Duchenne Muscular Dystrophy (DMD) is a rare hereditary condition marked by progressive muscular deterioration and weakening. DMD is named after French neurologist Guillaume Duchenne, who originally reported the disorder in the 1860s. It is caused by a mutation in the dystrophin gene on the X chromosome and mostly affects boys...
Duchenne Muscular Dystrophy (DMD) is a rare hereditary condition marked by progressive muscular deterioration and weakening. DMD is named after French neurologist Guillaume Duchenne, who originally reported the disorder in the 1860s. It is caused by a mutation in the dystrophin gene on the X chromosome and mostly affects boys. Dystrophin is a protein that helps muscle fibers stay intact and perform properly. In those with DMD, the defective gene causes dystrophin to be ineffective or insufficiently produced. This deficit causes slow degradation of muscular tissue, resulting in a loss of muscle strength and function. Duchenne Muscular Dystrophy normally develops in early childhood, with symptoms appearing between the ages of 3 and 5. Children with DMD may experience delayed motor milestones, such as difficulty walking and running, as well as frequent falls. As the illness worsens, muscle weakness becomes more severe, affecting the proximal muscles initially and then extending to other muscle groups. The Gower's sign is a defining symptom of DMD, in which affected persons use their hands and arms to "walk" up their own body from a crouching position due to weak hip and thigh muscles. Additionally, people with DMD may acquire a waddling gait and have trouble mounting stairs. Aside from muscle-related symptoms, DMD can affect the respiratory and cardiac systems. Respiratory muscles deteriorate over time, resulting in respiratory difficulties. Cardiac involvement is also prevalent, and the risk of cardiomyopathy and heart failure rises as people with DMD age. Despite being a severe disorder, advances in medical research and care have improved the quality of life and life expectancy of those with DMD. Corticosteroids may be used to halt muscle deterioration, physical therapy to maintain mobility, and therapies to treat respiratory and cardiac problems. Research into gene therapy and other novel techniques is ongoing, with the intention of developing more effective treatments and even solutions for Duchenne Muscular Dystrophy in the future.
- Duchenne Muscular Dystrophy – A genetic disorder affecting muscles, similar to Duodenal Ulcer.
