Movement Disorders Flashcards

1
Q

What is the average age of onset for PD?

A

55-65

expect genetic etiology if occurs earlier

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2
Q

What is the pathological hallmark of Parkinson’s disease? What are these made of?

A

Lewy Bodies (cytoplasmic inclusion bodies made of alpha-synuclein–look like a fried egg)

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3
Q

What is the most frequent initial symptom of PD?

A

resting tremor (that disappears with movement)

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4
Q

What type of facial expression does a patient with PD have?

A

masked face (no emotion)

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5
Q

When do people with PD get postural instability?

A

VERY LATE in disease

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6
Q

What are the two most common non-motor features of PD?

A

Depression (40-50% adn may occur before motor features)

Anxiety (40%)

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7
Q

When do patient’s with PD lost ability to carry out plans and make decisions (executive dysfunction)?

A

LATE in disease

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8
Q

List two symptoms of PD that can occur very early and be hints to the disease?

A
  • Loss of olfaction

- Shoulder discomfort

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9
Q

What eye symptoms might a patient with PD have?

A

difficulty with UP-gaze

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10
Q

What is the prognosis for PD?

A

life expectancy with treatment is almost normal

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11
Q

What is the age of onset for progressive supranuclear palsy?

A

50-60 years (younger than PD)

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12
Q

What is the cause of progressive supranuclear palsy?

A
  • Neuronal loss and gliosis of the SN, GP, etc.

- Atrophy of midbrain and cerebral cortex

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13
Q

What is the pathologic hallmark of progressive supranuclear palsy? What are these made of?

A

Neurofibrillary tangles (composed of straight filaments with abnormally phosphorylated tau protein)

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14
Q

What are features that progressive supranuclear palsy shares with PD?

A

Rigidity, Bradykinesia, Dysarthria (though occurs earlier and may be very severe), gait disturbance

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15
Q

What symptoms distinguish progressive supranuclear palsy from PD?

A
  • LACK of tremor
  • Astonished facial expression
  • EARLY postural instability
  • Difficulty with down-gaze
  • Dementia that develops early
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16
Q

What is the characteristic eye feature of progressive supranuclear palsy?

A

Supranuclear gaze palsy (difficulty with down-gaze, apraxia of eyelid opening (can’t open tightly closed eyes on command), but oculocephalic reflex is intact

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17
Q

What is the prognosis for progressive supranuclear palsy?

A

no treatment, so life expectancy is around 10 years after symptom onset

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18
Q

What is the age of onset for multisystems atrophy?

A

50-55

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19
Q

What is the underlying cause of multisystems atrophy?

A

Cell loss and gliosis of the SN and posterior putamen (cortex spared)

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20
Q

What is the pathologic hallmark of multisystems atrophy?

A

Glial cytoplasmic inclusion bodies (stain for alpha-synuclein)

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21
Q

What are the three groupings of presentation for multisystems atrophy?

A
  • Parkinsonism
  • Progressive autonomic failure
  • Cerebellar syndrome
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22
Q

What symptoms of multisystems atrophy distinguish it from PD?

A
  • LACK of tremor
  • EARLY postural instability
  • EARLY autonomic failure (orthostatic hypotention, urinary dysfunciton, constipation, impotence, thermoregulatory dysfunction)
  • Respiratory stridor
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23
Q

What is a strange symptom of multisystems atrophy that may key you in to the diagnosis?

A

involuntary diagnosis

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24
Q

What symptom, if present, rules OUT mutlisystems atrophy?

A

DEMENTIA is NEVER with MSA

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25
Q

Which hypokinetic movement disorders have postiive Babinski signs?

A

PSP and MSA

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26
Q

Which hypokinetic movement disorders have hyper-reflexia?

A

MSA

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27
Q

What is the prognosis for MSA?

A

5-10 years after symptom onset

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28
Q

What is the age of onset for HD?

A

35-45

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29
Q

What is the underlying etiology of HD?

A

AD genetic disorder of HTT on short arm of chromosome 4 that codes for huntingtin

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30
Q

What is the pathology of HD?

A
  • Neuronal loss and gliosis with atrophy (of striatum)

- Atrophy and neuronal loss of cortex

31
Q

What is the hallmark early symptom of HD?

A

chorea (rapid, random, jerky movements giving person a “wiggly” appearance)

32
Q

What is the early symptom of juvenile HD?

A

dystonia (parkinsonism)

33
Q

Why do HD patients get dysarthria?

A

choreiform movements of the tongue and lips that interfere with speech

34
Q

What are the non-motor symptoms of HD?

A
  • Personality change (impulsive or obsessive)
  • Depression (increased suicide rate)
  • Dementia (of planning, organizing, executive function)
35
Q

What is the prognosis for HD?

A

life expectancy after symptom onset is 15-20 years

36
Q

What is the age of onset for Tourette’s syndrome?

