Huntingtons Flashcards
1
Q
Define, aetiology and RF of huntingtons
A
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
2
Q
Sx of huntingtons
A
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
3
Q
Ix and Mx of Huntingtons
A
Ix - genetic analysis for HTT gene
mx -none :)