Huntingtons Disease

Question 1

what tends to be the primary motor sx

Answer 1

chorea

Question 2

what is huntingtons dz

Answer 2

inherited, neurodegen dz of BG –> mvmt disorder w cog and psych changes

Question 3

what is the pathophys of huntingtons dz

Answer 3

Ach levels dec in direct loops
- dopamine levels preserved until late stages

mitochondrial function is disrupted
marked loss of medium spiny neurons in caudate and putamen

net effect: malfunction in BG circuits w presence of unwanted, involuntary mvmts (chorea) and impaired voluntary mvmts

Question 4

how does degeneration differ b/w HD and PD

Answer 4

HD = caudate and putamen
PD = substantia nigra

Question 5

what tends to be the more prominent sx of HD

Answer 5

psych and cog tend to be more pronounced and severe and present before mvmt changes

Question 6

what is the most common cause of death in HD

Answer 6

d/t infections (aspiration pneumonia)
- also high risk of skin pressure ulcers becoming septic

Question 7

what is the life expectancy of someone w HD

Answer 7

15-25yr from onset of sx

Question 8

how progressive is the course of HD

Answer 8

slower progressing than other neurodegen
- median survival rate of 18yrs after onset of sx

Question 9

what are clinical manifestations of HD

Answer 9

chorea
dystonia
athetosis
tics (facial)
cog/psych
altered speech
dysphagia
impaired eye mvmts

Question 10

what is chorea

Answer 10

jerky, arrhythmical, involuntary extraneous mvmts

Question 11

what is dystonia

Answer 11

repetitive, involuntary ms contraction causing abnormal posture
- fluctuations in ms tone causing obligatory mvmts w changing tone

Question 12

what is athetosis

Answer 12

rhythmical, writhing motions
- more rhythmical than chorea
- “dance like”
- tends to affect some ms and parts of body predictably

Question 13

what are the most common tics seen in HD

Answer 13

facial

Question 14

what clinical manifestations are seen in late stages of HD and why is this the case

Answer 14

bradykinesia, akinesia, rigidity

dopamine normal until later stages when it is depleted
- will see more motor sx at this point

Question 15

what gait abnormalities may be seen w HD in later stages

Answer 15

dec velocity
dec stride length
dec cadence
inc BOS, lateral sway & variability
- likely compensatory to inc BOS d/t lateral sway

Question 16

what is often the source of more disability in HD

Answer 16

cog and psych manifestations

Question 17

what is the most prominent cog/psych clinical manifestation seen

Answer 17

impaired memory
dementia

Question 18

what are cog and psych clinical manifestations

Answer 18

impaired memory, dementia
mood disorders
personality changes
impulsive behaviors
executive functioning
suicide

Question 19

what is often the first motor sx

Answer 19

impaired voluntary eye mvmt
- difficulty initiating and controlling saccades
- difficulty tracking

Question 20

why is it important to screen eyes in HD

Answer 20

can impact balance

Question 21

what is a difference b/w HD and PD in the motor sx

Answer 21

at night - PD resting tremors will stop

in HD, will continue to have athentosis/chorea/extraneous mvmts even at night when sleeping

Question 22

what is the standardized test & measure for HD

Answer 22

unified HD rating scale (UHDRS)

Question 23

what domains does the UHDRS eval

Answer 23

cog function
motor function
- eye mvmts
- dysarthria
- dystonia
- chorea
- pull test
- coordination
- rigidity
- bradykinesia
- gait

behavior
functional abilities
independence

Question 24

what is the goal of medical management in HD

Answer 24

no dz specific or modifying meds, looking to manage sx

Question 25

how is sx of chorea medically managed and what is a limitation

Answer 25

similar meds to PD

the ADE/ADRs are often worse than the HD sx themselves
- compliance is so low
- may help manage sx, but QOL is so poor

Question 26

how are sx of depression and other psych sx managed medically

Answer 26

SSRIs
- antipsychotics if SSRI not effective

Question 27

what med is used w caution when medically managing psych sx in HD and why

Answer 27

tricyclic antidepressants
- neg effects on cog

Question 28

deep brain stim and HD

Answer 28

not FDA approved in HD yet
- has been approved for PD and essential tremor

clinical trials available
beneficial effect on chorea and cog in rats

Question 29

what is a large determinant in our approach to PT when we do our subjective

Answer 29

cognition

Question 30

what are goals of PT interventions

Answer 30

QOL
participation

Question 31

what are PT interventions

Answer 31

relaxation strategies
trunk stability
strength
flexibility, ms length, tone
balance exercises
coordination
gait

Question 32

goal of relaxation strategies for HD, how it varies depending on stage of dz

Answer 32

dec extraneous mvmts

earlier stages: biofeedback, progressive relaxation
later stages: passive techniques, slow rocking, neutral warmth

Question 33

why are relaxation strategies a helpful intervention in HD

Answer 33

if embarrassed, anxious, stressed - the extraneous mvmts become more severe and pronounced

relaxation can help activate parasympathetic to dec involuntary mvmt

Question 34

trunk stability in HD: goal, strategies, benefits, evidence

Answer 34

improve core strength

NDT, PNF rhythmic stabilization

improve functional mobility and gait
helpful for co-activation

low level evidence

Question 35

what ms are we trying to specifically strengthen in HD

Answer 35

trunk
extremities
respiratory ms

Question 36

HD vs PD in PT coordination interventions

Answer 36

HD: limit mvmt
- emphasize control, precision, fine mvmts

PD: focus on big amp mvmts

Question 37

PT interventions for gait in HD

Answer 37

auditory stim can help
part task
small amp emphasis

Question 38

what is a common cause of mortality in HD

Answer 38

pneumonia

Question 39

who are other interprofessional providers that should be on the pt’s team

Answer 39

SLP
OT
neuropsych - manage cog/psych
neurologist - dx, med, DBS