huntingtons disease Flashcards
Huntington’s is a non-genetic disorder. T or F
false: genetic
Huntington’s is a gene mutation on chromosome _______ that causes DNA sequence (CAG) to repeat more in _______ DNA
4; normal
protein mutated is called ______ and it helps with nerve _____
huntington; function
mutations lead to a build of ______ fragments which effect the _____&____ specifically
toxic; caudate & putamen
which lobes of the cortex are affected by Huntington’s
frontal and temporal
Basal ganglia: initially you have _______ of indirect ____ pathway: the thalamus is excited leading to excess ______ or _______
disinhibition; D2
movement or chorea
Basal ganglia: With the late stage you get damage of the _______ pathway: the thalamus is inhibited leading to loss of __________ or _______
direct D1;
movement or hypokinesia
S&S of HD
personality changes, mood swings, depression
forgetfulness, impaired judgment and memory
unsteady gait and involuntary movements (chorea)
slurred speech, difficulty swallowing, and significant weight loss
Etiology of HD:
usually diagnosed in _____-aged adults
usually in people of _________ decent
middle (30–50)
Western European descent
Types of HD:
sporadic - spontaneous mutation
juvenile - before age of 20
genetic (most common)
late onset -after 59
Juvenile S&S differ from adults:
stiffness in legs (rigidity > chorea)
clumsiness ina arms and legs
seizures
Juveniles have more _________ progression and less _______
-more likely when ________ has HD gene
progressive; life expectancy
father
due to being a genetic disorder, you have a ______ chance of developing HD.
50/50
Diagnostic process:
neuro exam and PMH
–family
perform physical exam
Imaging (MRI/CT): with disease progression, you would see _______ in the brain with enlargement of _______
early HD would have normal or abnormal findings?
shrinking; ventricles
normal
what is the best diagnostic test for HD? why?
genetic testing: involves counting CAG repeats on the Huntington gene
36+ repeats for CAG on the Huntington gene is _______
_____ or less is (-)
positive for HD
26
prognosis for HD:
poor: it is fatal usually due to heart failure and pneumonia
pts. are dependent on requiring max assist for everything by end of course
medical treatment/management of HD:
no cure for the disease
neurologists, psychologists and medication needed
weight loss due to chorea and constant movement
difficulty swallowing: SLP needed
—consider a feeding tube
PT can treat and work on:
movement, balance, gait dysfunctions
OT or SLP can work with:
cognitive changes
Early stage of HD
functional: driving, working, handling money, walking
difficulty w/coordination
mild chorea
difficulty w/higehr level functions
mild depression, irritability
The middle stage of HD:
no longer able to do early-stage tasks
need assist with eating, dressing, and personal hygiene
S&S has become very persistent
The late stage of HD:
assist for ____ ADLs
usually non-verbal and ______
either severe _______ OR have Parkinson’s-like symptoms
all; bedridden
chorea
Unified Huntington’s Disease Rating Scale (UHDRS):
- ______ scores are worse
- looks at:
- higher
- motor function, cognition, behavior, and functional ability
UHDRS:
- cognitive battery section looks at:
- functional assessment looks at:
- verbal fluency, pairing numbers and shapes, stroop test (color & words)
- ADL/activity level functions
what do we focus PT interventions on for Huntington’s?
compensation and prevention –> we cannot remediate a progressive disease, only focus on addressing functional deficits
PT interventions for huntington’s ?
intervene based on deficits
think of future needs
caregiver education and training
exercise and physical activity had physical and social benefits
