Duchenne myopathy: how to extend the life of a person with a genetic disease


Once an active child, already able to sit, walk, run, gradually loses the ability to move. First, the muscles of the limbs are affected, followed by all the other organs. The disease leads to serious consequences.

Myopathy: species

It is customary to include in the group of myopathies chronic, progressively progressive diseases associated with the defeat, disappearance of muscle fibers, their replacement with fatty or connective tissues. Clear classification does not exist today.

Many researchers identify pathologies in the predominant lesion area, for example, the face-scapular-brachial, limb-cingulate. Others talk about myopathies depending on the nature of the causes – hereditary or acquired. Pathologies are divided according to what is primarily affected – proteins or .

Duchenne myopathy: how to extend the life of a person with a genetic disease

It is also accepted to single out individual diseases:

  1. Duchenne muscular dystrophy. The disease occurs in 0.03% of cases. Developed in boys up to 5 years. This is one of the most severe forms of myopathy. On average, by the age of 15, the child loses the ability to move and self-serve. Pathology first affects the muscles of the lower extremities, then the upper. In some cases, mental retardation develops.
  2. Juvenile muscular dystrophy of Erba-Rota. The disease is usually registered in adolescence and youth under the age of 20 years. The pelvic and lower extremity muscles are affected. The patient is distinguished by a gait, resembling a duck, a thin waist. Marked pterygoid scapulae. The examination reveals a deterioration of the tendon reflexes. From the prone position, the patients get up using their hands.
  3. Shoulder-facial form Landusi-Dejerine. Myopathy of this form is distinguished by damage to the muscles of the face, shoulder girdle, and shoulder blades. The extensor muscle of the fingers suffers. A change in breast shape is detected. The disease is first diagnosed at the age of 10 to 20 years. Unlike many myopathies, this form develops slowly and has a relatively favorable prognosis.
  4. Distal myopathy (type Welander). Appears after 20 years. It is associated with a decrease in the volume of muscle tissue in the ankle, knees, forearms, and hands. Disability can occur in 10 years or even later.
  5. Late dystrophy of Becker. It is found in from 5 years and young people up to 20 years. Manifested by weakness of the muscles, high fatigue, replacement of muscle tissue with adipose tissue. First, the pelvic muscles, thighs, lower legs are affected, then the disease affects the hands. The intelligence remains intact.


Most clearly the signs of pathology are manifested in Duchenne myopathy. Symptoms in children appear at the age of one and a half years. First, the muscles of the legs suffer. The child becomes difficult to walk, he quickly gets tired, falls, can not climb the stairs. Falls and fatigue lead to the fact that he feels fear and tries to move as little as possible. Gait begins to resemble a duck.

Gradually, the child can rise using only his hands, but they gradually weaken as well. Over time, the muscles of the chest, heart, and respiratory organs are affected.

Duchenne syndrome is characterized by the gradual disappearance of the muscles, but outwardly it is imperceptible. On the contrary, it seems that they are getting bigger. This happens because of the replacement of adipose muscle tissue.

The disease leads to a violation of the skeleton. The volume of movement of joints decreases, the spine is bent, the foot and fingers are deformed.

Damage to the muscles of the heart leads to dyspnea, arrhythmia, and pressure instability. Breathing becomes shallow.

The reasons

The basis of the development of myopathy is gene mutation. In Duchenne muscular dystrophy, the leading role is played by a change in the gene associated with the synthesis of dystrophin protein located on the X chromosome. Up to 70% of cases of pathology occur as a result of the inheritance of a mutated gene from the mother. The remaining 30% is associated with new pathological changes occurring in the egg. The same reasons cause the pathology of Becker. However, Duchenne myopathy is caused by a complete blockage of dystrophin production.

Transmission of the mutated gene occurs from mother to son, while the woman is only a carrier.

The absence of dystrophin leads to the destruction of muscle tissue, its replacement by connective and adipose tissue. At the same time, the contractility of the muscles decreases, the tone weakens, and their atrophy occurs.


In order to confirm the diagnosis, clarifying the type of myopathy, several studies are conducted:

  1. DNA analysis. Allows to detect gene mutations. This study is currently considered the most informative method. The study is done in the perinatal period, after the birth of the child. The test is also carried out to parents planning a pregnancy, if there are patients with myodystrophy among their relatives.
  2. Biopsy of muscle fibers. The doctor takes a sample of muscle tissue for histological examination and clarification of the presence of dystrophin protein.
  3. Electromyography. This method allows you to assess the state of muscle tissue, detect necrosis, especially the conduct of impulses in nerve tissues.
  4. Blood biochemistry. Refine the level of the enzyme creatine phosphokinase. An increase in its content indicates the presence of pathology.
  5. ECG. Detects signs of damage to the heart muscle.

Conducting these studies can detect Erb-Roth’s dystrophy, Duchenne’s disease, inflammatory, metabolic myopathies, Becker myodystrophy, Dreyfus dystrophy, polymyositis.


