Duchenne muscular dystrophy is a rare genetic disease that affects only men and is characterized by a lack of a protein in the muscles, called dystrophin, that helps keep muscle cells healthy; as a result, this disease causes a gradual weakening of the entire body’s musculature., making it difficult for the child to reach important stages of development, such as sitting, standing, or walking.
In many cases, this disease is not identified until after 3 or 4 years of age when the child has changes in the way he walks, runs, climbs stairs or rises from the ground, since the affected areas are first the hips, thighs and With age, the disease affects more muscles and many children end up depending on a wheelchair around 13 years.
- Duchenne muscular dystrophy is incurable.
- But its treatment can delay the development of the disease.
- Control symptoms and prevent the onset of complications.
- Especially at the heart and respiratory level.
- So it is very important to have treatment with a pediatrician or other doctor who specializes in the disease.
The main symptoms of Duchenne muscular dystrophy are generally identifiable from the first year of life to 6 years, gradually worsening over the years, until, around the age of 13, the child becomes dependent on the wheelchair.
Some of the most common signs and symptoms include
Already in adolescence, the first most serious complications of the disease may begin to appear, namely shortness of breath due to weakening of the diaphragm and other respiratory muscles, or even heart problems, due to weakening of the muscle.Heart.
When complications begin to occur, your doctor may adjust treatment to try to include treating complications and improving quality of life.In the most severe cases, hospitalization may even be necessary.
In many cases, the pediatrician will only suspect Duchenne muscular dystrophy by evaluating the signs and symptoms presented during development.However, blood can also be drawn to identify the amount of certain enzymes, such as creatinfosfocinasa (CPK), which is released into the blood during muscle degradation.
There is also genetic testing, which allows for a more blunt diagnosis, and that look for changes in the genes responsible for the onset of the disease.
Although Duchenne muscular dystrophy is not cured, there are treatments that help prevent its rapid worsening and help control symptoms as well as the onset of complications.Some of these treatments include:
In most cases, Duchenne muscular dystrophy is treated with corticosteroids such as prednisone, prednisolone or deflzacort, drugs that should be used for life and have the effect of regulating the immune system, acting as anti-inflammatory and delaying the loss of muscle function.However, prolonged use of corticosteroids often causes several side effects such as increased appetite, weight gain, obesity, water retention, osteoporosis, short stature, high blood pressure and diabetes, and should only be used under the supervision of the doctor.what corticosteroids are and how they affect health.
The types of physical therapy commonly used to treat Duchenne muscular dystrophy are motor and respiratory physiotherapy and physical therapy, which aims to delay inability to walk, maintain muscle strength, relieve pain and prevent respiratory complications and bone fractures.
Life expectancy for Duchenne muscular dystrophy was between 16 and 19 years, however, with the advancement of medicine and the emergence of new therapies and care, this expectation increased, so a person undergoing the treatment recommended by the doctor can live more than 30 years.and have a relatively normal life, with cases of men living more than 50 years with the disease.
The main complications caused by Duchenne muscular dystrophy are
In addition, patients with this dystrophy may have moderate mental retardation, but this characteristic is not related to the duration or severity of the disease.
As a genetic disease, Duchenne muscular dystrophy occurs when a mutation occurs in one of the genes responsible for the production of the dystrophin protein in the body, the DMD gene.This protein is very important because it helps muscle cells stay healthy over time, protecting them from injuries caused by normal contraction and relaxation of muscles.
Thus, when the DMD gene is altered, not enough proteins are produced and the muscles eventually weaken and suffer injuries over time.This protein is important for both the muscles that regulate movement, as well as for the heart muscle.