Duchenne often becomes noticeable at the stage that children begin to move around more. Boys usually reach physical milestones like crawling or walking later. Getting up from the floor or from lying down may be difficult -- they may resort to supporting themselves with their hands and thighs to stand upright (sometimes called Gowers' sign). They may walk more on their toes than other children. They may appear clumsy, fall more often, and have problems with climbing, jumping or running. There may be slower speech development. They may appear more tired than other boys.
The effects of the disease are first seen in the leg muscles. Calf muscles may appear to be enlarged or swollen. This is called pseudohypertrophy. Damaged muscle cells are replaced by fat and scar tissue which is called fibrosis.
Learning or behavioural difficulties may appear at this stage. These will range from none at all, to very slight, to more significant. These usually remains static and do not increase as the disease progresses.
THINGS TO CONSIDER:
- a test to identify the specific genetic mutation to help choose treatment options and trials
- diet and weight checks
- start cortico- to promote muscle strength
- choosing the right schools to support your child's needs
- emotional support for the parents
- advice on explaining the diagnosis to friends and family
Published on 27 April 2016Share this article Categories Uncategorised