There is currently no way to completely cure the disease. Therapy is symptomatic, its goal is to extend a person’s life, to make it better. Drugs, orthopedic products, physiotherapy, physiotherapy, massage are used. Recommended the regular conduct of spa treatment.

The development and introduction of new methods of treatment is important. So, stem cells are being tested today. According to scientists, they can replace damaged muscle cells. Another new way is gene therapy. Her goal is to activate a gene that is associated with the production of the utofin protein. Scientists believe that it is similar to dystrophin and can compensate for its deficiency.

Drug therapy

Treatment of glucocorticosteroids (Prednisone) helps to reduce the manifestation of myopathy symptoms. Means of this group do not have a long-lasting effect and give adverse reactions, for example, lead to excess weight, thrush.

Acetylcholinesterase inhibitors, in particular, Proserin, improve the transmission of nerve impulses. Beta-adrenergic drugs slow down the onset of symptoms of the disease, help improve muscle tone and strength. Anabolic steroids (Nandrolone Decanoate) can help improve tissue metabolism.

The use of vitamins A, B, C, E is shown.


The use of physiotherapeutic methods can improve the conductivity of nerve impulses to the muscles, improve their nutrition, metabolism, blood circulation.

Electrophoresis, ultraphonophoresis, balneotherapy, hydromassage, laser treatment are used.


The main goal of the massage is to increase muscle tone. To obtain the effect it is carried out several times a year. In many cases, the relatives of the patient are encouraged to learn massage techniques for regular home use.

Physical exercise

In the treatment of myopathy, exercise therapy is of great importance. The complex of elements, their complexity depends on the degree of development of the pathology. During the year, up to 4 courses of physical therapy with a physiotherapist in special centers. In between courses, the exercises are done at home. Lack of exercise leads to the rapid development of the disease.

Patients recommended to visit the pool. Swimming, exercise in contributes to the development of muscles. At the same time there is no load on the spine. In addition, being in the water improves mood, gives joy.


Duchenne myopathy causes severe complications. They are associated with lesions of various organ systems:

  1. Problems with the respiratory system. Muscle weakness leads to shallow breathing and the inability to clear your throat normally. As a result, the sputum remains in the lungs and bronchi. This leads to frequent respiratory diseases. In order to prevent them, they are vaccinated and begin treatment immediately after the first manifestations of ARVI. In severe cases, carry out the suction of mucus. Another problem is a decrease in the level of oxygen in the blood, which causes sleep disturbances, pain in the head, irritability.
  2. Cardiomyopathy. The weakening of the heart muscle leads to arrhythmias, heart failure. The patient suffers from shortness of breath, weakness, swelling.
  3. Chair disturbances. A sedentary lifestyle causes constipation. For its prevention, it is recommended to eat fiber-rich meals, take laxatives.
  4. Osteoporosis. Immobility and hormone therapy are the main causes of reduced bone density. Prevention of this complication is associated with the additional intake of drugs that contain calcium and vitamin D. If the disease has already been diagnosed, bisphosphonates are recommended.
  5. Skeleton pathology. Progressive muscle tissue atrophy causes spinal curvature of the type of kyphosis and scoliosis. Patients are advised to wear corsets, in severe cases surgery is performed.
  6. Increase or decrease in body weight. Acceptance of corticosteroids leads to overweight. However, there are also reverse situations when patients lose it due to muscle atrophy. In any case, patients are shown a special .
  7. Disturbance of food intake. The patient gradually loses the ability to chew, swallow. To maintain life, intravenous feeding or gastrostomy is performed. In the latter case, patients eat through a special tube.


Pathology Duchenne is progressive. The prognosis of its course is extremely unfavorable, most patients do not live to be 30 years old. The main causes of death are comorbidities associated with cardiac activity and respiration.

In many ways, life expectancy depends on care, adherence to treatment, including physiotherapy, massage, and physical therapy if possible. 


Pathology is hereditary. Preventive measures aimed at preventing the development of Duchenne myopathy do not exist. If any of the relatives of the couple has this disease, it is recommended to do a DNA test before the onset of pregnancy. They also conduct research in the early stages: on the 11-14th week, chorionic biopsy is performed, after the 15th week – amniocentesis, on the 18th week fetus blood is taken. If a positive result, a special medical commission will recommend abortion.

Symptoms of myopathy appear gradually. For several years, a person loses self-care skills, loses the ability to move independently. Cure pathology is currently impossible. Supportive symptomatic treatment is carried out. The prognosis is unfavorable.

The following sources were used to prepare the article:

Latysheva V. Ya., Drivotinov B.V., Olizarovich M.V. // Neurology and Neurosurgery: studies. allowance – Minsk, Higher. wk 2013

The authors’ team // Nervous diseases – “SpecLit”, 2011 (Textbook for secondary medical schools).

Kurushina O. V., Andryushchenko F. A., Agarkova O. I., Dvoretskaya Yu. A. The modern approach to the diagnosis and treatment of primary and secondary myopathies // VolgGMU – 2017 Issue 1 (61).

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