Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by the progressive degeneration of muscles. It primarily affects males and usually becomes evident in early childhood.
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It primarily affects males and usually becomes evident in early childhood. The condition is caused by a mutation in the dystrophin gene located on the X chromosome. This mutation leads to the absence or reduction of the dystrophin protein, which is crucial for maintaining muscle integrity. As a result, individuals with DMD experience muscle weakness and wasting, leading to difficulties in walking, standing, and eventually breathing. DMD typically follows a predictable pattern of muscle degeneration, starting from the proximal muscles and gradually spreading to distal muscles. This progression leads to a loss of mobility and can cause significant disability. In addition to muscle weakness, individuals with DMD may also experience other medical complications, including heart problems, respiratory issues, and learning difficulties. There is currently no cure for DMD, but various treatments and supportive therapies can help manage symptoms and improve quality of life. These interventions include physical therapy, steroid medications, assistive devices, and respiratory support. Research efforts are ongoing to develop targeted therapies and gene-based treatments that could potentially modify the course of the disease. Duchenne Muscular Dystrophy is named after the French neurologist Guillaume Duchenne, who first described the condition in the 19th century. The disorder is relatively rare, affecting approximately 1 in every 3,500 to 5,000 male births worldwide. However, it significantly impacts the lives of affected individuals and their families, necessitating comprehensive care and support.