Huntington's

Question 1

what is it?

Answer 1

autosomal dominant disease characterised by progressive Chorea and Dementia, typically commencing in middle age

trinucleotide repeats - CAG

Basal ganglia in brain is affected

Earlier age of onset with each successive generation

Question 2

symptoms in early stages? later stages?

Answer 2

Progressive
Fidgeting
Clumsiness
Involuntary, jerky, dyskinetic movements often accompanied by grunting and dysarthria

EARLY COGNITIVE CHANGES: 
Lability - constant change 
Dysphoria (a state of unease or generalised dissatisfaction with life)  
Mental inflexibility 
Anxiety 
Develops into dementia  

LATER STAGES:
Rigid
Akinetic
Bed-bound

Enquire about drug history (especially cocaine and anti-psychotics)

Question 3

signs?

Answer 3

Chorea  
Dysarthria  
Slow voluntary saccades 
Parkinsonism??
Dystonia
Supranuclear gaze restriction  - A vertical gaze palsy is a bilateral, limitation of the eye movements in upgaze and/or downgaze

MMSE shows cognitive and emotional deficits

Question 4

what is chorea?

Answer 4

a neurological disorder characterized by jerky involuntary movements affecting especially the shoulders, hips, and face.

Question 5

what is dystonia?

Answer 5

Dystonia is the name for uncontrolled and sometimes painful muscle movements (spasms)

Question 6

ivx for huntington’s?

Answer 6

Genetic Analysis;
Diagnostic if there are > 39 CAG repeats in the HD gene
Reduced penetrance leads to an intermediate number of CAG repeats

Imaging;
Brain MRI or CT may show symmetrical atrophy of the striatum and butterfly dilation of the lateral ventricles