What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy is a muscle-weakening condition which, over time, leads to progressive disability.
The condition generally affects boys and develops between the ages of one and three.
Symptoms of Duchenne muscular dystrophy include:
Muscle weakness in the legs and upper arms (this can range from mild to severe)
Thinning of the muscles
Tightness of joints
Delayed development in a child (with the condition). For example: the child may not begin to walk at the same age as other children their age, but later.
Heart problems (in some, but not all cases)
Muscle aches and pains
Gradual curvature of the spine
Duchenne muscular dystrophy is caused by having a faulty gene. This can be an inherited condition (i.e the gene abnormality is already in the family and has been passed down). However, not all people with Duchenne muscular dystrophy develop the condition due to having a genetic predisposition. Often, the gene abnormality will be only particular to them within a family.
With Duchenne muscular dystrophy, the affected individual's muscle fibres fail to work because the human gene which controls the protein responsible for muscle fibre creation/functionality is faulty in some way. This then causes the aforementioned symptoms to develop.
To attain a confirmed diagnosis of Duchenne muscular dystrophy, a blood test will be carried out. Also, a sample of muscle tissue may be removed for testing (this is called a biopsy). Where these tests prove inconclusive, your child may be referred to your local hospital for further tests (an MRI scan, CT scan and/or a chest X-Ray).
Effect on your life
Children with Duchenne muscular dystrophy will usually need the aid of a wheelchair from the age of twelve. Prior to this they will have difficulty standing, walking and climbing stairs.