Huntington's Disease Flashcards
1
Q
What is Huntington’s?
A
An autosomal dominant disorder with more than 38 CAG trinucleotide repeats in the gene encoding for the huntingtin protein
2
Q
What is the triad of Huntington’s features?
A
Choreoathetosis
Dominant inheritance
Dementia
3
Q
What is choreoathetosis?
A
Uncontrollable movements of the arms and legs
4
Q
What other features can be seen in Huntington’s?
A
Saccadic eye movements
Personality changes
Dystonia - muscle spasms and contractions
5
Q
What investigations can be performed to diagnose Huntington’s?
A
MRI
CT
Genetic testing - gold standard
6
Q
What is the most effective medication to control chorea?
A
Tetrabenazine
7
Q
What are the typical MRI findings in Huntington’s?
A
Atrophy of the caudate nucleus and putamen
