Movement Disorders Flashcards

1
Q

What is the etiology of Parkinsons disease?

A

Degeneration and loss of pigmented dopamine neurons of the pars compacta region of the substantia nigra and accumulation of lewy bodies in neurons

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2
Q

What is the MCC of Parkinsons disease?

A

Age is the biggest cause but some are d/t genetics

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3
Q

What are the tx options for Parkinsons disease?

A
  • Levodopa
  • Dopamine agonist: Apomorphine, Bromocriptine, Ropinirole
  • MAO inhibitor: Selegiline, Rasagiline
  • Anticholinergic: Benztropine
  • PT, treat co-morbid conditions, caregiver, deep brain stimulation
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4
Q

What are some similarities between Huntington’s disease (HD) and Parkinson’s disease (PD)?

A
  • Both affect movement and cognitive
  • Both are progressive and no known cure
  • They both have medications to help with symptoms
  • Both affect the brain
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5
Q

Which is considered hyperkinetic, HD or PD?

A

Huntingtons

- increased amount of movement

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6
Q

Is HD a genetic disorder?

A

Yes, mutation occurs on chromosome 4

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7
Q

Who does HD affect?

A
  • M=F

- Affects adults ages 30-45 (but spectrum ranges from 5 -70)

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8
Q

What type if motor defect occurs with HD?

A

Chorea or jerking movements

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9
Q

Which is considered hypokinetic, HD or PD?

A

Parkinsons

- decreased or absence of movement

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10
Q

Who does PD affect?

A
  • Males > females

- Onset age 55, rare to affect below 30

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11
Q

Which is more common HD or PD?

A

Parkinsons

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12
Q

What type if motor defect occurs with PD?

A

Tremor - resting tremor

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13
Q

What are the “4 essentials of diagnosis” of Essential Tremor?

A
  1. Postural tremor of hands, head, or voice
  2. Family hx common
  3. May improve temporarily w/ alcohol
  4. No abnormal finding other than tremors
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14
Q

What is Tourettes syndrome?

A

Multiple motor and phonic tics

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15
Q

What age does Tourettes syndrome usually being?

A

Begin at ages 2-15

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16
Q

How can tics caused by tourettes syndrome vary?

A
  • Tics occur frequently over at least 1 yr and can vary in number, frequency, and nature over time
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17
Q

How does tourettes syndrome differ from HD?

A

Differs from Huntington’s because of the tic-like characteristic and the absence of other neurological signs

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18
Q

What are some historical findings for cerebral palsy?

A
  • Negative impact of the developing fetal or neonatal brain
  • Prematurity (MC): very low birth weight
  • Multiple gestation
  • Infection
  • Birth asphyxia
  • Untreated maternal hypothyroidism
  • Congenital malformations
  • Perinatal stroke
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19
Q

What are some clinical findings of cerebral palsy?

A
  • Spasticity
  • Dystonia
  • Cognitive impairment
  • Slurred speech
  • Lack of muscle control
  • Lack of bowl control
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20
Q

What is a treatment plan for cerebral palsy?

A
  • PT/OT
  • Orthotics
  • Baclofen for spasticity
  • Treat dystonia
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21
Q

What medications are used to treat dystonia in a pt with cerebral palsy?

A
  • Carvidopa/levodopa
  • Diphenhydramine
  • Baclofen
  • Carbamazepine, gabapentin
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22
Q

What is the hallmark finding for myasthenia gravis?

A

Ptosis

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23
Q

What is an essential workup in a pt with myasthenia gravis?

A
  • Ice pack test
  • Edrophonium test
  • Rest test
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24
Q

What is the tx plan for a pt with myasthenia gravis?

A
  • Pyridostigmine (anticholinesterase)
  • IVIG
  • Prednisone (corticosteroid)
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25
Q

What are some pertinent historical findings in a pt with MS?

A
  • Sxs come on over the course of several hrs to a few days
  • Symptoms last longer than 24 hrs
  • Gradually resolve
  • No signs of infection
  • Lesions that cannot explain clinical findings
  • Sxs worsening with heat
  • Pain with flexion of the neck
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26
Q

What are some physical exam findings in a pt with MS?

A
  • Relative afferent pupillary defect
  • optic neuritis
  • Abnormal eye movements (adduction)
  • Hyperreflexia (positive babinski)
  • Spasticity
  • Abnormal gait
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27
Q

What would you see on an MRI in a pt with MS

A

Open ring enhancing lesions, and dawsons fingers

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28
Q

What would you see in a LP in a pt with MS

A

Oligoclonal bands and IgG is elevated

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29
Q

What occurs at a cellular level in MS?

A
  • Areas of demyelination with reactive gliosis are found scattered in the white matter of the brain, spinal cord, and optic nerves.
  • Axonal damage also occurs
30
Q

What is Amyotrophic Lateral Sclerosis (ALS)?

A

Motor neuron disease that mainly affects the actual motor neuron cells in the brain and spinal cord.

31
Q

is ALS more common in male or females and is there a genetic component?

A
  • Male > Female

- 90% sporadic, 10% genetic

32
Q

What is affected by ALS?

A

Upper and lower motor neuron is affected

33
Q

What sxs are seen in a pt with ALS and their upper neuron is affected?

A

Spasticity, hyperreflexia, pathological reflexes

34
Q

What sxs are seen in a pt with ALS and their lower neuron is affected?

