Huntington's Disease

Question 1

Where is affected?

Answer 1

Striatum
Cerebellum
Frontal lobe

Question 2

What does genetic anticipation mean?

Answer 2

Each successive generation may have more repeats and hence earlier onset

Question 3

Age of onset?

Answer 3

35-50

Question 4

S+S:

Motor:

• They get chorea. What does this mean?
• What does ‘milkmaid’s grip’?
• What type of hypertonia do they get?
• What other motor symptoms do they have? - think everything motor!!
• What type of seizures do they have?

Answer 4

Irregular, spontaneous movements - ranges from hand twitches to gait problems

Involuntary release when squeezing something = motor impersistence - an ability to maintain posture 
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Rigidity 
Bradykinesia 
Dysarthria 
Dysphagia 

GTCS

Question 5

S+S:

Psychiatric symptoms

When may these symptoms appear?

Later features?

Answer 5

Depression
Psychosis, including mania
Behavioural disorders including apathy, irritability, impulsivity and disinhibition

Up to 15 yrs before motor symptoms

Dementia
Weight loss - VERY LATE

Question 6

DDx of chorea?

Answer 6

Huntington's 
Benign familial chorea
Wilson's
Parkinsonism
Levodopa 
Encephalitis

Question 7

Investigations:

The only way to diagnose

What would a CT/MRI head show?

Answer 7

Genetic testing - can be done prenatally or pre-symptomatically

Caudate, striatal, or frontal atrophy.
Dilated lateral ventricles.

Question 8

Management:

What needs to be provided for all first?

How are psychiatric features managed?

How is the chorea managed?

How is the bradykinesia and rigidity managed?

Answer 8

Counselling and support for patient and family

SSRIs, ECT, antipsychotics, CBT

Tetrabenazine, benzodiazepines, or antipsychotics

Dopamine agonists, levodopa

Question 9

Complications from:

Dysphagia
Gait problems
Psych symptoms

Answer 9

Choking and aspiration
Accidents and falls
Reduced self-care and child protection issues