predisposition to adult onset ddisease

Question 1

what are the clinical features of motor neuron disease?

Answer 1

> progressive
 - wasting
 - muscle wasting
 - increased reflexes
> pure motor signs
> cognition spared
> death due to resp. failure

Question 2

what are the clinical features of Huntington’s?

Answer 2

> chorea
> rigidity
> athetosis
> poor planning and memory
> subcortical dementia
> depression/psychosis/paranoia
> personality change (irritable, apathetic, disinhibition)

Question 3

what are the advantages of genetics testing?

Answer 3

> reduces concerns about self and offspring if negative

> can allow for planning and surveillance if positive

Question 4

what are the disadvantages of genetic testing?

Answer 4

> removes hope if positive
> uncertainty continues even if positive
> known risk to offspring if positive
> survivors guilt if negative
> expectation of a good result if negative

Question 5

what rules are there for genetic testing?

Answer 5

> info must be usable for prevention and treatment
requires adequate information about uncertainty
requires counselling
only be tested if there are potential medical benefits
3rd parties should have no access