Dechene Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a severe, progressive neuromuscular disorder that primarily affects boys. It is caused by mutations in the DMD gene, which leads to a deficiency of dystrophin, a protein essential for muscle function.
Key Features of DMD:
Genetic Cause: X-linked recessive inheritance (mostly affects males, while females can be carriers).
Symptoms: Muscle weakness begins in early childhood (around ages 2-5), affecting the legs first and later spreading to the arms and torso.
Progression: Loss of ambulation typically occurs by the early teenage years, followed by respiratory and cardiac complications.
Diagnosis: Confirmed through genetic testing, muscle biopsy, and creatine kinase (CK) blood tests.
Management: There is no cure, but corticosteroids, physical therapy, assisted ventilation, and cardiac care help manage symptoms and prolong mobility and life expectancy.
Current Research & Treatment Approaches:
Gene Therapy: Trials are exploring the potential of micro-dystrophin gene therapy.
Exon Skipping Therapy: Drugs like eteplirsen (for specific mutations) help produce partially functional dystrophin.
Stem Cell Research: Investigating the potential for muscle regeneration.
Life expectancy has improved due to advancements in cardiac and respiratory care, with many individuals living into their 30s or beyond with proper medical support.
Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the absence of dystrophin, a protein that helps keep muscle cells intact. Common visual representations of DMD might include:
1. Muscle Atrophy: Images may show weakened or atrophied muscles, particularly in the legs, arms, and torso.
2. Gower's Sign: A clinical sign where individuals use their hands to push themselves up from the floor due to weak thigh muscles.
3. Calf Pseudohypertrophy: Enlarged calf muscles due to fatty infiltration, despite muscle weakness.
4. Wheelchair Use: Many individuals with DMD rely on wheelchairs as the condition progresses.
5. Spinal Deformities: Scoliosis or other spinal curvature may be visible in advanced stages.
