Huntington Disease HD Flashcards
Huntington Disease Health Condition & BSF Impairments
Progressive hereditary disorder
Characterized by abnormalities of movement, personality disturbances, and dementia
Associated with choreic movements that are purposeless, involuntary and random
The number of CAG repeats correlates with disease burden
Diagnosed by genetic testing
Cerebral cortex and basal ganglia are most affected
Huntington’s disease Medications
Dopamine antagonists to treat chorea
- Tetrabenzine
- Deutrabenzine
- Nabilone (delta-9-THC)
Disease modifying (future)
- PTC518
Huntington’s Disease Diagnosis specific T&M
Unified Huntington Disease Rating Scale (UHDRS)
Huntington’s Disease Interventions
Aerobic and strengthening exercise 3x/week for 12 weeks
Individualized gait training
Individualized balance training
Individualized movement strategy training
Huntington Disease Special Considerations
High suicide risk
Juvenile form is more aggressive
Juvenile form presents with more cognitive behavior problems first
Cachexia is common
Huntington Disease Movement System Diagnoses
Coordination
What indicates the severity of Huntington’s Disease?
CAG Repeats
Normal is <26
27-35 will pass to children
>40 will develop
>50 juvenile onset
Surgical Procedures to treat Huntington’s Disease
Removal of medial globus pallidus
Adrenal medullary graft implantation
Fetal cell implantation in the striatum
Juvenile onset huntington’s disease symptoms
More severe cognitive behavioral problems
Rigidity & parkinsonism
Seizures
Speech & swallowing problems
Chorea leading to gait disturbance in adulthood
Adult onset Huntington’s Disease cognitive/behavioral signs & symptoms
Decrease in judgement
Changes in behavior
Memory loss
Depression
Hostility
Apathy
IQ decrease
Speech & writing deterioration
Adult onset Huntington’s Disease motor signs & symptoms
Choreiform movements
Apraxia
Cerebellar signs: ataxic gait, decreased force control
Motor impersistence
Dystonia
Oculomotor abnormalities
- Saccades: slow, inaccurate
- Saccadic intrusions w/ smooth pursuits
- Visual distractibility
Stages of Huntington’s Disease
Early
1. Able to perform ADLs, live at home, work
2. Able to perform ADLs, live at home, work at a lower level, need assistance for finances
Middle
3. Min assist for ADLs, unable to perform IADLs, unable to work, may live at home with support
Late
4. Mod assist for ADLs, may live in care facility
5. Max assist for ADLs, lives in total care facility
Huntington Disease Diagnosis
Clinical Signs
- Cognitive
- Psychiatric
-Motor - hyperkinesia
Family History
Genetic testing (gold standard)
Huntington Disease Prognosis
Younger symptomatic people (15-40) have higher severity of disease
Slowly progressive
- increasing disability from movement disorder and cognitive changes
Death occurs 15-20y after symptom onset
