Neurogenetics Flashcards
1
Q
What mode of inheritance is Duchenne Muscular Dystrophy?
A
X-linked recessive
2
Q
What is the characteristic sign of DMD?
A
calf hypertrophy
3
Q
What is Gower’s sign?
A
Used to identify DMD - patient will use arms to walk themselves up into standing position due to weak hip and thigh muscles.
4
Q
When is the onset of Huntingtons disease?
A
Usually between 30 and 50 years
5
Q
What is the mode of inheritance for Huntington’s disease?
A
Autosomal dominant trait
6
Q
What genes are involved in Autosomal dominant Alzheimer’s Disease?
A
APP mutations (chromosome 21) Presenilin 1 (chromosome 14) Presenilin 2 (chromosome 1)
