Jótékonysági sütivásár (Poroszló)

Duchenne's muscular dystrophy is a congenital, hereditary disease characterized by the progressive destruction of muscle cells. The place of the muscle cells is filled by fat tissue and connective tissue that are incapable of muscle work, as a result of which the patient becomes weaker and weaker, until finally taking care of himself becomes a problem.

Duchenne muscular dystrophy mainly affects boys, it occurs in 1 in 3,600 boys born alive. It is found much less often in girls, they tend to carry the disease, i.e. they are not sick in this case, only the faulty gene is found in their genetic material. The actual cause of the disease is the abnormal production or lack of a protein called dystrophin. Because of this, calcium ions flow into the muscle cells in unlimited quantities, thus causing their destruction.

The disease is characterized by gradually developing, increasingly pronounced muscle weakness and a decline in intelligence. In infancy, the child is usually symptom-free, although a mild degree of muscle weakness can be observed in some of them: sometimes the difficulty in holding the head draws attention to the disease. Children usually learn to turn over, sit up, and walk in time. The disease usually becomes recognizable around the age of 3, when, due to the weakening of the muscles around the hips, the child can stand up by leaning on his knees. Climbing stairs is also a problem for him, his gait will be wobbly. In addition to these symptoms, the firmer feel of the calves and the outwardly muscular shape are striking. As age progresses, the breakdown of more and more muscle fibers occurs throughout the body. The patient's ability to walk deteriorates faster, approx. He stays until he is 10 years old, after which he is forced into a wheelchair. The symptoms of muscle weakness also affect the internal organs: due to the weakness of the pharyngeal and respiratory muscles, the patient easily swallows sideways, coughs with less force, so he is less able to cough up secretions from the lungs, which is why upper respiratory tract colds and pneumonia easily develop. For a child in a wheelchair, the function of breathing is further worsened by chest deformities and increased scoliosis. Life prospects are determined by the weakness of the respiratory muscles and the heart muscle. Later on, due to respiratory weakness, the child is put on a ventilator. In many children, the decline in intelligence is not severe, so they can complete a normal school.

The diagnosis is confirmed by genetic testing, detection of dystrophin deficiency, and CK testing. The latter test refers to the degree of muscle breakdown. Normally, this value is below 160, and in these children it is several tens of thousands. The disease continues to progress, in the final stage it also affects the heart and respiratory muscles, as a result of which patients die at the age of 20 on average.

Steroid treatment slows down the progression of weakness in childhood muscle death, but the process continues anyway, and the muscle cells break down more and more. With appropriate physical therapy, you can extend the life of the fibers that are still intact. Swimming in warm, 32-34 degree water helps to improve blood supply to the muscles. As the disease progresses, the cooperation of physiotherapist and doctor is necessary so that together with the patient they can decide on possible tendon surgery or the use of medical devices to help with movement. Surgery may also be justified in the case of advanced scoliosis.