Neurology 12 - Huntingdon's

Question 1

key info about Huntingdon’s disease

Answer 1

dominant

symptoms 30-50 yrs

trinucleotide repeat disorder
HTT gene on chrom 4
genetic anticipation occurs

Question 2

presentation of Huntingdon’s

Answer 2

chorea (involuntary abnormal movements)
eye movement disorders
dysarthria
dysphagia

usually begin with psych + cognitive problems before the above

Question 3

diagnosing Huntingdon’s

Answer 3

pre test and post test counselling

genetic testing at specialist centre

Question 4

treating Huntingdon’s

Answer 4

sympto relief only sadly

antipsychotics
benzos
dopamine depleting agents (tetrabenazine)
antidepressants

life expectancy is less than 20 years from diagnosis