huntingtons disease

Question 1

Huntington’s is a non-genetic disorder. T or F

Answer 1

false: genetic

Question 1

Huntington’s is a gene mutation on chromosome _______ that causes DNA sequence (CAG) to repeat more in _______ DNA

Answer 1

4; normal

Question 2

protein mutated is called ______ and it helps with nerve _____

Answer 2

huntington; function

Question 3

mutations lead to a build of ______ fragments which effect the _____&____ specifically

Answer 3

toxic; caudate & putamen

Question 4

which lobes of the cortex are affected by Huntington’s

Answer 4

frontal and temporal

Question 5

Basal ganglia: initially you have _______ of indirect ____ pathway: the thalamus is excited leading to excess ______ or _______

Answer 5

disinhibition; D2
movement or chorea

Question 6

Basal ganglia: With the late stage you get damage of the _______ pathway: the thalamus is inhibited leading to loss of __________ or _______

Answer 6

direct D1;
movement or hypokinesia

Question 7

S&S of HD

Answer 7

personality changes, mood swings, depression

forgetfulness, impaired judgment and memory

unsteady gait and involuntary movements (chorea)

slurred speech, difficulty swallowing, and significant weight loss

Question 8

Etiology of HD:
usually diagnosed in _____-aged adults
usually in people of _________ decent

Answer 8

middle (30–50)
Western European descent

Question 9

Types of HD:

Answer 9

sporadic - spontaneous mutation
juvenile - before age of 20
genetic (most common)
late onset -after 59

Question 10

Juvenile S&S differ from adults:

Answer 10

stiffness in legs (rigidity > chorea)
clumsiness ina arms and legs
seizures

Question 11

Juveniles have more _________ progression and less _______
-more likely when ________ has HD gene

Answer 11

progressive; life expectancy
father

Question 12

due to being a genetic disorder, you have a ______ chance of developing HD.

Answer 12

50/50

Question 13

Diagnostic process:

Answer 13

neuro exam and PMH
–family
perform physical exam

Question 14

Imaging (MRI/CT): with disease progression, you would see _______ in the brain with enlargement of _______

early HD would have normal or abnormal findings?

Answer 14

shrinking; ventricles
normal

Question 15

what is the best diagnostic test for HD? why?

Answer 15

genetic testing: involves counting CAG repeats on the Huntington gene

Question 16

36+ repeats for CAG on the Huntington gene is _______

_____ or less is (-)

Answer 16

positive for HD
26

Question 17

prognosis for HD:

Answer 17

poor: it is fatal usually due to heart failure and pneumonia

pts. are dependent on requiring max assist for everything by end of course

Question 18

medical treatment/management of HD:

Answer 18

no cure for the disease
neurologists, psychologists and medication needed
weight loss due to chorea and constant movement
difficulty swallowing: SLP needed
—consider a feeding tube

Question 19

PT can treat and work on:

Answer 19

movement, balance, gait dysfunctions

Question 20

OT or SLP can work with:

Answer 20

cognitive changes

Question 21

Early stage of HD

Answer 21

functional: driving, working, handling money, walking

difficulty w/coordination
mild chorea
difficulty w/higehr level functions
mild depression, irritability

Question 22

The middle stage of HD:

Answer 22

no longer able to do early-stage tasks

need assist with eating, dressing, and personal hygiene

S&S has become very persistent

Question 23

The late stage of HD:
assist for ____ ADLs
usually non-verbal and ______
either severe _______ OR have Parkinson’s-like symptoms

Answer 23

all; bedridden
chorea

Question 24

Unified Huntington’s Disease Rating Scale (UHDRS):
- ______ scores are worse
- looks at:

Answer 24

• higher
• motor function, cognition, behavior, and functional ability

Question 25

UHDRS:
- cognitive battery section looks at:
- functional assessment looks at:

Answer 25

• verbal fluency, pairing numbers and shapes, stroop test (color & words)
• ADL/activity level functions

Question 26

what do we focus PT interventions on for Huntington’s?

Answer 26

compensation and prevention –> we cannot remediate a progressive disease, only focus on addressing functional deficits

Question 27

PT interventions for huntington’s ?

Answer 27

intervene based on deficits
think of future needs
caregiver education and training
exercise and physical activity had physical and social benefits