CAUSES OF MUSCULAR DYSTROPHY
Muscular dystrophy is a muscle disease, more precisely, a group of diseases that leads to weakness and degenerative changes in the muscles. Dystrophy more often affects skeletal muscles. They gradually weaken, lose the ability to contract, decrease in volume and are replaced by connective or adipose tissue.
The cause of the disease is a mutation of a gene that is responsible for the synthesis of proteins in muscle tissue cells. Various types of genes can be affected – both located in the sex chromosome and not related to it. The mechanism of hereditary transmission of the disease depends on this (for example, the Duchenne gene associated with the sexual X chromosome is transmitted through the male line; women do not suffer from dystrophy caused by this gene, although they are its carriers).
FORMS AND SYMPTOMS OF MUSCULAR DYSTROPHY
Forms:
Duchenne muscular dystrophy – it affects mainly boys; it manifests itself at the age of 2-5 years, first the muscles of the legs and pelvic area are affected, then the higher located muscles. Due to the breakdown of muscle tissue and the proliferation of fatty and connective calf muscles increase in volume. The disease progresses rapidly, which is why by the age of 12 a person can no longer move, and by the age of 20 most patients die.
Myotonic muscular dystrophy – most often develops in men and women from 20 to 40 years old, slowly progresses. It is distinguished by the weakness of the facial muscles and the delayed relaxation of the muscles after their contraction. Skeletal muscles, facial muscles, limbs are affected, and the heart muscle and muscles of internal organs can be affected.
Becker’s muscular dystrophy is a rare form that develops quite slowly and allows people suffering from it to maintain a satisfactory condition for a long time. Complications arise only due to concomitant injuries and diseases. It affects most often people of short stature.
The youthful form of Erba-Rota – the disease develops at the age of 10-20 years and begins with atrophy of the muscles of the arms, shoulder girdle, then the pelvic area and legs. Slowly progressing.
Shoulder-shoulder-facial form of muscular dystrophy – begins with a lesion of the facial muscles, then – a gradual atrophy of the muscles of the shoulder girdle, trunk, arms and legs. It is manifested in the early stages by insufficient closing of the eyelids, lips, problems with diction. The ability to work persists for a long time, problems begin only 15-25 years after the onset of the disease, when it becomes difficult for the patient to move due to pelvic muscle atrophy.
Symptoms common to all forms are:
decreased muscle tone;
gait disorders, frequent falls;
gradual loss of physical skills (in children) – such as the ability to sit, walk, etc.;
absence of muscle pain and normal sensitivity with pronounced muscle weakness, constant complaints of fatigue;
atrophy of skeletal muscles;
increase in muscle size (especially calves) due to the replacement of muscle tissue with adipose and connective tissue.
For diagnosis, the doctor examines the family history to find out if there are cases of the disease in the family. The studies that are carried out at the diagnostic stage are electromyography, microscopic examination of a muscle tissue site, if technically possible, immunological and molecular biological studies.
TREATMENT OF MUSCULAR DYSTROPHY
The cure of muscular dystrophy is impossible. Therapy can only slow down muscle dystrophy by administering medications containing vitamin B1, corticosteroids, stem cells, adenosine triphosphate, etc. Physiotherapy, therapeutic gymnastics, respiratory gymnastics are also carried out.
Modern methods make it possible to predict the risk of developing muscular dystrophy in a child during pregnancy.
