There are a huge number of different diseases that occur in children, regardless of circumstances or environmental influences. 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 de alt with.
Terminology
Initially, you need to know 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 muscular dystrophy is precisely 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 that, like all other muscle diseases, Duchenne disease also leads to muscle atrophy, dysmotility and, of course, disability. In adolescence, children with this diagnosis are no longer able to move independently and cannot do without outside help.
What's going onat the gene level
As already noted, Duchenne muscular dystrophy is a genetic disease. 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. It is important to note that this genetic mutation 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 she is a girl, she will simply be a carrier of the gene, she will not have clinical manifestations of the disease.
Symptomatics: 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. At the same time, it should be noted that all pathological disorders of the medicine are conditionally divided into several large groups:
- Muscular damage.
- Heart muscle damage.
- Deformation of the child's skeleton.
- Various endocrine disorders.
- Disorders of normal mental activity.
The most common manifestations of the disease
Be sure to also talk about how Duchenne syndrome manifests itself. Symptoms are as follows:
- Weakness. Which is gradually growing, developing.
- Progressivemuscle weakness is 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 by himself. By about 12 years of age, these children are completely dependent on a wheelchair.
- Respiratory system disorders also observed.
- 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 shift from foot to foot.
Govers' symptom is also a special indicator. That is, the childto get up from the floor, actively uses his hands, as if climbing 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 even more accompanied by a deterioration in the baby's motor activity.
About the heart muscle
A mandatory symptom of 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 its functionality, on the contrary, is reduced. 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 impairment
It should be noted that Duchenne-Becker muscular dystrophy is not always manifested by such a symptom as mental retardation. This may be due to a deficiency of a substance such as apodystrophin, which is necessary for the functioning of the brain. 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 maladjustment.
Disorders of the endocrine system
Various endocrine disorders occur in no more than 30-50% of all patients. Most often it is overweight, obesity. At the same time, children also have a lower height than their peers.
Outcome
What is the clinical and epidemiological characteristics of Duchenne muscular dystrophy? Thus, the incidence of the disease is 3.3 patients per 100,000 he althy 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, these patientsalmost never live past 30 years.
Disease diagnosis
What procedures can help diagnose Duchenne muscular dystrophy?
- Genetic testing, i.e. DNA analysis.
- Electromyography when primary muscle change is confirmed.
- Muscle biopsy, when the presence of dystrophin protein in the muscle is determined.
- A 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 glucocorticosteroid therapy, which is designed to slow down the development of the disease. Other procedures that can also be used for this problem:
- Additional ventilation.
- Medicine therapy, which is aimed at normalizing the work of the heart muscle.
- Using a variety of devices that increase patient mobility.
It is also important to note that the latest techniques are being developed today, which are based on gene therapy, as well as stem cell transplantation.
Other muscle diseases
There are also other muscular congenital diseases of children. These diseases include, in addition toDuchenne:
- Becker's dystrophy. This disease is very similar to Duchenne.
- Dreyfus muscular dystrophy. It is a slowly progressive disease in which intelligence is preserved.
- Progressive muscular dystrophy of Erb-Roth. Manifested in adolescence, progression is rapid, disability occurs early.
- Shoulo-scapulo-facial form of Landouzy-Dejerine, when muscle weakness is localized in the face, shoulders.
It should be noted that none of these diseases cause muscle weakness in newborns. All symptoms occur mainly in adolescence. The life expectancy of patients most often does not exceed 30 years.
