Pseudohypertrophic Muscular Dystrophy (also known as Duchenne Muscular Dystrophy or DMD) is a rare genetic disorder characterized by progressive muscle weakness and wasting. It primarily affects males, with symptoms usually appearing in early childhood, around the age of 3-5 years.
The term "pseudohypertrophic" refers to the deceptive muscular enlargement that occurs during the early stages of the disease, where the muscle mass increases due to fat infiltration but the muscle fibers themselves are gradually replaced by fibrous and fatty tissue. This leads to muscle weakness and loss of function over time.
DMD is caused by mutations in the dystrophin gene, which is responsible for producing a protein called dystrophin. Dystrophin is essential for maintaining the structural integrity of muscle fibers. When dystrophin is absent or insufficient, as is the case in DMD, muscle cells become vulnerable to damage and are unable to repair themselves properly.
The progressive nature of pseudohypertrophic muscular dystrophy results in difficulties with basic motor skills, such as walking and climbing stairs, as well as respiratory and cardiac complications. While there is currently no cure for DMD, various treatments and therapies, including physical therapy and corticosteroids, can help manage symptoms and improve quality of life.
DMD is an inheritable disorder, typically passed down from a carrier female to her male offspring. Genetic counseling and testing are recommended for families with a history of DMD to determine the risk of recurrence.
