Huntington's Disease Flashcards
What is HD aka Huntington’s Chorea
Neurological Disorder of the CNS:
Characterized by degeneration/atrophy of the basal ganglia (striatum) and cerebral cortex.
Etiology
Genetically transmitted as an autosomal dominant trait
(Chromosome 4)
What will patients initially present with?
- involuntary choreic movements (Huntington’s Chorea); grimacing, protrusion of the tongue, raising of the eyebrows (Tardive Dyskinesia)
- personality changes
Treatments
Genetic and psychological counseling to the patient and family
What is the typical age of onset?
35-55 y/o
What chromosome is associated with having a defect in HD?
- Defect linked to chromosome 4
What neurons see a decrease in overall quantity and activity?
GABA (Gamma-Aminobutyric Acid) Neurons
and
Acetylcholine Neurons
With progression of the disease what will patient present with? (mid-stage)
- Gait ataxia
- LE and truncal choreoathetoid movements
Late stage signs/symptoms?
- Decrease in IQ; cognitive decline
- Incontinence
- Dysphagia
- Inability to ambulate or transfer
In the late stage Choreiform movements can progress to?
Choreiform movements progressing to Rigidity
What laboratory or imaging studies may be used to confirm diagnosis?
MRI or CT: may be used to identify _atrophy or abnormalities of the cerebral cortex or basal ganglia
PET scan: May be used to obtain information regarding: Blood flow, oxygen uptake, metabolism
What patient education may be given for those with HD?
- Lying in prone
- Contracture prevention
- safety with mobility
What is the average life expectancy after clinical manifestation?
15 - 20 years
What should PT focus on?
Maximizing:
- Endurance
- Strength
- Balance
- Postural control
- Functional Mobility
When should pharmacological management be initiated?
pharmacological management once choreiform movements impairs patients functional capacity
