what is Duchenne Muscular Dystrophy (DMD)?

Duchenne Muscular Dystrophy (DMD) is a heartbreaking disease. Children begin to see their muscles waste away and families struggle to cope with the diagnosis and day to day management of this condition. Young men die early in late teens or are left wheelchair bound and unable to move unaided.  Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births. Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.

Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin.  Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young boys lose the ability to walk between the ages of 9-12 and mortality is typically late teens/early twenties.

Duchenne can be passed from parent to child, but approximately 35% of cases occur because of a random spontaneous mutation (in Logans case it has been a spontaneous mutation). In other words, it can affect anyone. Although there are medical treatments (steroids and physiotherapy) that may help slow its progression, there is currently no cure for Duchenne.  The hope for families lies in new treatments that can slow or stop DMD in its tracks.

Action Duchenne is a UK company and charity that was set up in the UK by parents, family members & supporters of young people with DMD who demanded that a cure or viable long-term treatment is found.

The charity seeks to promote new research & clinical trials and also maintains the DMD registry - a UK national register of people with DMD which is used to match trials with people.

For further details:

Action Duchenne www.actionduchenne.org DMD Registry www.dmdregistry.org or Parent Project MD in the US or Duchenne Foundation in Australia