What is Huntington's Disease? - ANSWER✔️inherited disorder, malfunction of Huntington gene
located on chromosome 4 - repeat of CAG triplets
What is the pathology of HD? - ANSWER✔️severe loss of neurons in the caudate and putamen
with subsequent astrocytosis; head of caudate becomes shrunken and there is dilatation of the
anterior horns of lateral ventricles; also see neuronal degeneration within the temporal and
frontal lobes of the cerebral cortex, globus pallidus, thalamus, subthalamic nucleus, substantial
nigra, and cerebellum
What age does progressive supra nuclear palsy onset? - ANSWER✔️50s-60s
What are the clinical features of progressive supra nuclear palsy that distinguish it from
idiopathic PD? - ANSWER✔️truncal rigidity > limb, tremor is rare, prominent early postural
instability and falls, limitation of vertical gaze esp. downgaze
What is very common in multiple system atrophy? - ANSWER✔️orthostatic hypotension
,What are the clinical features of multiple system atrophy? - ANSWER✔️Autonomic failure, OH,
bradykinesia, asymmetrical tremor, rigidity, postural instability, cerebellar dysfunction, gait/limb
ataxia, sustained gaze-evoked nystagmus
What are the two subdivisions of MSA? - ANSWER✔️predominant parkinsonian symptoms,
predominant cerebellar symptoms
What is corticobasalganglionic degeneration? - ANSWER✔️Cortical atrophy of the frontal and
parietal lobes and loss of dopamine in the substantia nigra
What are the clinical features of corticobasalganglionic degeneration? - ANSWER✔️progressive
dementia; limb apraxia in one arm (alien arm), rigidity, bradykinesia, no tremor, dystonia, visual
or tactile spatial neglect, nonfluent aphasia, impaired eye movements in horizontal and up gaze
What is Cri du Chat syndrome? - ANSWER✔️Chromosome 5 error
What is the primary clinical feature of cri du chat? - ANSWER✔️hypotonia (which may evolve
into hypertonia)
What are the clinical features of a child infected with cytomegalovirus? - ANSWER✔️CP,
microcephaly, seizures
What are the clinical features of FAS? - ANSWER✔️fine motor deficits, visual motor deficits,
balance deficits
What is Fragile X syndrome? - ANSWER✔️X chromosome mutation, most common cause of ID
What are the clinical features of Fragile X? - ANSWER✔️coordination and motor planning
issues, seizures
What is Hurler syndrome? - ANSWER✔️an autosomal recessive, lysosomal storage disorder
What are the features of Hurler syndrome? - ANSWER✔️hydrocephalus
What is Lesch-Nyhan syndrome? - ANSWER✔️an x-chromosome syndrome
What are the clinical features of Lewy Body Dementia? - ANSWER✔️early presentation of cog
sx with cog fluctuations, hallucinations, bradykinesia, rigidity, neuroleptic sensitivity, lack of
motor asymmetry at onset
Where is the lesion for PD: substantia nigra, basal ganglia + cortex, basal ganglia + cerebellum +
brainstem, brainstem? - ANSWER✔️substantia nigra
, Where is the lesion for Lewy Body Dementia: substantia nigra, basal ganglia + cortex, basal
ganglia + cerebellum + brainstem, brainstem? - ANSWER✔️basal ganglia + cortex
Where is the lesion for corticobasalganglionic degeneration: substantia nigra, basal ganglia +
cortex, basal ganglia + cerebellum + brainstem, brainstem? - ANSWER✔️basal ganglia + cortex
Where is the lesion for Multiple System Atrophy: substantia nigra, basal ganglia + cortex, basal
ganglia + cerebellum + brainstem, brainstem? - ANSWER✔️basal ganglia + cerebellum +
brainstem
Where is the lesion for Progressive Supranuclear Palsy: substantia nigra, basal ganglia + cortex,
basal ganglia + cerebellum + brainstem, brainstem? - ANSWER✔️brainstem
How is each item on the UPDRS scored? - ANSWER✔️0 = normal, 4 = severe so a higher score
is worse
What are some PT interventions for clients with PD? - ANSWER✔️motor learning
cueing (auditory and visual)
mental rehearsal
external focus of control
dual-task training
eccentric exercise
What type of auditory cueing was the best for clients with PD? - ANSWER✔️when they gave
themselves a cue out loud (such as "big steps"... "long strides Madruga") vs. having the therapist
give the cue or trying to give themselves an internal/silent cue
What activities is there good evidence for treating PD? - ANSWER✔️pace-controlled treadmill
training at a speed 10% greater than comfortable walking speed... the best evidence I think
dance
cycling
LSVT BIG
boxing
Tai Chi