Huntingtons

Question 1

Define, aetiology and RF of huntingtons

Answer 1

autosomal dominant (50% inheritance)-abnormal Hintingitin gene
-trinucleotide expansion disorder---genetic anticpitation -more repeats in later generations-more severe and earlier onset)-feature of all trinucleotide disorder eg-fragile X

onset 30-50

Question 2

Sx of huntingtons

Answer 2

clumsy/spreech difficulties onset 30/50y/o

Movement - chorea, speech/swallow. stulmbling, clumsy
Cognitive-organising tast, flexible, impulse control, learning, concentrating
Psychiatric - depression, irritability/mood swings, suicide, personality changes

chorea- invonluntary jerking or fidgety movements that tend to flow from 1 area to other
Lack of insight -dont care things are wrong

Question 3

Ix and Mx of Huntingtons

Answer 3

Ix - genetic analysis for HTT gene

mx -none :)