Huntingtons Flashcards

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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

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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

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3
Q

Ix and Mx of Huntingtons

A

Ix - genetic analysis for HTT gene

mx -none :)

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