Huntington's Chorea

Question 1

What is Huntington’s?

Answer 1

autosomal dominant genetic condition causing degeneration of nervous system due to lack of GABA

Question 2

What is anticipation?

Answer 2

trinucleotide repeat disorders causing early onset

Question 3

Presentation of Huntington’s?

Answer 3

Prodromal phase (change in mood), chorea (involuntary, abnormal movements), eye movement disorders, dysarthria, dysphagia

Question 4

Investigations of Huntington’s?

Answer 4

genetics, MRI (caudate nucleus atrophy, increased size of frontal horns)

Question 5

Treatment of Huntington’s?

Answer 5

no treatment but can manage symptoms with benzodiazepines. speech/ language therapy, MDT, end of life care.