Duschenne Muscular Dystrophy Flashcards
1
Q
What is Duschennes
A
X linked Recessive mutation of Dystrophin gene
Affects only boys
2
Q
What is the pathology of Duschennes
A
Muscle replaced by adipose tissue
3
Q
What are the presentations of Duschennes
A
Gower’s Sign (Cant get up from laying)
Scoliosis
Scoliosis
4
Q
How is Duschennes Investigated
A
Prenatal and DNA tests
DNA genetic test
5
Q
How is Duschenne managed
A
Supportive therapy
6
Q
What is gower’s sign
A
cant get up from laying down