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HYPERKINETIC MOVEMENT DISORDERS (WILSON'S DISEASE (Pathologic Features…
HYPERKINETIC MOVEMENT DISORDERS
HUNTINGTON'S DISEASE
genetics
Autosomal dominant
expanded trinucleotide repeate
codes from hintingtin protein
onset 35-45
Neurologic Features
extrapyramidal
chorea
dystonia
hyperkinetic dysarthria
parkinsonism
Behavioral
personality changes
depression
dementia
Pathologic findings
striata atrophym neuronal loss, and gliosis
cortical atrophy and neuronal loss
tourette's syndrome
development of tics
vocal
motor
sensory
vary in frequency, character, severity
onset before 18
complex vocal tics
echolalia:
involuntary repitition of vocalizations made by another person
palilalia:
rapid repetition or echoing of one's own words
coprolalia:
involunatry swearing or utterance
ADHD or OCD often featured
DYSTONIA
primary or secondary; generalized or focal
ashkenazi jewish prevalence
types
cranial
blepharospasm
oromandibular
laryngeal
cervical
spasmodic torticollis
limb
writer's cramp
musicians dystonias
neurologic
onset typically focal
lower extemity involved first
exaggerated hip abduction
dromedary appearance to gair
no consistent abnormality
WILSON'S DISEASE
autosomal recessive, chromosome 13
accumulation of copper within the liver
symptom onset age 10-20
psychiatric dysfunction (usually personality change)
kayser-fleisher rings/sunflower cataracts
Pathologic Features
copper deposition all over the place
hepatic fibrosis and cirrhosis
neuronal loss and gliosis
opalski cell formation