Progeria Flashcards
1
Q
What is progeria ?
How common is it ?
A
- Premature aging
- Extremely rare
2
Q
What causes progeria ?
A
Caused by novel mutation in the Lamin A defect (LMNA)
unstable nuclear envelope, leading to premature cell death. LMNA mutations also involved in muscular dystrophy
3
Q
What are symptoms of progeria ?
A
MSK defects associated with aging
Lack of muscle mass, strength, tone and power
Hip dislocation
