Huntington's Disease Flashcards
Define
Autosomal dominant neurogenerative disorder
Epidemiology
Presents midlife but can occur at any age
M=F
Symptoms
Cognitive decline
Loss of coordination
Personality change
Jerky rhythmic movements
What is the classic sign for Huntington’s?
Chorea
Pathophysiology
CAG repeat of the huntingtin gene
Aetiology
Genetics
FM
What is often the earliest symptom of Huntington’s?
Concentration impairment (performance at work or school may be impaired)
Task apathy and anxiety
Increased errors in complex functions
Assumption of responsibilities by colleagues or family members
Slips, misjudgements, or motor vehicle accidents.
What things come under ‘personality change’?
Irritability Impulsivity Loss of enthusiasm Disinhibition Depression Obsessions Compulsions
Investigations
None initially (diagnosis is clinical) CAG repeat testing (>40 repeats implies Huntginton's MRI
What is the normal result for CAG testing?
28 or less
What CAG repeat result would confirm a Huntington diagnosis?
> 40 repeats
What CAG repeat result would mean a patient may not develop Huntington in their lifetime?
36-39 means patient may not develop it during their lifetime
How useful is an MRI and what could it show?
Caudate or striatal atrophy
Not specific or diagnostic
Prognosis
Depression usually improves with antidepressants, however the other symptoms are progressive.
