Duchenne and Becker's myodystrophy: treatment

Genetic diseases are classified as a group of severe pathologies, whose treatment today presents difficulties. Among the similar chromosomal abnormalities there are various disorders. Many of them have neurological symptoms. Examples are Duchenne's myodystrophy, Becker. These diseases develop as early as childhood and have a progressive course. Despite the achievements of neurology, such pathologies are not amenable to treatment. This is due to chromosomal changes, which are laid in the process of the formation of the organism.

Description of Duchenne's myodystrophy

Dushenne's myodystrophy is a genetic disease that manifests progressive muscular dysfunction. Pathology is rare. The prevalence of the anomaly is about 3 people per 10 thousand male. The disease in almost all cases affects the boys. Nevertheless, the development of myodystrophy among girls is not ruled out. This pathology manifests itself in early childhood.

Another disease that has the same causes and symptoms is Becker's myodystrophy. It is distinguished by a more favorable current. The defeat of muscle tissue occurs much later - in adolescence. At the same time, the symptoms develop gradually, and the patient remains able to work for several years. Like Duchenne's myodystrophy, this pathology is common among the male population. The frequency of occurrence is 1 person per 20 thousand boys.

Duchenne's myodystrophy: neuroimmunology of the disease

The cause of both pathologies lies in the violation of the X chromosome. Genetic changes occurring in the mictodystrophy of Becker and Duchenne, were studied back in the 30s of the last century. Nevertheless, etiological therapy has not yet been found. Type of inheritance anomaly is recessive. This means that if the pathological gene is present in one of the parents, the probability of producing a sick child is 25%. The X chromosome is the longest in the body. In both types of dystrophies, the disorder occurs in the same locus (p21). This damage leads to a decrease in the synthesis of protein, which is part of the cellular membranes of muscle tissue. With Duchenne's myodystrophy, he is completely absent. Therefore, violations occur much earlier. In Bekker's miodystrophy, the protein is synthesized in small amounts or is pathological.

Clinical picture of myodystrophy

Duchenne's myodystrophy is characterized by the defeat of the neuromuscular system. The disease can be suspected at the age of 2-3 years. During this period it becomes apparent that the child lags behind in physical development from her peers, walks badly, runs and jumps. It is difficult for these babies to climb stairs, it often falls. The defeat of the muscles begins with the lower extremities. Later it extends to all proximal parts of the musculature. Degeneration occurs in the upper humeral girdle, the quadriceps muscle of the thigh. In these places there is a thinning of the musculature. Over the years, myodystrophy is progressing. The defeat of the muscles and the constant stress on them lead to contractures - persistent curvature of the limbs. In addition, patients with Duchenne myodystrophy have cardiac diseases that periodically manifest themselves. Also for this pathology is characterized by a decrease in intellectual abilities (not very pronounced).

Becker's myodystrophy has the same symptoms, but develops later. The first manifestations are observed in 10-15 years. Gradual change of gait occurs, shakiness appears, later contractures develop. Disorders from the cardiovascular system are poorly expressed. Intellect in this disease usually does not decrease.

How to diagnose myodystrophy?

The diagnosis of "Duchenne's myodystrophy" (or Becker) can put an experienced neurologist. First of all, it is based on the clinical picture of these diseases. Attention is drawn to such symptoms as the thinning of the muscles of the proximal parts, false hypertrophy of the gastrocnemius muscles (arises from fibrosis and adipose tissue deposition). These manifestations are almost always combined with cardiovascular pathologies. On the ECG, you can see a disturbance in the rhythm, hypertrophy of the left ventricle.

Also, patients with Duchenne's myodystrophy slightly lag behind their peers in mental development. To determine this, a psychologist works with the children. If suspected of this disease is carried out myography (determining the electrical potential of muscles) and Echoes - the study of the chambers of the heart. To accurately determine the presence of pathology, genetic diagnosis is performed. In patients with Becker and Duchenne mild deodor, patients should be observed with several specialists. Among them - a neurologist, a psychologist and a cardiologist.

Treatment

Unfortunately, the etiological treatment of Duchenne and Becker's myodystrophy has not been developed. Nevertheless, the patient shows symptomatic and supportive therapy. In the early stages of the disease, there are courses of physical therapy and massage. With significant disability, passive limb movements must be performed. To slow the progression of the development of extensor contractures, resort to fixing the legs during sleep. Supportive therapy can prolong the life of patients and ease the symptoms of the disease. They use calcium preparations, "Galantamine" and "Proserin" medicines. In some cases, hormonal drugs are prescribed, mainly "Prednisolone." With progressive heart disorders, cardioprotectors are prescribed.

Duchenne and Becker's myodystrophy: prognosis

The prognosis of Duchenne's myodystrophy is disappointing. Early development of symptoms and rapid progression of the disease lead to disability even in childhood. Patients with this pathology require constant care. The average 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 fulfillment of their instructions, the working capacity of patients remains up to 30-35 years.