Introduction

Question 1

Neurogeneti

Answer 1

Any disease affecting the nervous system that has a genetic etiology

Question 2

Neurodegenerative

Answer 2

Any neurological disease that progressively destroys affected neuronal structures and functions

Question 3

Movement Disorder

Answer 3

A neurological condition causing abnormal movement unrelated to spasticity or muscle weakness

Question 4

HD mean age of onset

Answer 4

36-45yo

Question 5

Normal CAG repeats

Answer 5

26 or fewer

Question 6

Intermediate CAG repeats

Answer 6

27-35

Question 7

HD reduced penetrance CAG repeats

Answer 7

36-39 repeats

Question 8

HD full penetrance CAG repeats

Answer 8

40+ repeats

Question 9

Unified HD Disease Rating Scale looks at

Answer 9

Motor function
Cognitive function
Behavioural abnormalities
Functional capacity

Question 10

Involuntary Motor Impairment

Answer 10

Chorea
Tics
Rigidity
Dystonia
Tremor
Myoclonus

Question 11

Voluntary Motor Impairment

Answer 11

Gait
Eye movements
Swallowing
Speech

Question 12

Psychiatric disorders in HD

Answer 12

Affective disorders/depression
Irritability
Apathy
Anxiety
Psychosis
OCD

Question 13

Cognitive Impairments in HD

Answer 13

Forgetfulness
Slow thought processing
Attention and concentration deficits
Word finding difficulties
Dementia

Question 14

Gene for HDL1

Answer 14

PRNP

Question 15

Gene for HDL 2

Answer 15

JPH3

Question 16

HDL 3

Answer 16

Childhood onset, recessive

Question 17

Juvenille HD

Answer 17

>50 CAG repeats
Stiffness of the legs
Clumsiness of arms and legs 
Decline in cognitive function
Changes in behaviour
Seizures
Changes in oral motor function

Question 18

Should we test for juvenille HD

Answer 18

Not unless progressively symptomatic

Question 19

Major cause of death in HD

Answer 19

Aspiration

Question 20

Homework for HD patients while they wait

Answer 20

List how positive/negative result will affect their life
Have discussions with fam members-if they want to be given results
Consider insurance