Duchenne Muscular Dystrophy (DMD) is a progressive, muscle wasting, genetic condition affecting mainly boys although a small number of girls also have DMD. It is caused by an error in the gene which creates an important muscle protein called dystrophin. Without dystrophin, muscle cells become weaker and eventually stop working.
Most children with DMD appear physically normal at birth, but show signs of muscle weakness by about three to four years of age. Running, hopping, jumping and climbing become difficult and it becomes harder to walk as more muscle cells are lost.
Children usually lose the ability to walk and begin to use a powered wheelchair between the ages of nine and twelve. Some, but not all, children with Duchenne also have learning difficulties or autism. Everyone with DMD is an individual, so the condition will not progress at the same rate for all children.
At present there is, unfortunately, no cure for DMD. However, research into treatments and cures is making good progress. Very importantly, the quality of life and lifespan of people with Duchenne are both improving all the time.
NEWLY DIAGNOSED FAMILIES
To find out more about Duchenne, please contact Sue Berry at info@dfsg.org.uk, who can send you information and more details about the support that the DFSG offers. Muscular Dystrophy UK and Duchenne UK have also produced resources that you may find useful.
If you are a newly diagnosed family, please do get in contact.
LIVING WITH DUCHENNE
There is a lot that you can do to help your family member with DMD to have an enjoyable and fulfilling life. There is no reason why having DMD should be a barrier to getting an education, enjoying playing sport, living independently or finding gainful employment.
However, the condition can also place families under emotional, practical and financial strain. You will need plenty of good quality information and support.
We have made a list of useful organisations that can provide information about the condition, treatments, equipment, research, benefits and your rights. If you need to raise funds for equipment, here are some tips.
The DFSG complements the above organisations by giving you emotional support, positive experiences and helping you to build friendship networks. We believe that nobody should be defined by Duchenne and that everyone deserves a good quality of life.
