
Remember that your child is a person with many aspects. And Duchenne myopathy is just one of them, and not the most important one.
Pay attention to what else the child can do. Don't focus on lost skills.
Solve only relevant problems. Don't think about how your child will feel in a month or a year.
Raise your child the same way you would a healthy one. Try to avoid excessive guardianship, give him the right to be independent in the areas available to him.
Ask your loved ones, friends, doctors for help when you need it.
If possible, go to the movies together, go on vacation, have fun - give yourself and your child joyful moments filled with positive emotions.
Need detailed advice on neuromuscular disorders? Submit a request directly from the site and find out how to connect with the experts at the Comprehensive Neuromuscular Disorders Center at Cincinnati Children's Hospital.

Gene diseases is a large group of diseases that occur as a result of DNA damage at the gene level.

Duchenne muscular dystrophy (DMD) is a serious X-linked recessive disease characterized by rapid progression of muscular dystrophy, which ultimately leads to complete loss of mobility and death of the patient.

DMD usually affects only men, although women can sometimes be carriers of the disease. If the father has DMD, and the mother is a carrier, or is also sick, then the woman may develop Duchenne muscular dystrophy. The disorder is caused by a mutation in the dystrophin gene, which in humans is located on the X chromosome (Xp21).

Symptoms of the disease usually appear in male children under 5 years of age and may appear in early childhood. The first signs of the disease are progressive proximal weakness of the leg and pelvic muscles associated with loss of muscle mass. Gradually this weakness spreads to the arms, neck and other parts of the body. As the disease progresses, muscle tissue is gradually replaced by adipose and fibrous tissue. To assist with walking, special braces may be necessary at age 10, but most patients over age 12 are unable to walk without a wheelchair. Later, the following signs of the disorder occur: abnormalities in bone development, which lead to skeletal deformation, including curvature of the spine.

Diagnostics: DNA test, muscle biopsy, prenatal testing.

Treatment

There are no known effective drugs to treat Duchenne muscular dystrophy. Although, according to recent stem cell research, there are promising vectors that can replace damaged muscle tissue. However, at this stage of treatment, as a rule, it is symptomatic and aimed at improving the quality of life of the sick person.

43. Basic principles of genetic counseling.

The first condition for genetic counseling is confidence that the diagnosis is correct.

Once a diagnosis has been made, genetic counseling should include:

1 - decide whether both parents should be present during the conversation (teenagers should be given the opportunity for a separate conversation);

2 - discuss the medical consequences of the defect; if relevant, it is necessary to explain the possible variability in the manifestations and course of the disease and the outcomes that can be expected in the future;

3 - analyze the genetic history of each parent and identify unrecognized genetic risk;

4 - analyze the interpretations of family members or those provided by another person;

5 - describe to the counselees the genetic basis of the disease, using visual aids (pictures demonstrating the phenotype or other signs of the disease, images of chromosomes, diagrams of types of inheritance);

6 - explain the risk of developing a genetic disease in terms that the family can understand;

7 - outline the range of possible decision choices: have children, taking into account the possible risk, do not have children, adopt the child, if possible, carry out artificial insemination (this decision is especially appropriate in all cases of autosomal recessive diseases and serious autosomal dominant diseases on the father's side ), note whether it is possible to carry out prenatal diagnosis;

8 - propose to the counselees the outcome of the discussion, and, if possible, meet with them again in order to help decide how best to proceed in this case;

9 - maintain contact with previously counseled families to provide them with information that may be useful, such as new methods for detecting parental carrier status or prenatal diagnosis.