Huntington's disease

Question 1

What is the inheritance pattern for huntington’s disease?

Answer 1

Autosomal dominant

• also has genetic anticipation - meaning successive generations have earlier age of onset as well as increased severity

Question 2

At what age do symptoms of huntington’s disease normally begin?

Answer 2

Between 30 and 50

Question 3

What is huntington’s disease?

Answer 3

An autosomal dominant, genetic condition that causes a progressive deterioration in the nervous system.

Question 4

What is the genetic abnormality in huntington’s disease?

Answer 4

Trinucleotide repeat disorder where there are CAG repeats due to a mutation of the HTT gene on chromosome 4

Question 5

How does huntington’s disease present?

Answer 5

Progressive worsening of symptoms such as
- cognitive or mood problems
- chorea - involuntary, abnormal movements
- eye movement disorders
- dysarthria - difficulty speaking
- dysphagia - difficulty swallowing

Question 6

How is huntington’s disease managed?

Answer 6

• physiotherapy, speech and language therapy, occupational therapy
• genetic counselling
• medications that may help disordered movements –> antipsychotics such as olanzapine or benzodiazepines
• antidepressants can also be given

Question 7

What is the life expectancy for someone with huntington’s disease?

Answer 7

15-20 years after onset of symptoms.

• often become susceptible to infections hence die from respiratory infections.
• suicide is also a big cause of death