Huntingtons Flashcards
1
Q
What is Huntington’s disease?
A
A progressive, inherited neurodegenerative condition
2
Q
What causes Huntington’s disease?
A
- Autosomal dominant: trinucleotide repeat disorder
- Results in degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia
- Defect in huntingtin gene on chromosome 4
- Anticipation: successive generations have more repeats so disease presents earlier and is more severe
3
Q
How does Huntingtons present?
A
- Usually develops after 30-50 years age
- Chorea (involuntary movements)
- Personality changes
- Dystonia (abnormal muscle tone)
- Rigidity
- Dysarthria
- Dysphagia
- Rapid shifting eye movements
4
Q
How is Huntington’s managed?
A
- Genetic testing
- No treatment available
- Supportive measures
- Death is usually caused by aspiration pneumonia/suicide
