Pseudohypertrophic Childhood Muscular Dystrophy, also known as Duchenne Muscular Dystrophy (DMD), is a genetic disorder characterized by progressive muscle weakness and wasting. It is one of the most severe forms of muscular dystrophy, primarily affecting males.
This condition is caused by a mutation in the dystrophin gene located on the X chromosome. The absence or deficiency of dystrophin, a protein required for normal muscle function, leads to the degeneration and replacement of muscle tissue with fat and fibrotic tissue. As a result, affected individuals often develop pseudohypertrophy of the calf muscles, giving the false appearance of increased muscle size.
Symptoms of pseudohypertrophic childhood muscular dystrophy typically manifest in early childhood, typically between the ages of 3 and 5. Initial signs may include delayed motor milestones, difficulty in climbing stairs, frequent falls, and enlargement of the calves. As the disease progresses, muscle weakness spreads to other parts of the body, leading to loss of ambulation by adolescence. Serious complications may arise, including respiratory and cardiac issues due to the involvement of muscles responsible for breathing and heart function.
Currently, there is no cure for pseudohypertrophic childhood muscular dystrophy. Treatment mainly focuses on managing symptoms and improving the quality of life. This includes physical and occupational therapy, the use of assistive devices, respiratory support, and medications targeted at symptom management.
Early diagnosis and intervention can significantly improve outcomes and help manage the progression of the disease. Genetic counseling is recommended for families at risk or with a history of pseudohypertrophic childhood muscular dystrophy.
