huntington's chorea Flashcards
1
Q
inheritance
A
autosomal dominant
2
Q
what
A
progerssive deterioration in nervous symtpoms
3
Q
when do symptoms usually begin
A
~ 30-50yrs
4
Q
what type of disorder
A
trinucleotide repeat disorder
5
Q
genetic mutation of
A
HTT gene
on chromosome 4
6
Q
anticipation
A
feature of trinucleotide repeat disorders
successive generations have more repeats
- earlier age onset
- inc disease severity
7
Q
presentation
A
insidious progressive worseing of symptoms
starts with cognitive, psychiatric or mood problems
followed by movement disorders
- chorea
- eye movement disorders
- dysarthria
- dysphagia
8
Q
Mx - general
A
SALT
genetic counselling
advanced directives
end of life care
9
Q
Mx - medications that can suppress movement disorders
A
- antipsychotics e.g. olanzapine
- benzodiazepoiens
- dompamine-depleting agents e.g. tetrebenazine
10
Q
prognosis
A
life expectant 15-20yrs after symptom onset
