Duchenne's myopathy is a formidable primary muscular dystrophy

Duchenne's myopathy is a serious disease that is characterized by primary muscular dystrophy.

This pathology develops since childhood and can provoke a lethal outcome to 25 years, therefore it requires timely diagnosis and treatment. It is impossible to overcome the disease independently, the only thing a patient can do is follow the expert's recommendations and carry out preventive measures.

Characteristics of the disease

The disease is named after its discoverer - Duchene, who was able to prove the genetic nature. Duchenne myopathy is not

refers to common pathologies, since there is one case for 3.5 million children born. It is diagnosed exclusively in the male half of the population aged 1.5 to 3 years. The disease is rapidly progressing.

With the development of the syndrome, there is a process of muscle malnutrition, which is of an upward character. First of all, the pelvic muscles and the proximal leg section are affected, then the pathology begins to spread to the muscles of the back and shoulders, the final stage affects the upper limbs.

But it is worth considering the fact that the disease has a negative impact on other parts of the body:

• deformation of the spine;
• there is a curvature of the feet and chest;
• heart disease.
• the patient has a debility, which affects a third of patients.

As for the prognosis for Duchenne's myodystrophy, it is not very favorable, as there is an intensive progression of the syndrome.

The child gradually ceases to walk to the age of ten. Lethal outcome occurs as a result of infection of the respiratory tract or cardiac arrest.

Type of inheritance

Duchesne Syndrome refers to diseases that are inherited. Carriers of the pathogenic gene are women.

Inherited from a recessive type linked to an X chromosome. Most of the cases in which myopathy was detected were triggered by new mutational genes. This type of disease refers to the rapidly progressing and malignant.

Clinic of

syndrome Mycopathy Duchenne begins to manifest in boys at the age of 1.5 years, the first symptoms are:

• impairment of motor function, the patient is difficult to stand, he is uncomfortable;
• the boy often stumbles, falls during walks, as a result motor impulsiveness develops;
• child is a difficulty to climb up the stairs, the gait is similar to the "duck";
• it is difficult for a child to get out of bed or from a chair;
• hypertrophy of gastrocnemius muscles is observed, this sign is the most striking one, which immediately indicates the progression of the disease;
• heart disease;
• disorders in biopsies of skeletal muscle;
• contraction of large joints, deformation of the foot is observed in the patient as a result of intensive development of pathology;
• at the age of ten the child stops moving independently and becomes chained to a wheelchair;
• at the age of 14 the child becomes a complete disability.

If you have identified the above symptomatology it is worth immediately going through the examination and treatment. In this situation, it is not worth spending a minute, as the patient's life depends on it.

Diagnosis of

First of all, the patient is examined to identify the external manifestations of Duchenne's disease. The child is then referred for an additional examination, which is as follows:

• electrocardiogram helps to detect myocardial lesion of the lateral and posterior-lower walls of the left ventricle;
• determination of the level of dystrophin in muscle tissue;
• biochemical blood test, helps to identify the activity of the enzyme creatine phosphokinase;
• it is obligatory to carry out genetic diagnostics;
• conducts electroneuromyography, helps to identify necrosis of muscle tissue;
• muscle biopsy, is considered the main method of diagnosing myopathy.

Based on the results obtained, a final diagnosis is made and therapy is prescribed.

Treatment: goals, methods, difficulties

Treatment of Duchenne myopathy is impossible, you can only extend the life time and maintain the patient's condition at a stable level.

Various methods of modern medicine help to alleviate the condition, slow the progression of the disease. Below, treatment of Duchenne's myodystrophy for different ages will be presented, but there are cases when several therapies are required:

1. Patient under 5 years old .In this situation, radical treatment is not required. It is recommended to inform parents about the disease, to talk about the problems and consequences, to tell what kind of loads are acceptable for the child, and to conduct mandatory genetic counseling.
2. Patient under the age of 8 years old .Most children at this age already require the support of the muscles of the lower limbs. Corticosteroids help slow the course of the disease for some time. It is recommended to take Prednisolone or Deflazacort.
3. Patient aged 8 to 20 years .There is a gradual weakening of the muscles, which as a result causes the child to resort to a wheelchair.
4. A patient aged 20 years or older .Drugs in this situation will only help ease the condition, the infection of the respiratory tract begins to progress.

Throughout life, the patient must take medications that provide support for the body:

• vitamins B and E, amino acids, calcium, anabolic hormones, potassium orotate;
• Prozerin, Galantaminon, Oxazilone.

Also, courses are carried out with injections of Retabolil, ATP, Cerebrosilil, Anarilin. It is recommended to take glutamic acid, Eksazil.

In parallel, the treatment of exercise therapy, which is carried out short courses with interruptions. It is also recommended to do massage, Prozerin electrophoresis, lipase, calcium chloride, use therapeutic baths and inductothermy. In especially severe cases, treatment is done at home. To prolong life for several years you can try glucocorticoid treatment.

In parallel, the patient must be constantly monitored by a cardiologist. Also, a child must be fully nourished. The diet includes: vegetable fats and protein foods, fresh or steamed vegetables, fruits, dairy products, oatmeal, eggs, honey, nuts and carrots. Do not consume strong tea or coffee, spirits, seasonings, sugar, cabbage and potatoes.

Complications and consequences

As mentioned earlier, this disease greatly shortens the life of a person and this can be considered the most serious consequence. As the pathology progresses rapidly, the muscles become weak, irreversible effects occur in the work of the heart, a malfunction of the respiratory system is observed.

If Duchene's myopathy is detected in a timely manner and the treatment is selected correctly, the patient will be able to live up to 30 years.

Complications include such diseases and pathologies:

1. Osteoporosis .To try to delay this pathology is recommended to take vitamin D and calcium, so it is necessary to adjust the diet. With osteoporosis, biosphosphonates are taken. Diseases of the joints and spine .The joints become almost completely mobile, so it is recommended to wear tires. In some cases, operations are carried out.
2. Digestive system diseases and weight problems .With age, a person begins to lose weight because of necrosis of the muscles, so a constant consultation of a nutritionist is required. The patient can also be disturbed by constipation, which is also a consequence of a sedentary lifestyle. In this situation, it is recommended to take laxatives, more foods that are rich in fiber. At the age of 17 years, the patient may have problems with chewing and swallowing function. In rare cases, gastrostomy is performed.
3. Respiratory function disorders .Because of the weak cough mechanism, respiratory infections may progress, as bacteria and mucus are not eliminated. As a preventive measure, vaccination is recommended. Also, as the pathology progresses, the patient experiences a decrease in the level of oxygen in the body, resulting in morning headaches, insomnia, weakness, nervous excitability, especially in sleep. Heart Diseases .In most cases, cardiomyopathy develops.

Prevention of the disease is difficult, because this pathology is genetic, so you need to pay attention to the consultation of geneticists for families with hereditary heredity.