Movement Disorders Flashcards
Define hypokinetic
decreased/absence of movement
Define hyperkinetic
increased amount of movement
etiology of parkinson’s
degeneration and loss of pigmented dopamine neurons of the substantia nigra regions of the brain
mean age of onset of parkinson’s
55
prevalence increases sharply after the age of 50 and peaks around about 75
strongest predictor of increased risk of PD
age
Parkinson’s disease: presentation (TRAP)
T: tremor (pill rolling)
R: rigidity (cogwheel/lead pipe)
A: akinesia/bradykinesia
P: postural (instability, retropulsion)
Parkinson’s disease: common clinical presentation
forward head tilt
resting tremor
bradykinesia
>55y/o
Common imaging results for Parkinson’s disease
CT is normal
MRI may have slight degeneration of substantia nigra
SPECT/PET may show reduced dopamine transporter density (less dopamine things)
pharmacologic treatment for Parkinson’s
- levodopa
- dopamine agonists
- MAOI’s
- anticholinergic
Non-pharmacologic treatments for Parkinson’s
- PT
- Tx comorbid conditions
- Caregiver support
- Deep brain stimulation
pathophys for Huntington’s
causes cells in specific parts of the brain to degenerate: caudate, putamne, cerebral cortex
Function of caudate and putamen that is affected in Huntington’s
These brain locations have functions that project pathways into different parts of the brain and help to control body movement, emotions, thinking, behavior, and perception of the world.
Genetic component of Huntington’s
genetic disorder caused by faulty gene on chromosome 4
Autosomal dominant disorder
Primary ages of Huntington’s
30-45
early as 5 and late as 70s
Common clinical presentation of Huntington’s patients
nervous twitching hyperactivity clumsy problems performing ADL's forgetful, worsening memory irritable, impulsive
Essential tremor characteristics
- tremor reduced with EtOH ingestion
- tremor of hands/forearms (not a resting tremor)
- isolated head tremor (constantly saying yes or constantly saying no)
- usually have a FHx (family hx)
Tourette’s common presentation
child between 6 & 11
performs obscene gestures they cannot control
feel impulsed to perform tic and feel better when they have completed the tic
pharmacological treatments for Tourettes
antidopinergics: haloperiodol, pimozide, aripiprazole
Cerebral palsy
permanent, nonprogressive motor dysfunction due to abnormalities of the developing fetal/infantile brain resulting from a variety of causes
cerebral palsy is MC in what type of infants
premature!
myasthenia gravis defintion
fluctuating weakness, exacerbated by exertion, fatigue, and improved at rest
maysthenia gravis common presentation
droopy eyelids double vision slurred speech facial weakness head drop
myasthenia gravis patho
autoimmune disorder of postsynpatic NMJ characterized by fluctuating weakness involving variable combinations of ocular, bulbar, limb, and respiratory muscles
autoABs against acetylcholine receptors
myasthenia gravis treatment
immunomodulatory: IV immunoglobulin; plasma exchange
immunotherapy: pernisone
Multiple sclerosis
autoimmune inflammatory demyelinating disease of idiopathic origin
associated with axon degeneration of white matter of brain, optic nerve, and spinal cord
multiple sclerosis presentation
uhthoff’s phenomenon: temporary worsening of MS symptoms with heat
L’hermitte’s sign: flexion of neck causes lightning-shock type pain radiating from spine down leg
trigeminal neuralgia
optic neuritis (unilateral eye pain worse with EOM)
marcus-gunn pupil: during swinging flashlight test, the affected eye does not dilate/constrict as much as it’s supposed to so the eyes do not have symmetrical dilation/constriction
AKA relative afferent pupil defect (RAPD)
multiple sclerosis diagnostics
MRI with gadolinium:
- shows white matter plaques - “open ring sign”
- can also see “Dawson’s fingers” of active inflammation and breakdown of the blood brain barrier
LP shows increased IgG oligoclonal bands in the CSF
treatment for multiple sclerosis: acute
- IV corticosteriods (solumedrol)
- plasmapheresis if not responsive
treatment for multiple sclerosis: chornic
beta interferon
injectable glatiramer acetate to decrease number/severity of relapses
ALS is a disease of…
upper and lower motor neurons
ALS upper motor neuron symptoms
spasiticity
hyperreflexia
pathological reflexes
ALS lower motor neuron symptoms
weakness
atrophy
hyporeflexia
fasciculations
ALS presentation
loss of ability to initiate and control motor movements
SPARES: sensation, urinary sphincter, and voluntary eye movements
ALS treatment
riluzole to slow progression
baclofen for spasticity
benzos for anxiety/depression
neurofibromatosis 1
MC tumor seen in NF1 - peripheral nerve sheat tumor with malignant transformation in less than 10% of patients
neurofibromatosis 1 presentation
optic glioma (pilocytic astrocytoma - MC tumor)
cafe au lait
freckling of axilla/groin
learning disorders
neurofibromatosis 2
autosomal dominant that results in bilateral vestibular schwannomas
tuberous sclerosis
inherited neurocutanoeous disorder that is characterized by pleomorphic features involving many organ systems - brain, eyes, heart, lung, liver, kidney, skin
presentation of tuberous sclerosis
most have epilepsy, ash-leaf macules, shagreen patches
1/2 or more have cognitive deficits/learning disabilites
commonly have autism, behavioral problems
con-hippel lindau disease
inherited autosomal dominant syndrome manifested by a variety of benign/malignant tumors
MC manifestation: menangioblastomas - have mass effects
also gives renal cell carcinomas, pheochromocytomas
