Huntington's disease (HD)

Question 1

1) What is the pattern of inheritance in HD?
2) Patients are usually asymptomatic until symptoms begin around what age?
3) Huntington’s chorea is a “trinucleotide repeat disorder” that involves the repeat expansion of which 3 nucleotides?

Answer 1

1) Autosomal dominant
2) 30-50
5) CAG

Question 2

1) HD displays a genetic feature called anticipation - what does this mean?
2) Name a consequence of anticipation

Answer 2

1) Successive generations have more repeats in the gene
2) Earlier age of onset and increased severity of disease

Question 3

1) Name 2 symptoms that occur in the early stages of HD
2) As the disease progresses, movement disorders become more apparent - name 2 of these

Answer 3

1) Cognitive, psychiatric or mood problems
2) Chorea (involuntary, abnormal movements), eye movement disorders, dysarthria, dysphagia

Question 4

How is HD diagnosed?

Answer 4

Genetic test for the faulty gene

Question 5

How is HD managed?

Answer 5

Supporting patient and family and medication to control symptoms where possible