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
How does Wilson’s disease present?
Dystonia Parkinsonism Tremor Seizure KF rings
What do investigations show in Wilson’s disease?
LFTs abnormal Serum copper increase Caeruloplasmin conc decrease Increased urinary copper excretion Copper on liver biospy
What does MRI show in Wilson’s disease?
Hyperintense putamen
How is Wilson’s disease managed?
D-penicillamine
Zinc
Liver transplant
How does D-penicillamine work in Wilson’s disease?
Copper chelating agent
How does Zinc work in the treatment of Wilson’s disease?
Competes with copper for absorption
What is Syndenham’s chorea?
Unilaterla, post-infective chorea
How is Sydenham’s chorea treated?
It should settle spontaneously
What is Gilles de la Tourette’s syndrome?
Syndrome causing multiple involuntary motor and vocal tics
How is Gilles de la Tourette’s syndrome treated?
Clonidine or haloperidol
What is Gilles de la Tourette’s associated with?
OCD
ADHD