Duchenne Muscular Dystrophy (DMD)

1. Description

   Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects males, usually appearing in early childhood.

2. Cause

   DMD is caused by a mutation in the dystrophin gene, which is responsible for creating a protein called dystrophin. The absence or deficiency of this protein leads to muscle cell damage and ultimately results in muscle wasting.

3. Symptoms

   The main symptoms of DMD include delayed motor milestones, difficulty in walking, frequent falls, progressive muscle weakness, enlarged calf muscles, and problems with heart and lung functions.

4. Prognosis

   DMD is a progressive disorder with no known cure. It severely affects muscle strength and mobility, ultimately leading to the loss of ambulation. Patients with DMD typically have a reduced lifespan, often succumbing to complications such as respiratory or heart failure in their late teens or early twenties.

5. Treatment

   While there is currently no cure for DMD, various interventions can help manage the symptoms and improve the quality of life for individuals with the condition. These may include physical therapy, medications to slow down disease progression, assistive devices, and supportive care.