Genetic diseases belong to the group of severe pathologies, the treatment of which today is difficult. Among these chromosomal abnormalities, various abnormalities occur. Many of them have neurological symptoms. Examples are Duchenne, Becker myodystrophy. These diseases develop in childhood and have a progressive course. Despite the achievements of neurology, such pathologies are difficult to treat. This is due to chromosomal changes that are laid in the process of body formation.
Description of Duchenne myodystrophy
Duchenne myodystrophy is a genetic disease that manifests itself with progressive disorders of the muscular system. Pathology is rare. The prevalence of the anomaly is approximately 3 people per 10 thousand males. In almost all cases, the disease affects the boys. Nevertheless, the development of myodystrophy among girls is not excluded. This pathology manifests itself in early childhood.
Another disease that has the same causes and symptoms is Becker myodystrophy. It is characterized by 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 myodystrophy, this pathology is common among the male population. The frequency of occurrence is 1 person per 20 thousand boys.
Duchenne myodystrophy: neuroimmunology of the disease
The cause of both pathologies lies in the violation of the X chromosome. Genetic changes that occur during Becker and Duchenne myodystrophy were studied back in the 30s of the last century. However, etiological therapy has not yet been found. The inheritance type of anomaly is recessive. This means that if a pathological gene is present in one of the parents, the probability of having a sick child is 25%. The X chromosome is the longest in the body. In both types of dystrophy, the violation occurs at the same locus (p21). This damage leads to a decrease in the synthesis of protein, which is part of the cell membranes of muscle tissue. With Duchenne myodystrophy, it is completely absent. Therefore, violations appear much earlier. With Becker myodystrophy, the protein is synthesized in small quantities or is pathological.
The clinical picture of myodystrophy
Duchenne myodystrophy is characterized by damage to the neuromuscular system. The disease can be suspected at the age of 2-3 years. During this period, it becomes noticeable that the child lags behind his peers in physical development, walks badly, runs and jumps. It’s hard for such kids to climb the stairs, they often fall. Muscle damage begins with the lower extremities. Later it extends to all proximal sections of the 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. Damage to the muscles and constant load on them lead to contractures - persistent curvature of the limbs. In addition, patients with Duchenne myodystrophy have heart diseases that periodically make themselves felt. Also, 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. A gradual change in gait occurs, shakiness appears, and later contractures develop. Violations of the cardiovascular system are weak. Intelligence in this disease usually does not decrease.
How to diagnose myodystrophy?
The diagnosis of Duchenne myodystrophy (or Becker) can be made by an experienced neurologist. First of all, it is based on the clinical picture of these diseases. Attention is drawn to symptoms such as thinning of the muscles of the proximal sections, false hypertrophy of the calf muscles (occurs due to fibrosis and deposition of adipose tissue). These manifestations are almost always combined with cardiovascular pathologies. On the ECG, rhythm disturbance, left ventricular hypertrophy can be noticed .
Also, patients with Duchenne myodystrophy are slightly behind their peers in mental development. To determine this, a psychologist works with the children. If this disease is suspected, myography is performed (determination of the electrical potential of the muscles) and echocardiography - a study of the heart chambers. In order to accurately determine the presence of pathology, genetic diagnosis is performed. With Becker and Duchenne myodystrophy, patients should be observed in several specialists. Among them - a neurologist, psychologist and cardiologist.
Treatment
Unfortunately, the etiological treatment of Duchenne and Becker myodystrophy has not been developed. Nevertheless, patients are shown symptomatic and supportive therapy. At the early stages of the disease, physical therapy courses and massage are conducted. With significant disability, it is necessary to perform passive movements of the limbs. To slow the progression of the development of extensor contractures, resort to fixing the legs during sleep. Supportive therapy prolongs the life of patients and alleviates the symptoms of the disease. Use calcium preparations, medicines "Galantamine" and "Proserin". In some cases, hormones are prescribed, mainly Prednisolone. With progressive disorders of the heart, cardioprotectors are prescribed.
Duchenne and Becker myodystrophy: prognosis
The prognosis of Duchenne myodystrophy is disappointing. The early development of symptoms and the rapid progression of the disease lead to disability in childhood. Patients with this pathology require constant care. The average life expectancy of patients is about 20 years. Becker myodystrophy is characterized by a favorable course. With constant monitoring by doctors and following their instructions, the patients' performance remains until 30-35 years.