Huntingtons

Question 1

what is huntingtons disease

Answer 1

progressive neurodegenerative disorder

Question 2

what are symptoms of huntingtons

Answer 2

-Involuntary jerking or writhing movements (chorea)
-Muscle problems, such as rigidity or muscle contracture (dystonia)
-Slow or unusual eye movements.
-Impaired gait, posture and balance.
-Difficulty with speech or swallowing.
-may cause periods of depression

Question 3

treatment

Answer 3

supportive
symptomatic

needs change over course of illness

Question 4

what is the genetic defect in Huntingtons

Answer 4

trinucleotide expansion (CAG) in the coding region of one copy of the patients Huntingtons genese

Question 5

Why is the genetic inheritance pathological

Answer 5

genetic change results in a protein with increased tendency to aggregate in a manner which is neurotoxic

Question 6

what are some things to think about in regards to advantages/disadvantages to having genetic testing for h disease

Answer 6

relief
freedom to make informed choice
emotional burden of knowing
emotional burden of doubt
easier to live in ignorance?
confidentiality
being informed help future?
how will relationships change?
how reliable are the lab test- could be ambiguous or wrong
what if employer finds out?
knowing in advance would that help with coping?
what if life insurer finds out?

Question 7

what is the minimum age for testing

Answer 7

age of majority

Question 8

what is the recommended time that should elapse between first discussions with a genetic counsellor about a test and the decision whether to take the test

Answer 8

at least a month

Question 9

if someone decides to take a test but changes their mind, do they still have to receive the results

Answer 9

NO

Question 10

what are two ways to know if there are wats to have children without passing the disease on

Answer 10

1. PRENATAL TESTING
   -DNA removed and test AFTER pregnancy has begun
   -pregnancy continued if HD genetic test is negative
2. PREIMPLANTATION GENETIC DIAGNOSIS
   -eggs and sperm combined to form embryos in the lab
   -single cell removed from each embryo and genetically tested
   -embryos without the HD mutation are implanted into the womb

therefore dont necessarily have to have HD genetic test themselves

Question 11

what is the difference between exclusion testing and non-disclosure testing

Answer 11

exclusion testing
-inheritance of chromosomes as a whole are studied
-take DNA samples from the at risk person, one of their parents and their partner, plus unborn baby (CVS)
non-disclosure (not done in UK)
-specific gene is tested
-dont find out their own genetic status
-if all embryos have the mutation they will be told the fertilisation failed but not why