Duchennea

Duchenne is a rare, severe, and progressive form of muscular dystrophy. It is a genetic disorder that primarily affects boys, although it can occur in girls in rare instances. Duchenne muscular dystrophy is caused by mutations in the DMD gene, which is located on the X chromosome. This gene provides instructions for making a protein called dystrophin, which is crucial for the strength and proper functioning of muscles. A lack of functional dystrophin leads to progressive muscle degeneration and weakness.

Symptoms typically begin to appear in early childhood, usually between the ages of 3 and 6. Early signs can include delayed motor milestones such as learning to walk, difficulty running or jumping, frequent falls, and toe-walking. As the disease progresses, muscle weakness spreads to other parts of the body, affecting the legs, arms, and trunk. This can lead to difficulties with mobility, eventually requiring the use of a wheelchair.

Over time, Duchenne muscular dystrophy can also affect the heart and respiratory muscles, leading to serious complications. There is currently no cure for Duchenne muscular dystrophy, but treatments focus on managing symptoms and improving quality of life. These may include physical therapy, occupational therapy, medications to help manage muscle weakness and heart problems, and respiratory support. Genetic counseling is also important for families affected by this condition.