What is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy is a severe, progressive genetic disorder that primarily affects boys, caused by mutations in the DMD gene on the X chromosome. This gene is responsible for producing dystrophin, a protein essential for muscle fiber stability and function. Without functional dystrophin, muscles gradually weaken and degenerate. DMD follows an X-linked recessive inheritance pattern, meaning females are typically carriers while males are more likely to be affected.
Key Features
- Most common and severe form of muscular dystrophy in children
- Progressive muscle weakness that begins in early childhood
- Rapid disease progression without treatment
- Primarily affects skeletal and heart muscles
Common Symptoms
- Delayed motor milestones (e.g., walking later than usual)
- Difficulty running, jumping, or climbing stairs
- Frequent falls and trouble standing up from the floor (Gowers’ sign)
- Enlarged calf muscles (pseudohypertrophy)
- Progressive loss of mobility, often requiring a wheelchair by early teens
- Heart and respiratory muscle involvement in later stages
How to Reduce the Risk
- Carrier screening for families with a history of DMD or unexplained muscle weakness
- Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) during IVF to select embryos without the DMD mutation
- Prenatal genetic testing for early detection during pregnancy
- Genetic counseling to understand risks, inheritance patterns, and reproductive options