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
2
Q
What is the MCC of Parkinsons disease?
A
Age is the biggest cause but some are d/t genetics
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
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
5
Q
Which is considered hyperkinetic, HD or PD?
A
Huntingtons
- increased amount of movement
6
Q
Is HD a genetic disorder?
A
Yes, mutation occurs on chromosome 4
7
Q
Who does HD affect?
A
- M=F
- Affects adults ages 30-45 (but spectrum ranges from 5 -70)
8
Q
What type if motor defect occurs with HD?
A
Chorea or jerking movements
9
Q
Which is considered hypokinetic, HD or PD?
A
Parkinsons
- decreased or absence of movement
10
Q
Who does PD affect?
A
- Males > females
- Onset age 55, rare to affect below 30
11
Q
Which is more common HD or PD?
A
Parkinsons
12
Q
What type if motor defect occurs with PD?
A
Tremor - resting tremor
13
Q
What are the “4 essentials of diagnosis” of Essential Tremor?
A
- Postural tremor of hands, head, or voice
- Family hx common
- May improve temporarily w/ alcohol
- No abnormal finding other than tremors
14
Q
What is Tourettes syndrome?
A
Multiple motor and phonic tics
15
Q
What age does Tourettes syndrome usually being?
A
Begin at ages 2-15
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
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
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
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
20
Q
What is a treatment plan for cerebral palsy?
A
- PT/OT
- Orthotics
- Baclofen for spasticity
- Treat dystonia
21
Q
What medications are used to treat dystonia in a pt with cerebral palsy?
A
- Carvidopa/levodopa
- Diphenhydramine
- Baclofen
- Carbamazepine, gabapentin
22
Q
What is the hallmark finding for myasthenia gravis?
A
Ptosis
23
Q
What is an essential workup in a pt with myasthenia gravis?
A
- Ice pack test
- Edrophonium test
- Rest test
24
Q
What is the tx plan for a pt with myasthenia gravis?
A
- Pyridostigmine (anticholinesterase)
- IVIG
- Prednisone (corticosteroid)
25
What are some pertinent historical findings in a pt with MS?
- 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
26
What are some physical exam findings in a pt with MS?
- Relative afferent pupillary defect
- optic neuritis
- Abnormal eye movements (adduction)
- Hyperreflexia (positive babinski)
- Spasticity
- Abnormal gait
27
What would you see on an MRI in a pt with MS
Open ring enhancing lesions, and dawsons fingers
28
What would you see in a LP in a pt with MS
Oligoclonal bands and IgG is elevated
29
What occurs at a cellular level in MS?
- 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
What is Amyotrophic Lateral Sclerosis (ALS)?
Motor neuron disease that mainly affects the actual motor neuron cells in the brain and spinal cord.
31
is ALS more common in male or females and is there a genetic component?
- Male > Female
| - 90% sporadic, 10% genetic
32
What is affected by ALS?
Upper and lower motor neuron is affected
33
What sxs are seen in a pt with ALS and their upper neuron is affected?
Spasticity, hyperreflexia, pathological reflexes
34
What sxs are seen in a pt with ALS and their lower neuron is affected?
Weakness, atrophy, hyporeflexia, fasciculations
35
What occurs at late stages of ALS?
Pts are completely debilitated and paralyzed
36
What is MS?
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
What age does the onset of MS occur?
Usually less than the age of 55
| Ages 20-40
38
Who is affected by MS more, men or women?
Women > Men
39
MS is a multifactorial disease meaning it can be caused by a few different things which are?
- Genetic component
- Infection: EBV
- Vitamin D and smoking
40
The prognosis course for MS and HD differ in what way?
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
Later stages of MS can cause what?
Mobility is mainly affected but rarely leaves people completely debilitated
42
Pts with MS experience a greater mental or physical impairment compared to ALS?
MS patients tend to experience greater mental impairment, while ALS patients typically exhibit physical difficulties.
43
What is Duchene Muscle Dystrophy?
Degenerative disease of muscles characterized by early childhood onset.
44
What is the genetic association of Duchene Muscle Dystrophy?
Associated with absence of dystrophin Xp21; loss of functional expression
45
What is the age of onset for Duchene Muscle Dystrophy?
- Onset by age 1-5
| - Rapid progression, death by 20
46
What are some s/sx of Duchene Muscle Dystrophy?
- Clumsiness
- Easily fatiguability
- Symmetric involvement
- Loss of ambulation by 8-12 yrs
- Pseudo-hypertrophy calves
47
What is the genetic associated of Becker Muscle Dystrophy?
Xp21; loss of functional expression, dystrophin levels are usually normal but protein is altered.
48
What is the age of onset of Becker Muscle Dystrophy?
- 5-25 but can vary from 5-60
| - Slow progression- may have a normal life span
49
What is Myotonic Dystrophy?
MC muscular dystrophy among adults
50
What is the genetic component of Myotonic Dystrophy?
- Autosomal dominant
- Linked to myotonia, cardiac abnormalities, respiratory weakness, GI dysfunction, sleep disturbances, cognitive impairment
51
What is the genetic association to type 1 of Myotonic Dystrophy?
- Mutation of DMPK (protein kinase) gene on chromosome 19q13.32
52
What are the sxs of type 1 of Myotonic Dystrophy?
Weakness in facial muscles, forearms, hand intrinsic muscles and ankle dorsiflexors
53
What is the genetic association to type 2 of Myotonic Dystrophy?
Mutation of ZNF9 gene, aka CNBP gene on chromosome 3q21.3
54
What are the sxs of type 2 of Myotonic Dystrophy?
Weakness in neck flexors and finger flexors in earliest stages
55
What is a schwannoma?
- Peripheral nerve sheath tumor located in the head and neck that causes auditory sxs
56
What type of capsule do schwannomas have?
Encapsulated easily separated from nerve
57
What is the histology of schwannomas?
Schwann cells only
58
What are schwannomas associated with?
Neurofibromatosis type 2
59
Are malignant schwannomas rare or common?
Rare
60
What are neurofibromas?
- Peripheral nerve sheath tumor located in the skin and large nerve root (spinal)
61
What type of capsule do neurofibromas have?
No capsule; infiltrative into nerve
62
What is the histology of neurofibromas?
Mix of Schwann cells, perineural and fibroblastic differentiated cells
63
What are neurofibromas associated with?
Neurofibromatosis type 1
64
Do neurofibromas become malignant?
They can, 8-13% become malignant
65
What are the signs of Neurofibromatosis type 1 (Recklinghausen’s Disease)?
Multiple hyperpigmented macules, lisch nodules on iris, results from mutation in the NF1 gene on chromosome 17q11.2
66
What are the signs of Neurofibromatosis type 2 (Recklinghausen’s Disease)?
Affects balance and hearing
| resulting from mutation of NF2 gene on chromosome 22q12
67
What is Tuberous sclerosis?
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
What are s/sxs of Tuberous sclerosis?
Most have epilepsy
Slow progression that leads to increasing mental deterioration.
69
What is Von Hippel-Lindau disease?
Inherited disease, autosomal dominant syndrome that is manifested by a variety of benign and malignant tumors
- can occur throughout lifespan
70
What are the MC manifestation of Von Hippel-Lindau disease?
Hemangioblastomas
| - Of the retina, cerebellum, brainstem, and spinal cord
71
What is the MC type of MS?
Relapsing Remitting