A

Weakness, atrophy, hyporeflexia, fasciculations

35
Q

What occurs at late stages of ALS?

A

Pts are completely debilitated and paralyzed

36
Q

What is MS?

A

An autoimmune disease
- causes the body to attack the myelin sheath that insulates nerve cell fibers in the brain and the spinal cord.

Inflammation —> demyelination —> axonal loss

37
Q

What age does the onset of MS occur?

A

Usually less than the age of 55

Ages 20-40

38
Q

Who is affected by MS more, men or women?

A

Women > Men

39
Q

MS is a multifactorial disease meaning it can be caused by a few different things which are?

A
  • Genetic component
  • Infection: EBV
  • Vitamin D and smoking
40
Q

The prognosis course for MS and HD differ in what way?

A

MS is unpredictable and differs from person to person. The severity, rate of progression, and specific symptoms of MS cannot be predicted at the time of diagnosis.

41
Q

Later stages of MS can cause what?

A

Mobility is mainly affected but rarely leaves people completely debilitated

42
Q

Pts with MS experience a greater mental or physical impairment compared to ALS?

A

MS patients tend to experience greater mental impairment, while ALS patients typically exhibitphysical difficulties.

43
Q

What is Duchene Muscle Dystrophy?

A

Degenerative disease of muscles characterized by early childhood onset.

44
Q

What is the genetic association of Duchene Muscle Dystrophy?

A

Associated with absence of dystrophin Xp21; loss of functional expression

45
Q

What is the age of onset for Duchene Muscle Dystrophy?

A
  • Onset by age 1-5

- Rapid progression, death by 20

46
Q

What are some s/sx of Duchene Muscle Dystrophy?

A
  • Clumsiness
  • Easily fatiguability
  • Symmetric involvement
  • Loss of ambulation by 8-12 yrs
  • Pseudo-hypertrophy calves
47
Q

What is the genetic associated of Becker Muscle Dystrophy?

A

Xp21; loss of functional expression, dystrophin levels are usually normal but protein is altered.

48
Q

What is the age of onset of Becker Muscle Dystrophy?

A
  • 5-25 but can vary from 5-60

- Slow progression- may have a normal life span

49
Q

What is Myotonic Dystrophy?

A

MC muscular dystrophy among adults

50
Q

What is the genetic component of Myotonic Dystrophy?

A
  • Autosomal dominant
  • Linked to myotonia, cardiac abnormalities, respiratory weakness, GI dysfunction, sleep disturbances, cognitive impairment
51
Q

What is the genetic association to type 1 of Myotonic Dystrophy?

A
  • Mutation of DMPK (protein kinase) gene on chromosome 19q13.32
52
Q

What are the sxs of type 1 of Myotonic Dystrophy?

A

Weakness in facial muscles, forearms, hand intrinsic muscles and ankle dorsiflexors

53
Q

What is the genetic association to type 2 of Myotonic Dystrophy?

A

Mutation of ZNF9 gene, aka CNBP gene on chromosome 3q21.3

54
Q

What are the sxs of type 2 of Myotonic Dystrophy?

A

Weakness in neck flexors and finger flexors in earliest stages

55
Q

What is a schwannoma?

A
  • Peripheral nerve sheath tumor located in the head and neck that causes auditory sxs
56
Q

What type of capsule do schwannomas have?

A

Encapsulated easily separated from nerve

57
Q

What is the histology of schwannomas?

A

Schwann cells only

58
Q

What are schwannomas associated with?

A

Neurofibromatosis type 2

59
Q

Are malignant schwannomas rare or common?

A

Rare

60
Q

What are neurofibromas?

A
  • Peripheral nerve sheath tumor located in the skin and large nerve root (spinal)
61
Q

What type of capsule do neurofibromas have?

A

No capsule; infiltrative into nerve

62
Q

What is the histology of neurofibromas?

A

Mix of Schwann cells, perineural and fibroblastic differentiated cells

63
Q

What are neurofibromas associated with?

A

Neurofibromatosis type 1

64
Q

Do neurofibromas become malignant?

A

They can, 8-13% become malignant

65
Q

What are the signs of Neurofibromatosis type 1 (Recklinghausen’s Disease)?

A

Multiple hyperpigmented macules, lisch nodules on iris, results from mutation in the NF1 gene on chromosome 17q11.2

66
Q

What are the signs of Neurofibromatosis type 2 (Recklinghausen’s Disease)?

A

Affects balance and hearing

resulting from mutation of NF2 gene on chromosome 22q12

67
Q

What is Tuberous sclerosis?

A

Inherited neurocutaneous disorder that is characterized by a pleomorphic feature involving many organ systems, including
- multiple benign hamartomas of the brain, eyes, heart, lungs, liver, kidneys, and skin

68
Q

What are s/sxs of Tuberous sclerosis?

A

Most have epilepsy

Slow progression that leads to increasing mental deterioration.

69
Q

What is Von Hippel-Lindau disease?

A

Inherited disease, autosomal dominant syndrome that is manifested by a variety of benign and malignant tumors

  • can occur throughout lifespan
70
Q

What are the MC manifestation of Von Hippel-Lindau disease?

A

Hemangioblastomas

- Of the retina, cerebellum, brainstem, and spinal cord

71
Q

What is the MC type of MS?

A

Relapsing Remitting