There are a huge number of different diseases that occur in children regardless of circumstances or environmental effects. This category is precisely hereditary diseases. Now we will talk about such a problem as Duchenne muscular dystrophy: what kind of ailment is it, what are its symptoms and is it possible to 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 malfunctions that occur at the genetic level.
Duchenne muscular dystrophy is a hereditary disease. It manifests itself very quickly, the main symptom in this case is a rapidly progressing muscle weakness. It should be noted: like all other muscle diseases, Duchenne’s disease also leads to muscle atrophy, impaired motor skills 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 muscular dystrophy is a genetic disease. So, a mutation occurs in the gene that is responsible for the production of a particular 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 in the X chromosome. But women cannot get this disease, being only a transmitter of mutations from generation to generation. That is, if the mother passes the mutation to her son, he is 50% likely to get sick. If the girl, she simply will be the carrier of the gene, she will not have clinical manifestations of the disease.
Symptoms: groups
Basically, the disease actively declares 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. It should be noted that all pathological disorders of the medica are conditionally divided into several large groups:
- The defeat of the muscles.
- Damage to the heart muscle.
- Deformation of the skeleton of a child.
- Various endocrine disorders.
- Violations of normal mental activity.
The most common manifestations of the disease
It is also necessary to talk about how Duchenne syndrome manifests itself. Symptoms are as follows:
- Weakness. Which is gradually growing, developing.
- Progressing muscle weakness begins precisely with the upper limbs, then the legs are affected, and only then - all other parts of the body and organs.
- The child loses the opportunity to move around. By around the age of 12, such children are already completely dependent on a wheelchair.
- Respiratory system disorders are also observed.
- Well, of course, there are violations in the work of the cardiological system. Irreversible changes in the myocardium later occur.
About skeletal muscle damage
It is muscle damage that is the most common symptom when it comes to a problem such as Duchenne syndrome. It should be noted that children are born without special deviations in development. At a young age, guys are less active and mobile than peers. But most often this is associated with the temperament and character of the child. Therefore, deviations are very rarely seen. More significant signs are already apparent while the baby is walking. Such kids can move on toes, not getting on their full foot. They also often fall.
When the boy can already speak, he constantly complains of weakness, pain in the limbs, and rapid fatigue. Such crumbs do not like to run, jump. They do not like any physical activity, and they try to avoid it. To "say" that the baby has Duchenne muscular dystrophy, maybe even a gait. She becomes like a duck. The boys, as it were, are shifting from one foot to another.
A special indicator is also a symptom of Govers. That is, the child, in order to rise from the floor, actively uses his hands, as if climbing on his own.
It should also be noted that with a problem such as Duchenne syndrome, the child’s muscles atrophy gradually. But it often happens that the crumbs seem to have very developed muscles. The boy, even at the first rebound, is as if pumped up. But this is just an optical illusion. The thing is that in the process of the disease, muscle fibers gradually disintegrate, and adipose tissue takes their place. Hence, such an impressive appearance.
A bit about skeleton deformation
If the child has Duchenne’s progressive muscular dystrophy, then the shape of the skeleton will gradually change in the boy. 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, a stoop will appear and, of course, the normal shape of the foot will change. All this symptomatology will to an even greater extent be accompanied by a deterioration in the motor activity of the baby.
About the heart muscle
A mandatory symptom in this disease is also damage to the heart muscle. There is a violation of the heart rhythm, there are regular drops in blood pressure. In this case, the heart increases in size. But its functionality, on the contrary, is decreasing. And as a result, heart failure gradually forms. 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 is not always manifested by a symptom such 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 disorders can be very different - from weak mental retardation to idiocy. The aggravation of these cognitive impairments is also facilitated by the inability to attend kindergartens, schools, mugs and other places of gathering of children. The result is social maladaptation.
Endocrine Disorders
Various endocrine disorders are found in no more than 30-50% of all patients. Most often this is just overweight, obesity. At the same time, children also have a lower growth than peers.
Disease outcome
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 muscle atrophy is gradually progressing, and by the age of 15 the boy can no longer do without the help of others, being completely immobilized. To all this, there is also a frequent attachment of various bacterial infections (most often it is the genitourinary and respiratory systems), with improper care for the child, bedsores occur. If problems with the respiratory system combine with heart failure, this can be fatal. Generally speaking, such patients almost never live for more than 30 years.
Diagnosis of the disease
What procedures can help identify with a diagnosis of Duchenne muscular dystrophy?
- Genetic testing, i.e. DNA analysis.
- Electromyography, when a primary muscle change is confirmed.
- A muscle biopsy when a dystrophin protein is detected in a muscle.
- 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 onset of symptoms, which will make the patient's life a little easier and more convenient. So, after such a diagnosis is made to the patient, 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 of the lungs.
- Drug therapy, which is aimed at normalizing the work of the heart muscle.
- The use of various devices that increase patient mobility.
It is also important to note that today the development of the latest techniques that are based on gene therapy, as well as stem cell transplantation, is underway.
Other muscle diseases
There are also other muscular congenital diseases of children. Such diseases can be attributed, in addition to Duchenne dystrophy:
- Becker dystrophy. This disease is very similar to Duchenne syndrome.
- Muscular dystrophy of Dreyfus. This is a slowly progressing disease in which intelligence is maintained.
- Erb-Roth progressive muscular dystrophy. It manifests itself in adolescence, progression is rapid, disability occurs early.
- The shoulder-and-facial form of Landusi-Dejerine, when muscle weakness is localized in the face and shoulders.
It should be noted that not one of these diseases shows muscle weakness in newborns. All symptoms occur mainly in adolescence. The life expectancy of patients most often does not exceed 30 years.