What is dystrophinopathy?

Dystrophinopathy is a group of genetic disorders caused by mutations in the DMD gene, which encodes the protein dystrophin. Dystrophin is a large protein that is found in the muscles. It helps to connect the muscles to the bones and provides strength and stability. When dystrophin is missing or defective, the muscles can become weak and damaged.

Dystrophinopathy can affect people of all ages, but it is most common in boys. The symptoms of dystrophinopathy can vary depending on the severity of the mutation. Some people may have only mild symptoms, while others may have severe muscle weakness and difficulty walking.

There is no cure for dystrophinopathy, but there are treatments that can help to improve muscle strength and function. These treatments include physical therapy, occupational therapy, and medication.

The prognosis for people with dystrophinopathy varies depending on the severity of the mutation. Some people may be able to live full and active lives, while others may need assistance with daily activities.