Huntington's Chorea Flashcards
1
Q
What is it?
A
Genetic condition that causes progressive deterioration of the nervous system
2
Q
Aetiology?
A
Autosomal dominant
- trinucleotide repeat disorder involving a genetic mutation in HTT gene on chromosome 4
3
Q
What is a feature seen in Huntington’s?
A
Genetic Anticipation
this is when successive generations have more repeats in the gene, causing:
- earlier disease onset
- increased disease severity
4
Q
presentation?
A
initially with mood, psychiatric and cognitive problems, this is followed by movement disorders:
- chorea
- eye movement disorders
- dysphagia
- dysarthria
5
Q
diagnosis?
A
- genetic testing for faulty gene
- FH
6
Q
Mx?
A
no treatment to slow/stop progression of disease
- supportive of person/family
- MDT apporach
- effectively breaking bad news
- genetic counselling
- speech & language therapy
- advanced directives
- end of life care planning
- symptomatic control
- suppress disordered movement
- benzos, anti psychotics, dopamine-depleting agents
- depression - antidepressants
- suppress disordered movement
7
Q
Prognosis?
A
- people tend to live 15-20 years after symptom onset
- death often due to respiratory illness
