Duchenne muscular dystrophy. Hereditary diseases

There is a huge number of different diseases that occur in children, regardless of the circumstances or the environment. This is the category of hereditary diseases. Now we are talking about such an issue as Duchenne's muscular dystrophy : what kind of ail is this, what are her symptoms and whether she can cope with it.

Terminology

Initially, you need to find out what hereditary diseases are. So, 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.

Duchenne's muscular dystrophy is a hereditary disease. It appears very quickly, the main symptom in this case is a rapidly progressing weakness in the muscles. It should be noted: like all other muscle diseases, Duchenne's disease also leads in the end result to muscle atrophy, motor disability and, of course, disability. In adolescence, children with this diagnosis are no longer able to move independently and can not do without outside help.

What happens at the gene level

As already noted, Duchenne's muscular dystrophy is a genetic disease. So, there is a mutation in the gene, which is responsible for the production of a special protein dystrophin. This is what is necessary for the normal operation of muscle fibers. It is important to note that this genetic mutation can both be inherited and arise spontaneously.

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

Symptoms: groups

In general, the disease actively manifests itself at about 5-6 years of age. However, the first symptoms can occur in a child who has not yet reached the age of three. At the same time, it should be noted that all pathological disturbances of the mead are conventionally divided into several large groups:

1. Defeat the muscles.
2. Defeat of 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

It is also necessary to talk about how Duchenne's syndrome manifests itself. Symptoms are as follows:

• Weakness. Which gradually grows, develops.
• Progressive muscle weakness begins with the upper limbs, then the legs are touched and only then all other parts of the body and organs are affected.
• The child loses the opportunity to move himself. Approximately 12 years of age, these babies are completely dependent on the wheelchair.
• Disorders of the respiratory system are also observed.
• Well, of course, there are violations in the work of the cardiac system. Later, irreversible changes occur in the myocardium.

About the defeat of the muscles of the skeleton

It is the defeat of the muscle tissue - the most common symptom, if it is a problem such as Duchenne's syndrome. It should be noted that babies are born without special deviations in development. At a young age, children are less active and mobile than peers. But most often it is associated with the temperament and character of the child. Therefore deviations are very rarely seen. More significant signs appear even while the baby is walking. Such babies can move on toes, without getting to full feet. They also often fall down.

When the boy can already talk, he constantly complains of weakness, pain in the limbs, rapid fatigue. Such crumbs do not like to run, jump. Any physical load they do not like, and they try to avoid it. "To say" that the baby's muscular dystrophy Duchenne, maybe even a gait. She looks like a duck. Boys seem to fall from one foot to the other.

A special indicator is also the symptom of Hovers. That is, a child to climb from the floor, actively using his hands, as if climbing on his own.

It should also be noted that with a problem such as Duchenne's syndrome, the child gradually atrophies muscles. But often it happens that the crumb looks muscularly very developed. The boy even on the first vskidku appears as if pumped up. But this is just a deception. The thing is that in the process of the disease the muscle fibers gradually disintegrate, and their place is occupied by fatty tissue. Hence this impressive appearance.

A little about deformation of the skeleton

If the child has progressive muscular dystrophy Duchenne, then gradually the boy will change the shape of the skeleton. First, the pathology will affect the lumbar region, then there will be scoliosis, that is, there will be a curvature of the thoracic spine. Later, the stoop will appear and, of course, the normal shape of the foot will change. All this symptomatology will be more accompanied by impaired motor activity of the baby.

About the heart muscle

An obligatory symptom in this disease is also the defeat of the heart muscle. There is a violation of the rhythm of the heart, there are regular differences in blood pressure. In this case, the heart increases in size. But its functionality is vice versa, they decrease. And as a result, gradually formed heart failure. 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 does not always manifest itself as a symptom of mental retardation. It may be due to the deficiency of such a substance as apodistrophin, which is necessary for the work of the brain. Violations of the intellect can be very different - from weak mental retardation to idiocy. The aggravation of these cognitive disorders is also facilitated by the inability to visit kindergartens, schools, circles and other places of children's congregation. As a result, social disadaptation arises.

Disorders of the endocrine system

Various endocrine disorders occur in no more than 30-50% of all patients. Most often it's just overweight, obesity. In addition, children also have a lower growth rate than peers.

Outcome of the disease

What is the clinical and epidemiological characteristic of Duchenne muscular dystrophy? So, the incidence of the disease is 3.3 patients per 100 thousand healthy people. It should be noted that muscular atrophy gradually progresses, and by the age of 15 the boy can no longer do without the help of others, being completely immobilized. To all, there is also the frequent attachment of various bacterial infections (most often it is the genitourinary and respiratory systems), with improper care of the child there are pressure sores. If problems with the respiratory system are associated with heart failure, it is fatal. If to speak in general, then such patients almost never live more than 30 years.

Diagnosis of the disease

What procedures can help identify with the diagnosis of "Duchenne muscular dystrophy"?

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

Treatment

It is impossible to completely cure 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 this diagnosis, he is most often prescribed glucocorticosteroid therapy, which is designed to slow the progression of the disease. Other procedures that can also be used for this problem:

• Additional ventilation of the lungs.
• Medication therapy, which is aimed at normalizing the work of the heart muscle.
• Use of various devices that increase the patient's mobility.

It is also important to note that today we are developing the latest techniques, which are based on gene therapy, as well as stem cell transplantation.

Other muscular diseases

There are also other muscular congenital diseases of children. Such diseases can be attributed, in addition to Duchenne's dystrophy:

• Becker's dystrophy. This disease is very similar to Duchenne's syndrome.
• Muscular dystrophy of Dreyfus. It is a slowly progressing disease, in which the intellect is preserved.
• Progressive muscular dystrophy of Erba-Roth. It appears in adolescence, progression is rapid, disability occurs early.
• Pleural-facial form of the Landusi-Dezherin, when muscle weakness is localized in the face, shoulders.

It should be noted that none of these diseases show muscle weakness in newborns. All symptoms occur mainly in adolescence. The patients' life span does not exceed 30 years.