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Flashcards in Huntingtons Deck (20):
1

define huntingtons disorder

Progressive neurodegenerative disorder

2

what are the main movement clinical signs of huntingtons

chorea (jerky involuntary movements affecting especially the shoulders, hips, and face.)
dystonia, bradykinesia, swallowing/ choking, dysarthria

3

what are the main mood clinical signs of huntingtons

depression, euphoria (a feeling or state of intense excitement and happiness), apathy, anxiety, aggression, psychotic symptoms

4

what are the main cognition side effects of huntingtons

loss of executive functioning, rigidity of thought, memory loss, dementia

5

what is the mean age of onset of hunting tons

35-40 years old.

6

median survival after diagnosis of huntingotns

15-18 years.

7

what mode of inheritance is hunting tons

Autosomal dominant disorder

8

what type of penetrance do patients with hunting tons show

complete penetrance.

9

which gene and what location mutation causes huntingtons disease

HTT gene at 4q16.3

10

what trinucleotide repeat causes hunting tons

CAG

11

what effect does the polyglutamine repeat have on the structure of tissues

Abnormal protein – increased number of glutamine amino acids = polyglutamine (polyQ) expansion which alters protein structure and biochemical properties.

12

what protein aggregates in hunting tons

PolyQ cellular protein

13

what structure in the brain is primarily affected by hunting tons

basal ganglia.

14

define anticipation

the onset of a disorder occurs at an earlier age as it is passed from one generation to the next. Often this is associated with an increase in severity of symptoms.

15

The phenomenon of anticipation is often linked to the gender of the parent: In huntingtons is it linked to maternal or paternal inheritance

paternal

16

The phenomenon of anticipation is often linked to the gender of the parent: in my tonic dystrophy and fragile X syndrome is it linked to maternal or paternal inheritance

maternal

17

define predicitive testing

Unique situation of knowing in advance about the future

18

treatments for hunting tons

Symptomatic treatment only at present
No prevention or cure

19

what are the primary reasons for testing someone for hunting tons

Just ‘want to know’
Plan future care
Want to plan their career
Make decisions about children
Inform other relatives whose risk may change

20

why might people not test for hunting tons

Insurance
Changing risk to others
Impact on current relationships – and future..
Psychological impact
No medical advances yet