The process of protecting the muscles from injuries and injuries is genetically based. For this, certain proteins of the body are responsible, which are produced by the command of certain genes. The process of formation of muscular dystrophy is a genetic defect in the synthesis of one or another type of protein necessary for the full functioning of the muscle.
Muscular dystrophies are very many, and each of them is caused by a breakdown in a certain kind of gene responsible for a particular protein. Mutations of these genes can be inherited from parents to children, and can arise as a result of violations in the early intrauterine period.
The boys with a hereditary predisposition to neurodegenerative and muscular diseases are at greater risk of becoming ill. Muscular dystrophy can occur in children with multiple developmental defects.
Types of muscular dystrophy.
By the time of manifestation, muscular dystrophy happens:.
congenital, the child is born with signs of progressive muscle damage,.
dystrophy in children, starting in early childhood, affecting mainly boys,.
dystrophy in adults, beginning after adulthood or even in adulthood.
There are many different types of dystrophy, but some of them are found more often than others and have the most vivid and expressed clinical symptoms, as well as involve the respiratory and circulatory system, some other organs.
Clinic.
Isolate the typical symptoms of muscular dystrophy - this is a progressive muscle weakness with the inability to perform routine daily activities. Depending on the form, the age of the symptoms, the sequence of their appearance and the defeat of certain muscle groups.
Duchene Dystrophy occurs in half of all cases of dystrophy. Signs of it are manifested with the beginning of independent walking, often occurs in boys. Duchenne's dystrophy is characterized by constant falls on level ground, difficulty getting up from a recumbent or sitting position, disturbing the hopping function, running, learning difficulties and stalling, a sharp increase in the size of the calf muscles.
Becker's dystrophy is similar to the previous one, but the symptoms are not so pronounced. It develops more slowly and progresses more slowly. Symptoms occur after 16-20 years.
Progressive dystrophy of Erba (limb-belt form) occurs after 15-16 years, manifested by the defeat of the muscles of the pelvis and pelvic floor, the muscles on the legs with their weight loss and weakness. Then the process smoothly passes to the shoulder girdle, the abdominal and back muscles suffer, a duck walk arises, difficulty getting up from the bed, a vertebral bend is expressed.
These symptoms require immediate medical attention for treatment, since properly administered therapy can significantly slow down the course of muscular dystrophy.
Diagnostics.
The basis of diagnosis is a description of symptoms and a typical clinical picture of the disease with a change in muscle tone and strength, the size of individual muscle groups - the shoulder, calf, hip. The study completes the enzymatic analysis of blood to the level of creatine kinase with its increase in the absence of obvious and extensive injuries.
Then the electromyography of the muscles is performed in a relaxed and stressed state. To confirm the diagnosis, a muscle biopsy is required using a thick needle or cut. In addition, a thorough genetic study is needed to identify a specific gene mutation.
dr20. en.