Huntingtons

Question 1

What type of genetic condition is Huntington’s? E.g. dominant

Answer 1

Autosomal dominant

Question 2

What chromosome is affected in huntingtons?

Answer 2

4

Question 3

What age is onset of symptoms in Huntington’s?

Answer 3

30-50

Question 4

What trinucleatide repeat is seen in huntingtons?

Answer 4

CAG

Question 5

What is anticipation in Huntingtons?

Answer 5

Successive generations have more trinucleatide repeats results in
• Earlier age of onset
• Increased severity of disease

Question 6

What are the 3 presenting symptoms of Huntingtons? What symptoms follow? (6)

Answer 6

Cognitive, psychiatric and mood problems
• Chorea (involuntary, random, irregular and abnormal body movements)
• Dystonia (abnormal muscle tone, leading to abnormal postures)
• Rigidity (increased resistance to the passive movement of a joint)
• Eye movement disorders
• Dysarthria (speech difficulties)
• Dysphagia (swallowing difficulties)

Question 7

How is Huntingtons diagnosed?

Answer 7

Genetic testing

Question 8

What is included in the management of Huntingtons? (9)

Answer 8

• Breaking bad news effectively and supportively
• Genetic counselling regarding relatives, pregnancy and children
• Multidisciplinary team (MDT) input to support and maintain their quality of life
• Physiotherapy to improve mobility, maintain joint function and prevent contractures
• Speech and language therapy where there are speech and swallowing difficulties
• Tetrabenazine may be used for chorea symptoms
• Antidepressants (e.g., SSRIs) for depression
• Advanced directives to document their wishes as the disease progresses
• End-of-life care

Question 9

What drug can be used to manage chorea in Huntingtons?

Answer 9

Tetrabenazine

Question 10

What is the prognosis of Huntingtons?

Answer 10

10-20 years after onset of symptoms

Question 11

What is death a result of usually in Huntingtons? (2)

Answer 11

Aspiration pneumonia
Suicide