Duchenne’s disease (muscular dystrophy): symptoms, treatment

Muscular dystrophy represents a group of hereditary progressive muscle diseases that manifest themselves in progressive paralysis and muscle atrophy. Duchenne’s disease is the best-known form of muscular dystrophy and occurs almost exclusively in boys. In the Netherlands, six hundred boys have Duchenne muscular dystrophy. Because the heart muscle becomes increasingly weak, Duchenne is ultimately a fatal disease. Research into the disease is very important, Duchene Heroes contributes to research.

Article content

  • Muscular dystrophy
  • Duchenne’s disease
  • Causes of Duchenne’s disease and Becker’s disease
  • Symptoms of Duchenne muscular dystrophy
  • Complications of Duchenne’s disease
  • Diagnosis of Duchenne muscular dystrophy
  • Treatment of Duchenne’s disease
  • Prognosis of Duchenne’s disease and Becker’s disease
  • Research
  • Duchenne Heroes


Muscular dystrophy

Muscular dystrophy involves disorders of the muscles that are hereditary. The muscles become increasingly weak and break down. The best-known form of muscular dystrophy is Duchenne’s disease (approximately one in four thousand boys), followed by Becker’s disease (approximately one in twenty-five thousand boys). In Becker’s disease the process proceeds more slowly and the symptoms appear later in childhood or when a person is already an adult.

Duchenne’s disease

If you are born with Duchenne muscular dystrophy, your muscles slowly break down and you become less and less strong. Small children who have the disease often fall and cannot run well. When walking is no longer possible (usually around the age of ten to twelve), they become dependent on a wheelchair. Ventilation is necessary if the muscles required for breathing become too weak. But the heart muscle also becomes weaker and this makes Duchenne’s disease a fatal disease.

Causes of Duchenne’s disease and Becker’s disease

Duchenne is hereditary and is transmitted via a gene on the mother’s side . Both Duchenne and Becker muscular dystrophy are due to an abnormal gene on the x chromosome . A girl can have the abnormal gene but usually does not get the disease because a girl has two X chromosomes. The normal X chromosome provides compensation. The gene in question usually ensures the production of dystrophin, this protein is necessary for good muscles. If the gene has an abnormality, such as with Duchenne (and Becker), then there is too little of the protein and this leads to muscle damage. In Duchenne , virtually no dystrophin is produced, but in Becker’s disease there is.

Symptoms of Duchenne muscular dystrophy

You often see the symptoms in the period when a child should start walking.

  • Start walking late;
  • More falls than other children;
  • Getting up from the ground can cause problems;
  • The calf muscles are large;
  • Muscles in the upper part of the arms are not well developed;
  • Muscles in the upper part of the legs are not well developed;
  • A staggering walk;
  • Climbing stairs can be difficult;
  • Minor problems with learning.

The symptoms are progressive, around the age of 12 a child is often no longer able to walk. In Becker’s disease, the symptoms are the same, but they only appear later, around the age of eleven or later. Becker also continues to walk well for a longer period of time; many are still able to walk until the age of thirty or later.

Complications of Duchenne’s disease

  • The heart muscle can become weaker and therefore become extra large;
  • Breathing problems may occur;
  • Scoliosis can develop: an abnormal sideways curvature of the spine;
  • There is a greater risk of respiratory infections and these can ultimately be fatal.


Diagnosis of Duchenne muscular dystrophy

People often think of the disease when there are already clear symptoms. Blood tests can be used to determine whether the muscles are affected. Electromyography can be done to see how the nerves and muscles are doing. Tissue from the muscles can be viewed and the heart can be examined using an ECG and an ultrasound. An error in the gene can be detected in two-thirds of boys by examining the DNA. If DNA testing is done on a pregnant woman and it turns out that she is a carrier, the child can be tested for the disease before birth.

Treatment of Duchenne’s disease

  • It is very important that a child remains mobile and active.
  • Physiotherapy can help keep the arms and legs mobile.
  • The legs may need support: leg supports.
  • Sometimes a wheelchair is necessary.
  • If the sideways curvature is severe, surgery can be performed to restore the straightest possible position to the back.
  • Receiving the diagnosis is quite a big deal, both for the child and for the parents, and psychological support is often required.


Prognosis of Duchenne’s disease and Becker’s disease

A child with Duchenne can learn to toilet train, but also cycle and swim, for example, in the initial phase of the disease, but adjustments are usually required. A child can go to a mytyl school, but regular education can also be feasible. It is difficult to say how long someone will live with Duchenne, but it is a progressive disease in which the complaints become more and more serious. Problems with breathing and heart can lead to a shorter life. Without breathing assistance and heart medications, someone with Duchenne usually will not survive into adulthood. But if it is chosen, life expectancy is longer. Nowadays, fifty percent of people with Duchenne live to be over thirty years old , but it can vary greatly. With Becker’s disease the prospects are better ; someone with this disease can live to be forty years or older.


Research is very important. One of the new approaches is gene therapy, aimed at introducing a healthy dystrophin gene. The introduction of cells that can produce dystrophin is being investigated. Work is also being done on the exon skipping method. This involves trying to skip exons (disruptive parts) of the gene, so that some dystrophin is still produced. The course of the disease could then possibly be comparable to Becker’s disease. So a lot of research is being done, but it may take some time before there is an effective treatment.

Duchenne Heroes

Duchenne Heroes is a seven-day mountain bike tour that takes place from Luxembourg to the Netherlands. One hundred kilometers are covered every day. The goal is to raise as much money as possible for research into Duchenne muscular dystrophy .

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