Dyskinetic Movement Disorders Flashcards
What is an essential tremor?
Tremor not associated with neuro disease
Enhanced on maintaining postures of holding arms out
What exacerbates essential tremor?
Anxiety
What may improve essential tremor?
Alcohol
How is essential tremor investigated?
CT
How is disabling essential tremor managed?
Beta-blockers
Topiramate
Gabapentin
How is Huntingtons disease inherited?
AD
Where is the Hungtingtin gene located?
Chromosome 4
How many CAG repeats indicate Huntington’s?
> 36
How does Huntington’s disease present?
Chorea
Subtle personality change - irritable, aggressive, loss of interest
How is Huntington’s disease investigated?
MRI (showing atrophy of head of caudate)
Genetic testing
How is Huntington’s treated?
Tetrabenazine for hyerkinesias
What is Wilson’s disease?
Build up of copper leading to hepatocellular degeneration and other organ damage
How is Wilson’s disease inherited?
AR
Where is the mutation in Wilson’s disease?
ATP7B gene on chromosome 13
What enzyme is affected in Wilson’s disease?
Caeruloplasmin