Genetics Flashcards

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1
Q

anticipation phenomenon

A

This is where successive generations have more repeats in the gene, resulting in:
-Earlier age of onset
-Increased severity

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2
Q

cause of Huntington’s?

A

autosomal dominant mutation

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3
Q

chance of patient with huntingtons passing it on to their kid?

A

50% - as it is autsomal dominant

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4
Q

psych symptoms of huntingtons?

A
  • Compulsions
    • Suicidality
    • Aggression
    • Blunted affect
    • Depression
    • Psychosis
    • Anxiety
    • Depression
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5
Q

cognitive symptoms of huntingtons?

A

-Short and long term memory deficits
-Decline in executive function
-Dementia (progressive decline in global cognition)

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6
Q

motor symptoms of huntingtons?

A
  • Choreiform movements (affects basal ganglia)
    • Rigidity
    • Writhin movements
    • Gait disturbance
    • Problems chewing/ swallowing/ speaking
    • All actions requiring muscle control become impaired
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7
Q

example of a disease that shows anticipation?

A

Huntingtons

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8
Q

when do patients with huntingtons typically start to show symptoms?

A

30-50 years

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