Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy (DMD) is a genetic disorder that primarily affects boys and leads to progressive muscle weakness and loss. It's caused by mutations in the dystrophin gene, which is essential for muscle health. Symptoms usually appear in early childhood, including difficulties in walking, running, and climbing stairs. As the disease progresses, muscle degeneration spreads, ultimately affecting the heart and lungs. While there is no cure, physical therapy, medications, and supportive care can help manage symptoms and improve quality of life. Research continues into gene therapies and potential treatments to halt or reverse the condition.
Additional Insights
-
Duchenne muscular dystrophy (DMD) is a genetic disorder that primarily affects boys, causing progressive muscle weakness and degeneration. It results from a mutation in the gene responsible for producing dystrophin, a protein that helps keep muscle cells intact. Symptoms usually appear between the ages of 2 and 5, leading to difficulties in walking, standing, and performing daily activities. As the condition progresses, it can affect the heart and respiratory muscles. While there's currently no cure, treatments aim to manage symptoms and improve quality of life, with ongoing research focused on gene therapy and other potential interventions.