Duchenne's Dystrophy is associated with the defeat of the gene, which is responsible for the production of dystrophin, which is the cause of dystrophy. It is inherited by a recessively linked X-chromosome type. Women who have a defective gene pass it on to their children, although they usually have no symptoms of muscular dystrophy. Boys who received this gene will inevitably suffer from muscle weakness. Girls suffer from Duchenne's dystrophy very rarely. This can happen, for example, with structural abnormalities of chromosomes.
Symptoms of muscular dystrophy of Duchesne:
Symptoms of the disease are manifested in the first years of life. Attention is drawn to the lag of these children in development. They start to sit down and get up late, start walking late. In the period from two to five years there is muscle weakness, abnormal fatigue when walking, climbing the stairs, the gait becomes "duck". Muscles atrophy are always symmetrical. First, the major muscles of the pelvic girdle and lower extremities suffer, then the muscles of the upper half of the body, and then all the major muscle groups. Because of atrophy, there is an "aspen" waist, "pterygoid" scapula, lumbar lordosis. The classic symptom of the disease is - pseudohypertrophy of gastrocnemius muscles, i.e. their false increase due to proliferation of connective tissue and fat deposition. Pseudohypertrophy is also evident in deltoid, gluteal muscles, muscles of the tongue, abdomen. With pressure, the muscles are tight and painless.
Features and symptoms of the disease
A distinctive feature of the disease is the combination of this pathology with the pathology of the cardiovascular, neuroendocrine, osteoarticular systems. Cardiovascular disorders are manifested by instability of arterial pressure, pulse, and the expansion of the boundaries of the heart. Atrophy of the muscles develops and in the heart - cardiomyopathy. Neuroendocrine disorders occur in 50% of patients, most often Babinsky-Frohlich dystrophy, Itenko-Cushing syndrome. In many patients there is a decrease in intelligence of different degrees.
Duchenne muscular dystrophy - the most progressive and severe and, moreover, the most frequent form of this disease in children. By the age of twelve, patients lose the ability to move, by the age of fifteen immobility has come, and by the age of 20 most have died. At the last stage, muscle weakness captures the respiratory muscles, muscles of the face and pharynx. Death comes from acute respiratory and heart failure.
Methods of treatment of muscular dystrophy
The cause of muscular dystrophy, the specialists see in a point genetic defect, which disrupts the ability of muscle cells to synthesize the necessary proteins. At present, the gene of muscular dystrophy of Duchesne is revealed.
To date, there are no ways to prevent or inhibit the progression of muscular dystrophy. The treatment is aimed at combating complications and some successes have been achieved in this direction, allowing to improve the quality of life of patients with muscular dystrophy.