Huntington's Disease

Question 1

What is the transmission of HD?

Answer 1

Autosomal dominant transmission of CAG repeats - >40 will develop the disease

Question 2

What medications are used in HD?

Answer 2

Tetrabenazine
Anti-psychotics
- For reduction in the chorea, don’t affect progression

Treat other symptoms with appropriate therapy ie depression with anti-depressants

Question 3

What is bruxism?

Answer 3

Abnormal clenching or grinding of teeth

Question 4

How is HD diagnosed?

Answer 4

A chorea in the setting of a family hx is highly suspicious

Genetic testing for >40 CAG repeats

Question 5

What are the clinical features of HD?

Answer 5

Neurological: Chorea, gait abnormalities, dystonia, dysphagia, oculomotor abnormalities, rigidity, bradykinesia, myoclonus

Behaviour: Behavioural change, cognitive disturbance

Psychological: Depression, anxiety, and psychosis

Question 6

What is the physiology of HD?

Answer 6

Striatal atrophy due to aberrant huntington protein produced by its gene on chromosome 4