Huntington’s Disease Flashcards
1
Q
Inheritance pattern
A
Autosomal dominant
2
Q
Features of Huntingtons disease
A
Asymptomatic until 30 - 50 years old
Progressive worsening
3
Q
Genetic abnormality of Huntingtons disease
A
Trinuecleotide repeat disorder that involves the mutation of the HTT gene on chromosome 4
4
Q
Genetic anticipation
A
Successive generations have more repeats in the gene resulting in:
- earlier age of onset
- increased severity of disease
5
Q
Presentation of Huntingtons disease
A
Chorea
Eye movement disorder
Dysarthria
Dysphagia
6
Q
Chorea
A
Involuntary abnormal movements
7
Q
How is Huntington’s disease diagnosed?
A
Genetic testing
8
Q
Management of Huntington’s disease
A
MDT Speech and language therapy Genetic counselling Advanced directives End of life care planning
Symptomatic relief:
- Antipsychotics- olanzapine
- benzodiazepines - diazepam
- dopamine depleting agents - tetrabenazine
9
Q
Prognosis of Huntington’s disease
A
15 - 20 years after the onset of symptoms