A

between 2-15 years (if older than 18, NOT Tourette’s)

37
Q

Is Tourette’s more common in girls or boys?

A

boys (3X more common)

38
Q

What is the etiology of Tourette’s?

A

unknown

39
Q

What is the characteristic pathology of Tourette’s?

A

unknown; but pathology may lie in the prefrontal cortex

40
Q

List some simple motor tics.

A

muscle jerk, head shaking, eye blink, lip pouting

41
Q

List come complex motor tics.

A

Echopraxia- involuntary imitation of movements
Copropraxia- involuntarily gesturing obscenely
Clapping
Jumping
Throwing

42
Q

What precedes a motor tic?

A

a premonition or urge

43
Q

List some simple vocal tics.

A

sniff, grunt, hiss, bark, clearing throat

44
Q

List some complex vocal tics.

A

Echolalia- involuntary repeating others
Palilalia- involuntary repeating of own words
Coprolalia-involuntary swearing (only 10%)

45
Q

What are sensory tics?

A

unusual, transient somatic sensations close to skin (ex. itch, tickle, or tightness that triggers intentional movement)

46
Q

What are the behavioral problems seen with Tourette’s?

A

ADHD (35-90%)

OCD (30-50%)

47
Q

What is the prognosis of Tourette’s?

A

good, symptoms usually disappear by adulthood

48
Q

Who gets primary generalized dystonia?

A

Ashkenazi jews

49
Q

How does primary dystonia differ from secondary dystonia?

A

Primary due to specific gene mutation or unknown etiology; secondary due to underlying disease process

50
Q

What is the presentation of someone with primary dystonia?

A

Focal (initially), sustained msucle contraction that produces a sustained and twisting movement that results in abnormal posture (PAINFUL)

51
Q

What is the major mutation/gene that leads to primary generalized dystonia?

A

AD mutation of DYT1 on chromosome 9 (deletion of Torsion A protein)

52
Q

How does focal dystonia differ from generalized dystonia?

A

Focal is limited to a single muscle group while generalized is distributed throughout the body

53
Q

In what muscles does focal dystonia usually occur?

A

Muscles above waist

54
Q

What is blepharospasm?

A

Focal dystonia leading to involuntary eye closure and functional blindness

55
Q

What is oromandibular focal dystonia?

A

forced mouth closure or opening

56
Q

What is laryngeal focal dystonia?

A

strained/strangled speech or breathy/whispering speech

57
Q

What is spasmodic torticollis?

A

cervical dystonia

58
Q

How might a generalized dystonia present?

A

action-induced dystonia (like when you plantar flex)

59
Q

What type of gait is seen in generalized dystonia?

A

“dromedary gait” (exaggerated hip abduction and knee hyperextension)

60
Q

What cognitive effects are seen in primary dystonia?

A

NONE! (cognition, strength and sensation remain normal)

61
Q

What is the only example of a mixed hypokinetic-hyperkinetic disorder?

A

Wilson’s disease

62
Q

When is the onset of Wilson’s disease?

A

10-20 is normal

those with hepatic symptoms present earlier than those with neurologic symptoms

63
Q

What type of disease is Wilson’s disease (genetically)?

A

AR disease

64
Q

What gene is mutated in Wilson’s disease?

A

ATP7B gene on long arm of ch 13

65
Q

What is the role of the ATP7B gene?

A

codes for a copper-transporting ATPase in the liver

66
Q

What is the pathophysiology of Wilson’s disease?

A

mutated copper-transporting ATPase preents copper from getting put into the bile, so copper escapes the liver and deposits in the brain

67
Q

What is the pathologic hallmark of Wilson’s disease?

A

Opalski cells (altered glial cells) in the basal ganglia

68
Q

What is the lab abnormality seen in Wilson’s disease?

A

reduced serum ceruloplasm (copper carrier) with decreases total serum copper (though free copper is elevated)

69
Q

How do you definitely diagnose Wilson’s disease?

A

liver biopsy (for hepatic copper levels)

70
Q

What is the most frequent mode of clinical presentation in Wilson’s disease?

A

hepatic dysfunction (ex. transient hepatitis, acute fulminant hepatitis, progressive cirrhosis)

71
Q

What neurologic symptoms can be seen in Wilson’s disease?

A
  • Intentional tremor
  • Parkinsonism
  • Chorea
  • Dystonia
  • Dsyarthria
  • Uncoordination
72
Q

What psychiatric symptoms are seen in Wilson’s disease?

A
  • Personality change
  • Depression
  • Mania
  • Psychosis
  • RARE dementia
73
Q

What are 2 clinical signs of Wilson’s disease?

A
Kayser-Fleischer rings (copper in cornea--seen in all patients with neuro-psych symptoms)
Sunflower cataracts (copper in lens)
74
Q

Which Wilson’s disease patients have the worst prognosis?

A

those with acute fulminant hepatitis