Huntington's Disease Flashcards
1
Q
Huntington’s Disease Genotype
A
Autosomal dominant disorder
Mutation found on chromosome 4p16
2
Q
Most common presenting symptoms
A
Chorea
3
Q
CAG trinucleotide
A
Repeats 36-120 times in Huntington’s
4
Q
HD most prevalent
A
- White people of northwestern European ancestry
- Most cases are inherited
- Sex of the affected parent exerts a strong influence
5
Q
Onset of symptoms
A
Between 30-50 years of age
Men usually have earlier presentation
6
Q
Earliest changes of HD
A
Behavioral: irritability, moodiness, antisocial behavior, psychiatric disturbance, mild dyskinesia
7
Q
Later signs and symptoms of HD
A
Choreiform movements
Dystonia posturing
Severe balancing and coordination problems
Progressive dementia
8
Q
Juvenile onset
A
Faster progression of disease (10-15 years)
Death usually results from extrinsic accident or disease
9
Q
HD is
A
Neurodegenerative
