Duchenne’s disease

Duchenne’s disease is a congenital and hereditary form of muscular dystrophy. In this disease, the muscles do not function as they should. The disease is incurable.

What does Duchenne’s disease mean?

When someone is born with Duchenne, the muscles in the body slowly break down and become less and less strong. Small children with Duchenne cannot run well and fall very often. Around the age of ten, many patients become dependent on a wheelchair. Around the age of twenty, the muscles surrounding breathing also become weaker, causing patients to need ventilation. Unfortunately, the heart muscle also becomes increasingly weak. Good (heart) medications have recently become available, which has increased life expectancy. Unfortunately, people with Duchenne muscular dystrophy rarely live beyond the age of 40.

How is the disease caused, and what are the symptoms?

Duchenne’s disease is also called a dystrophinopathy. This is because patients’ muscles lack the so-called protein dystrophin, which prevents the muscles from functioning properly. This is a protein that is necessary for the strength of muscle cells, which cannot be made due to an error on the X chromosome. As a result, it is usually boys who have this disease. It doesn’t happen so quickly in girls. Duchenne’s disease occurs in one in 4,000 newborn boys in the Netherlands.
The first symptoms occur between the ages of eighteen months and three years. Most symptoms include: frequent falls, difficulty climbing a jungle gym or tree, late walking, and difficulty getting up from the ground or chair. Most children also have very thick calves. Around the age of four or five, children often have problems with their feet, knees and hips. Around the age of ten, muscles start to break down, causing patients to lose the ability to walk, and around the age of twelve most patients end up in a wheelchair. An electric wheelchair is often chosen, so that they can still move fairly easily. From the age of twenty, patients also experience breathing problems. Unfortunately, this continues to deteriorate, and at a certain point they end up permanently on a ventilator. Unfortunately, plenty of patients still die around the age of twenty due to respiratory problems and heart problems that are not resolved in time, but most patients with this disease die between the ages of thirty and forty. It is rare for anyone to live past the age of forty.
In some cases, missing dystrophy in the brain can lead to behavioral problems, requiring special education. But quite a few patients are just as intelligent as someone without this disease.


In most cases, prednisone is prescribed. Prednisone is a drug that is very similar to a hormone. The adrenal glands make this hormone. It is important for many bodily functions and it also helps muscle strength. The muscles become stronger and patients will notice that they can move more easily. The heart continues to work better and maintains a good function, but side effects may also occur. The extent to which patients suffer from this depends on the dose of prednisone that a patient receives. Often when the patient just starts taking prednisone, nausea and headache are common complaints. These complaints usually disappear within two weeks. Prednisone can also cause patients to gain weight, because it causes the breakdown of fats. It can also cause patients to have brittle bones and be more likely to fracture.

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