There are a lot of differentdiseases that occur in children, regardless of the circumstances or the environment. This is the category of hereditary diseases. Now we are talking about a problem such as Duchenne's muscular dystrophy: what kind of ail is this, what are her symptoms and whether it is possible to cope with it.
Initially, you need to find out what ishereditary diseases. 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 preciselyhereditary 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.
As already noted, Duchenne's muscular dystrophyIs a genetic disease. So, there is a mutation in the gene that is responsible for the production of a special protein dystrophin. This is what is necessary for the normal functioning 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 inchromosome X. But women can not become ill 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 just will be the carrier of the gene, she will not have clinical manifestations of the disease.
In general, the disease actively manifests itselfabout 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 honey are conventionally divided into several large groups:
It is also necessary to talk about how Duchenne syndrome manifests itself. Symptoms are as follows:
It is the damage to the muscle tissue - the mosta common symptom when it comes to 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 are manifested even while walking the baby. Such babies can move on toes, without getting to full stop. They also often fall down.
When the boy can already talk, he constantlycomplains 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 has Duchenne's muscular dystrophy, 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, the child, to rise from the floor, actively uses his hands, as if climbing on himself.
It should also be noted that with such a problem asDuchenne syndrome, the child gradually atrophy muscles. But it often happens that the crumb looks muscularly very developed. The boy even on the first vskidku appears to be 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.
If a child has progressive muscular dystrophyDuchenne, then gradually the boy will change the shape of the skeleton. First, the pathology will affect the lumbar region, then there will be a 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.
An obligatory symptom for this disease is alsois 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 a lethal outcome.
It should be noted that muscular dystrophyDuchenne-Becker does not always manifest such a symptom as mental retardation. It may be due to the deficiency of such a substance as apodistrophin, 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 where children gather. As a result, social disadaptation arises.
Various endocrine disorders occur in no more than 30-50% of all patients. Most often it is overweight, obesity. Moreover, children also have a lower growth rate than peers.
What is the clinical and epidemiological characteristicDuchenne 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.
What procedures can help identify with the diagnosis of "Duchenne muscular dystrophy"?
It is impossible to completely cure this disease.You can only alleviate the symptoms, which will make the life of the patient a little easier and more convenient. So, after the patient is diagnosed with this condition, 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:
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.
There are also other muscular congenital diseases of children. Such diseases can be attributed, in addition to Duchenne's dystrophy:
It should be noted that none of thesethere is no muscular weakness in newborns. All symptoms occur mainly in adolescence. Life expectancy of patients usually does not exceed 30 years.
