Understanding the science of Duchenne
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
The mRNA shown below comes from the dystrophin gene, and contains 79 exons that are linked together to form the instructions for making dystrophin protein. Researchers have discovered that mutations, or errors, in the dystrophin gene alter the instructions for making dystrophin.
needed in muscles
The most common mutation in people with Duchenne is a deletion of one or more exons. Much like a puzzle, these missing pieces prevent the remaining exons from fitting together properly.
Exon deletion (missing exon)
This causes errors in the instructions for making dystrophin, and the body is not able to produce a working dystrophin protein.
When exons do not fit together
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.