Duchenne Muscular Dystrophy is a severe type of muscular dystrophy, a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by mutations in the DMD gene, which encodes the protein dystrophin. Dystrophin is crucial for maintaining the structural integrity of muscle cells.
- **Genetic Basis:** DMD is an X-linked recessive disorder, meaning it predominantly affects boys, while females are typically carriers and may exhibit milder symptoms.
- **Onset and Progression:** Symptoms usually appear between ages 2 and 5. Muscle weakness starts in the pelvic area and legs before spreading to the arms, neck, and other areas.
- **Symptoms:**
- Difficulty walking, frequent falls
- Trouble getting up from lying or sitting positions
- Enlarged calf muscles (pseudohypertrophy)
- Gait abnormalities (waddling gait)
- Progressive loss of muscle mass and strength
- **Complications:**
- Heart problems (cardiomyopathy)
- Respiratory difficulties
- Scoliosis (curvature of the spine)
- Shortened lifespan, typically into the late teens or early 20s
### Diagnosis and Management:
- **Diagnosis:** Often involves a combination of genetic testing, muscle biopsy, and blood tests (elevated creatine kinase levels).
- **Treatment:** There is no cure for DMD, but treatment focuses on managing symptoms and improving quality of life. This includes:
- Corticosteroids to slow muscle degeneration
- Physical therapy to maintain muscle function
- Use of assistive devices (e.g., wheelchairs, braces)
- Medications for heart and respiratory issues
- Surgical interventions for complications like scoliosis
Research is ongoing to find more effective treatments, including gene therapy and other novel approaches.