Huntingtons Disease Flashcards
what tends to be the primary motor sx
chorea
what is huntingtons dz
inherited, neurodegen dz of BG –> mvmt disorder w cog and psych changes
what is the pathophys of huntingtons dz
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
how does degeneration differ b/w HD and PD
HD = caudate and putamen
PD = substantia nigra
what tends to be the more prominent sx of HD
psych and cog tend to be more pronounced and severe and present before mvmt changes
what is the most common cause of death in HD
d/t infections (aspiration pneumonia)
- also high risk of skin pressure ulcers becoming septic
what is the life expectancy of someone w HD
15-25yr from onset of sx
how progressive is the course of HD
slower progressing than other neurodegen
- median survival rate of 18yrs after onset of sx
what are clinical manifestations of HD
chorea
dystonia
athetosis
tics (facial)
cog/psych
altered speech
dysphagia
impaired eye mvmts
what is chorea
jerky, arrhythmical, involuntary extraneous mvmts
what is dystonia
repetitive, involuntary ms contraction causing abnormal posture
- fluctuations in ms tone causing obligatory mvmts w changing tone
what is athetosis
rhythmical, writhing motions
- more rhythmical than chorea
- “dance like”
- tends to affect some ms and parts of body predictably
what are the most common tics seen in HD
facial
what clinical manifestations are seen in late stages of HD and why is this the case
bradykinesia, akinesia, rigidity
dopamine normal until later stages when it is depleted
- will see more motor sx at this point
what gait abnormalities may be seen w HD in later stages
dec velocity
dec stride length
dec cadence
inc BOS, lateral sway & variability
- likely compensatory to inc BOS d/t lateral sway
what is often the source of more disability in HD
cog and psych manifestations
what is the most prominent cog/psych clinical manifestation seen
impaired memory
dementia
what are cog and psych clinical manifestations
impaired memory, dementia
mood disorders
personality changes
impulsive behaviors
executive functioning
suicide
what is often the first motor sx
impaired voluntary eye mvmt
- difficulty initiating and controlling saccades
- difficulty tracking
why is it important to screen eyes in HD
can impact balance
what is a difference b/w HD and PD in the motor sx
at night - PD resting tremors will stop
in HD, will continue to have athentosis/chorea/extraneous mvmts even at night when sleeping
what is the standardized test & measure for HD
unified HD rating scale (UHDRS)
what domains does the UHDRS eval
cog function
motor function
- eye mvmts
- dysarthria
- dystonia
- chorea
- pull test
- coordination
- rigidity
- bradykinesia
- gait
behavior
functional abilities
independence
what is the goal of medical management in HD
no dz specific or modifying meds, looking to manage sx
how is sx of chorea medically managed and what is a limitation
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
how are sx of depression and other psych sx managed medically
SSRIs
- antipsychotics if SSRI not effective
what med is used w caution when medically managing psych sx in HD and why
tricyclic antidepressants
- neg effects on cog
deep brain stim and HD
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
what is a large determinant in our approach to PT when we do our subjective
cognition
what are goals of PT interventions
QOL
participation
what are PT interventions
relaxation strategies
trunk stability
strength
flexibility, ms length, tone
balance exercises
coordination
gait
goal of relaxation strategies for HD, how it varies depending on stage of dz
dec extraneous mvmts
earlier stages: biofeedback, progressive relaxation
later stages: passive techniques, slow rocking, neutral warmth
why are relaxation strategies a helpful intervention in HD
if embarrassed, anxious, stressed - the extraneous mvmts become more severe and pronounced
relaxation can help activate parasympathetic to dec involuntary mvmt
trunk stability in HD: goal, strategies, benefits, evidence
improve core strength
NDT, PNF rhythmic stabilization
improve functional mobility and gait
helpful for co-activation
low level evidence
what ms are we trying to specifically strengthen in HD
trunk
extremities
respiratory ms
HD vs PD in PT coordination interventions
HD: limit mvmt
- emphasize control, precision, fine mvmts
PD: focus on big amp mvmts
PT interventions for gait in HD
auditory stim can help
part task
small amp emphasis
what is a common cause of mortality in HD
pneumonia
who are other interprofessional providers that should be on the pt’s team
SLP
OT
neuropsych - manage cog/psych
neurologist - dx, med, DBS
