About Duchenne

Duchenne Muscular Dystrophy is an aggressive form of Muscular Dystrophy that affects 1 in every 3,500 boys born.

It also affects girls who account for 1% of all those diagnosed. It is caused by a mutation in the genes, and boys are lacking a protein called dystrophin, which is essential to the proper functioning of our muscles. Without dystrophin, muscles are not able to function or repair themselves properly. The loss of muscle then results in a loss of strength and function.

Duchenne can be passed from parent to child, or it can be the result of random spontaneous genetic mutations, which may occur during any pregnancy. In fact, about one out of every three cases occurs in families with no previous history of Duchenne.

It can affect anyone and crosses all races and cultures. The average age a child is diagnosed with Duchenne is around 4 years old. Many times, there will be delays in early developmental milestones such as sitting, walking, and/or talking. Speech delay and/or the inability to keep up with peers will often be the first signs of the condition.

Duchenne progresses differently for every person. Even siblings with the same mutation may have a very different progression of symptoms. Muscle loss is first noticed in childhood, with loss of strength, function, and flexibility in the hips, thighs, shoulders, and pelvis. In teens these losses begin progressing to the arms, lower legs, and trunk. Because there is also an absence of dystrophin in the muscles of the heart and lungs, heart function and breathing are also affected. Some people can have issues with learning and behaviour resulting from a lack of dystrophin in the brain.

The progression of symptoms through Duchenne are on a spectrum from late onset/very mild symptoms to early onset/severe symptoms. Regular visits with a neuromuscular team help to monitor the progression of disease and how it can best be treated along the way. With improved care more people with Duchenne are living into their 20s and 30s. With clinical care continuing to improve, as well as clinical trials, research, and therapies on the horizon, we are hoping to enhance the quality of life and extend the lives of those affected.

Duchenne in numbers

  • 1 of the most serious genetic diseases in children.
  • 1 in every 3,500 boys born will have Duchenne.
  • 2,500 boys affected in the UK.
  • 300,000 boys affected worldwide.
  • 2 families per week receive diagnosis in the UK.
  • 90% of boys will require the use of a wheelchair by the age of 12.

Stages of Duchenne

  • Age 3-5 – diagnosis and trouble keeping up with peers.
  • Age 6-9 – muscles begin to deteriorate.
  • Age 9-13 – progressive muscle loss and wheelchair dependent.
  • Age 13+ – heart and respiratory complications.
  • Age 19+ – Ventilation dependent and 24-hour care.