Duchenne is a genetic disease, which means there is a mutation — or error — in one of the body's genes.
In Duchenne, the error occurs in the instructions used to make a protein called dystrophin. Dystrophin is needed by muscles in the body to protect them as they contract and relax. Children with Duchenne are unable to make the dystrophin protein, which causes their muscles to weaken over time.
A closer look at our body's instructions
Genetic mutations in Duchenne
Why mutations matter
Scientists have recorded more than 1,800 mutations in the DMD gene in people with the Duchenne and Becker forms of muscular dystrophy. Knowing and understanding your child’s mutation is a key step in considering how to manage and treat the disease.
To find out what specific mutation your child has, you will need a genetic test. With this information, you and your child’s doctor can determine how to manage Duchenne, including whether your child is a candidate for clinical trials, and/or whether there are any potential treatment options.