Huntington's disease Flashcards
What is Huntington’s disease
autosomal dominant condition that causes progressive neurological dysfunction
What are the genetics of Huntington’s disease
- autosomal dominant
- trinucleotide repeat disorder in HTT gene on chromosome 4
- genetic anticipation
What is genetic anticipation
- feature of trinucleotide repeats disorder
- where successive generations have more repeats in the disease resulting in earlier onset of disease and increased severity of disease
What is the initial presentation of Huntingtons disease
cognitive, psychiatric or mood problems followed by movement disorders
What are the movement disorders in Huntingtons
- chorea
- dystonia
- rigidity
- eye movement disorders
- dysarthria
- dysphagia
What is chorea
involuntary, random, irregular and abnormal body movements
How is a diagnosis of Huntingtons disease made
genetic testing
What is the treatment of huntingtons disease
no treatment for disease progression
- genetic counselling
- physiotherapy
- SALT
- tetrabenoine for chorea symptoms
- antidepressants
What is the prognosis for a patient with Huntingtons disease
- 10-20 years survival from onset of symptoms
- death often due to aspiration pneumonia or suicide
What does an MRI of someone with huntingtons disease show
Atrophy of caudate nucleus and putamen
