Duchenne Muscular Dystrophy (DMD) is a crippling disease that progressively attacks the body’s muscles, and ultimately takes boys’ lives by attacking the muscles in their heart and lungs.

Duchenne Muscular Dystrophy (DMD) is caused by mutations in the gene that encodes the protein dystrophin. Dystrophin is essential for maintaining the integrity and stability of muscle fibers. Without it, the muscle fibers become damaged and eventually die, leading to progressive muscle weakness and wasting.

The dystrophin gene is located on the X chromosome, which means that DMD is an X-linked recessive disorder. This means that the gene mutation causing DMD is carried on the X chromosome, and because boys only have one X chromosome, they are more likely to develop the condition than girls. Girls can also be carriers of the gene mutation and may have milder symptoms or no symptoms at all.

There are different types of mutations that can occur in the dystrophin gene, ranging from small changes in the DNA sequence to large deletions or duplications of entire regions of the gene. The type and location of the mutation can affect the severity of the condition, with larger deletions typically associated with more severe symptoms.

The progressive muscle weakness and wasting in DMD is caused by the loss of muscle fibers and the replacement of muscle tissue with fat and connective tissue. This leads to a gradual decline in muscle function and mobility, as well as a range of associated complications such as respiratory and cardiac problems.

Although there is currently no cure for DMD, research is ongoing to develop new treatments and therapies that can help slow or halt the progression of the condition and improve the quality of life for affected individuals.