Genetic diseases belong to the group of severe pathologies, the treatment of which is currently difficult. Among these chromosomal abnormalities, there are various disorders. Many of them have neurological symptoms. Examples are Duchenne and Becker myodystrophy. These diseases develop in childhood and have a progressive course. Despite advances in neurology, these pathologies are difficult to treat. This is due to chromosomal changes that are laid in the process of formation of the organism.
Description of Duchenne muscular dystrophy
Duchenne muscular dystrophy is a genetic disease that manifests progressive disorders of the muscular apparatus. Pathology is rare. The prevalence of the anomaly is approximately 3 per 10,000 males. The disease in almost all cases affects boys. Nevertheless, the development of myodystrophy among girls is not excluded. This pathology manifests itself in early childhood.
Another disease with the same causes and symptomsis Becker's muscular dystrophy. It has a more favorable course. Damage to muscle tissue occurs much later - in adolescence. In this case, the symptoms develop gradually, and the patient remains able to work for several years. Like Duchenne muscular dystrophy, this pathology is common among the male population. The incidence is 1 in 20,000 boys.
Duchenne myodystrophy: neuroimmunology of the disease
The cause of both pathologies lies in the violation of the X chromosome. Genetic changes that occur with Becker and Duchenne myodystrophy were studied back in the 30s of the last century. However, an etiological therapy has not yet been found. The type of inheritance of the anomaly is recessive. This means that if one of the parents has the abnormal gene, there is a 25% chance of having an affected child. The X chromosome is the longest in the body. In both types of dystrophies, the disorder occurs at the same locus (p21). This damage leads to a decrease in protein synthesis, which is part of the cell membranes of muscle tissue. With Duchenne myodystrophy, it is completely absent. Therefore, violations appear much earlier. With Becker's muscular dystrophy, the protein is synthesized in small quantities or is pathological.
Clinical picture of myodystrophy
Duchenne's muscular dystrophy is characterized by damage to the neuromuscular apparatus. The disease can be suspected at age2-3 years. During this period, it becomes noticeable that the child lags behind in physical development from his peers, walks poorly, runs and jumps. It is difficult for such kids to climb the stairs, they often fall. Muscle damage begins with the lower extremities. Later it spreads to all proximal musculature. Degeneration occurs in the upper shoulder girdle, the quadriceps femoris. In these places, thinning of the muscles is observed. Over the years, myodystrophy progresses. The defeat of the muscles and the constant load on them lead to contractures - persistent curvature of the limbs. In addition, in patients with Duchenne myodystrophy, heart diseases are observed, which periodically make themselves felt. Also, this pathology is characterized by a decrease in intellectual abilities (not very pronounced).
Becker's muscular dystrophy has the same symptoms, but develops later. The first manifestations are observed in 10-15 years. There is a gradual change in gait, unsteadiness appears, later contractures develop. Cardiovascular disorders are mild. Intelligence with this disease is usually not reduced.
How to diagnose myodystrophy?
Duchenne (or Becker) myodystrophy can be diagnosed by an experienced neurologist. First of all, it is based on the clinical picture of these diseases. Attention is drawn to such symptoms as thinning of the muscles of the proximal sections, false hypertrophy of the calf muscles (due to fibrosis and deposition of adipose tissue). Datamanifestations are almost always combined with cardiovascular pathologies. On the ECG, you can notice a rhythm disturbance, left ventricular hypertrophy.
Also, patients with Duchenne myodystrophy are slightly behind their peers in mental development. To determine this, a psychologist works with children. If this disease is suspected, myography is performed (determination of the electrical potential of the muscles) and EchoCS - a study of the heart chambers. To accurately determine the presence of pathology, genetic diagnosis is performed. With Becker and Duchenne myodystrophy, patients should be observed by several specialists. Among them are a neurologist, a psychologist and a cardiologist.
Treatment
Unfortunately, the etiological treatment of Duchenne and Becker myodystrophy has not been developed. Nevertheless, symptomatic and supportive therapy is indicated for patients. In the early stages of the disease, physiotherapy exercises and massage are carried out. With significant disability, it is necessary to perform passive movements of the limbs. To slow down the progression of the development of extensor contractures, they resort to fixing the legs during sleep. Supportive care can prolong the life of patients and reduce the symptoms of the disease. Calcium preparations, medicines "Galantamine" and "Prozerin" are used. In some cases, hormonal agents are prescribed, mainly Prednisolone. For progressive cardiac disorders, cardioprotectors are prescribed.
Duchenne and Becker myodystrophy: prognosis
Prognosis of Duchenne myodystrophydisappointing. The early development of symptoms and the rapid progression of the disease lead to disability in childhood. Patients with this pathology require constant care. On average, the life expectancy of patients is about 20 years. Becker's myodystrophy is characterized by a favorable course. With the constant supervision of doctors and the implementation of their instructions, the working capacity of patients is maintained up to 30-35 years.
