huntington's disease Flashcards
is HD hypokinetic or hyperkinetic
hyperkinetic
types of hyperkinetic movement disorders
- tremor
- chorea (HD)
- tics
- hemiballismus
- myoclonus
hemiballismus
- a rare neurological movement disorder
- involuntary, rapid, and forceful movements of the limbs on one side of the body
myoclonus
- a type of uncontrollable movement
- sudden, brief involuntary twitching, jerking, or spasm
what is HD
an inherited neurodegenerative disorder
pathophysiology of HD
- autosomal dominant trinucleotide repeat (too many proteins)
- chromosome 4
HD prevalence
5-8/100,000
HD age of onset
- from teens to old age
- typically 30-55 years
a child of an HD parent has ? chance of inheriting the gene
50/50 chance
what happens if a child does not inherit the HD gene
- will not develop the disease
- can’t pass it on
what happens if a child does inherit the HD gene
will sooner or later develop the disease
in genetics, if one child inherits HD does it have an effect on whether their siblings will get it?
no
how to diagnose HD
- clinical and family history
- genetic testing
- MRI
what would you see on an MRI in HD
- atrophy of caudate nuclei
- emptying or wasting effect
?% of onset before 21, which variant
- 5%
- Westphal variant
younger onset of HD prognosis
present more rapidly
frequent cause of death in HD
aspiration pneumonia
clinical features of HD
- chorea
- eye movement disorder
- psychiatric symptoms
- dementia (dysexecutive syndrome)
- parkinsonism
chorea
rapid, involuntary, non-repetitive movements
common psychiatric symptoms in HD
depression, agitation, anxiety, suicide
dysexecutive syndrome
- group of symptoms, usually resulting from brain damage
- cognitive, behavioural and emotional categories
categories of HD symptoms
- physical/movement
- cognitive
- psychiatric/behavioral
motor symptoms in HD
- chorea
- dystonia
- rigidity
- bradykinesia
- gait disorder
dystonia
- neurological hyperkinetic movement disorder
- involuntary sustained or repetitive muscle contractions
- twisting and repetitive movements or abnormal fixed postures
cognitive symptoms in HD
- difficulties planning and organizing
- lack of initiation (activities and conversations)
- perseveration
- impulsivity
- irritability and temper outburst
- perceptual problems
- unawareness/lack of insight
- difficulty in new learning
- SLCN
behavioral symptoms in HD
- depression
- OCD
- irritability
- apathy
- anxiety
movement in HD
- affects normal voluntary movements
- involuntary, random, choreiform movements
- affects any part of the body
both chorea and impairment of voluntary movements progress in the middle stages of HD but later…?
chorea declines as patients become rigid and unable to initiate voluntary movements
cognition is characterized initally by ? and develops into ?
- loss of speed and flexibility (seen first in complex tasks)
- develop more global impairments (judgement, memory, concentration)
depression prevalence
63% of HD patients
depression often precedes ?
neurological symptoms
mania prevalence
2-12%
? is more common in HD than other neurological conditions
suicide
psychosis related to HD is…
more resistant to treatment than psychosis in schizophrenia
early signs of HD
- depression (irritability, low motivation, withdrawal of activities and friends, decline in personal appearance, lack of behavioral initiation)
- decreased spontaneous speech
- constriction of emotional expression
- clumsiness
- chorea
- sexual dysfunction
middle signs of HD
- unsteadiness
- dropping things
- gait disorder
- sleep disorder
- cognitive dysfunction
- decreased cognition
late signs of HD
- weight loss
- speech disorder
- swallowing disorder
- bladder/bowel incontinence
MDT HD management
- genetic counseling
- pharmacological
- supportive (SLT, dietician, PT, SW)
- end of life decisions
medications for HD
- tetrabenazine (chorea)
- antipsychotics
- antidepressants
? medications influence disease progression
none
OT role in HD
- ADLs
- cognition
PT role in HD
- mobility
- gait
- falls
HD rating scale
Unified Huntington’s Disease Rating Scale (UHDRS)
UHDRS
- Unified Huntington’s Disease Rating Scale
- 4 measures (motor, cognitive, behavioral, functional)
? dysarthria in HD
hyperkinetic
hyperkinetic dysarthria
- reflects underlying movement disorder
- involuntary contractions of muscle groups
- all subsystems
general hyperkinetic dysarthria (subsystem symptoms)
- articulation
- episodes of hypernasality
- harshness, breathiness
- unplanned loudness variation
- altered rate
- prolonged phonemes and intervals (inappropriate silences)
- equalized stress
hyperkinetic dysarthria (subsystem symptoms) specific to HD
- sudden forced inspiration/expiration
- articulatory breakdowns
- phonatory impairment (harsh, strained-strangled quality, excessive loudness)
- prosody impairment (monopitch, monoloudness, reduced stress, short phrases)
HD hyperkinetic dysarthria management
- reduce rate
- stress and intonation drills
- speaking on exhalation
- rhythmic breathing
- AAC
- yes/no system
- educate conversational partner
language changes in HD
- receptive language (complex discourse, drawing inferences)
- latency of responses
- WFD
- decreased utterance length, syntactical complexities
- increased vulnerability to interference
- difficulties maintaining topic of conversation
- perseveration
hyperkinetic subgroup dysphagia
- rapid lingual chorea
- swallow incoordination
- repetitive swallows
- prolonged laryngeal elevation
- inability to stop respiration
- frequent eructation
eructation meaning
release of air or gas from the stomach or esophagus through the mouth
rigid-bradykinetic subgroup dysphagia
- mandibular rigidity
- slow lingual chorea
- coughing on foods
- choking on liquids
HD effect on FEDS
- involuntary movements make it difficult to cut and transfer food
- too much food –> risk of choking
- spills food –> embarassment and reduced intake - unexpected gulps of air during swallowing (aspiration or choking)
- reduced muscle strength (difficulties moving the food from throat to the stomach)
- multiple swallows
- globus sensation - involuntary movements of lips and tongue –> difficulty controlling saliva (drooling and coughing)
- involuntary movements in the chest cavity –> difficulties containing food in the stomach
- regurgitation/reflux, vomiting
- globus sensation - reduced desire to eat a full meal –> weight loss (in addition to extra calories needed from chorea
HD dysphagia treatment
- family/carer education
- feeding techniques
- reduced anxiety and chorea
- reduce distractions
- diet modification
- alternative feeding
