Huntingtons Disease Flashcards by Jenn Cantilli

what tends to be the primary motor sx

chorea

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what is huntingtons dz

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

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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

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how does degeneration differ b/w HD and PD

HD = caudate and putamen
PD = substantia nigra

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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

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what is the most common cause of death in HD

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

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what is the life expectancy of someone w HD

15-25yr from onset of sx

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how progressive is the course of HD

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

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what are clinical manifestations of HD

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

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what is chorea

jerky, arrhythmical, involuntary extraneous mvmts

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what is dystonia

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

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what is athetosis

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

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what are the most common tics seen in HD

facial

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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

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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

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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