The Duchenne muscular dystrophy is a genetic disease involves a degeneration of the bones and muscles of the body. Unlike Becker muscular dystrophy , the progression with which the muscles are weakened is very rapid due to the lack of a protein known as dystrophin. The first symptoms that appear take place around 3 or 4 years of age, at which time the mobility of the bones begins to develop, and in which muscle weakness begins to be appreciated. Although there is no cure for this disease, treatments have advanced considerably in ensuring a better quality of life for patients. In this FastlyHealarticle we let you knowthe causes, symptoms and treatment of Duchenne muscular dystrophy .
Causes of Duchenne muscular dystrophy
Duchenne muscular dystrophy is a genetic disease that is passed from mother to child . The lack of a protein that has a fundamental role in the formation of muscles, known as dystrophin, is responsible for the degeneration to occur.
The disease can be transmitted without either parent showing any symptoms. This is explained because the origin of this disease occurs on the X chromosm. A boy has one X and one Y chromosome, while a girl has two X chromosomes. In the case of a boy, the father is in charge of transferring the Y chromosome, while the mother is the one who inherits the X chromosome. In the case of girls, the father transfers the X chromosome, while the mother gives him another X chromosome. In the case that the father is the carrier of the disease, he will never be able to transmit the damaged gene to the son, since he will always inherit the Y chromosome from the father, not infected. Therefore, it is always the mother who transfers the damaged gene to the child, since it will be from the mother who receives one of her two X genes. So a child will have a 50% chance of inheriting the disease. Now, if the mother can transmit the disease to her child, it is because she has the damaged gene; So why doesn’t the mother suffer from the disease? This is because women do not usually trigger the symptoms of the disease, so they may not know that they have the defective gene.
Symptoms of Duchenne muscular dystrophy
The symptoms of Duchenne muscular dystrophy appear when the child is beginning to develop his movements. It is at this time that you can begin to appreciate that the child moves clumsily or does not have adequate mobility. Muscle weakness begins in the legs and pelvis and spreads to other parts of the body such as the arms and neck. Another common symptom is the increase in the size of the calves, due to the fact that the muscle is replaced by fat, and the area is weakened. The child cannot run, jump, or perform other types of movements that require greater force on the muscles of the lower body. Around 6 years of age, scoliosis usually occurs, that is, a deformation of the spine caused by the weakness of the musculature in the spine. From the age of 10, the child usually needs a wheelchair, since he loses the ability to walk due to the development of muscle weakness. This rapid and progressive disease ends up causing respiratory failure or respiratory problems, such as pneumonia, and in some cases heart problems, so life expectancy is 25 years in most cases.
Duchenne muscular dystrophy treatment
There is currently no cure for Duchenne muscular dystrophy. Experiments have been carried out with two possible cures : the transplantation of muscle cells into the muscle to avoid dystrophy, and gene therapy, which aims to make the muscle produce the lack of dystrophin.
However, exercise is recommended within the possibilities of the patient in order to avoid obesity and other problems. Likewise, the family must learn to live with the disease and help the patient to perform stretching exercises , which can be effective in avoiding deformities and pain that affect movement.
Treatment with corticosteroids is effective during the first year and a half, in order to delay the progression of the disease, temporarily improving muscle weakness. Similarly, steroids can help reduce loss of muscle strength.
How to diagnose the disease
In case you want to know if you are a carrier of the defective gene or if the muscles are being affected, there are a series of tests that can be carried out.
- Muscle biopsy . Take a sample of the muscles to be examined in the laboratory.
- Electromyogram . It consists of measuring the electrical activity of the muscles and nerves, through electrodes placed on the muscles to be examined.
- Genetic testing . Find out if the person has the faulty gene.
- Magnetic resonance . It allows to build an image of the muscles to detect any abnormality.
This article is merely informative, at FastlyHeal .com we do not have the power to prescribe medical treatments or make any type of diagnosis. We invite you to see a doctor in the case of presenting any type of condition or discomfort.
If you want to read more articles similar to Duchenne muscular dystrophy: causes, symptoms and treatment , we recommend that you enter our Bones, Joints and Muscles category .
I am a Surgeon with a diploma in comprehensive ultrasound and surgical care residency, an area I am specializing in. During the exercise of my profession, I have realized the need for patients to know the diseases they suffer, and I can tell you that a large part of their complications is due to a lack of information. Being a health web writer allows me to transmit my experience, without borders, to all those readers eager for knowledge, educate them in the prevention of diseases and promote a healthy lifestyle.