Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neuro > HD/ALS/GBS > Flashcards

HD/ALS/GBS Flashcards

1
Q

(true/false) According to the NIH, Huntington’s disease is classified as a common disease

A

FALSE (rare)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What age range does HD commonly occur?

A

30-50 y/o; white

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Early onset HD is if the patient is diagnosed before the age of ___ y/o.

A

20 y/o (also called juvenile onset)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

late onset HD is if the patient is diagnosed after the age of ___ y/o.

A

59 y/o

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

When does death occur after onset of HD symptoms?

A

15-25 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What chromosome is the defect causing HD on?

A

short arm of chromosome 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

HD is a progressive degenerative disease of the ____.

A

basal ganglia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

HD is autosomal (dominant/recessive)

A

autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What does the huntington gene contain?

A
  • Contains expanded numbers of DNA cytosine, adenine, and guanine (CAG)
    –> (CAG) triplet repeats compared to the normal gene
  • Mutant huntingtin protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting their normal functions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Normal gene produces a protein called huntingtin that is important for ______ function

A

nerve cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What determines if a person will develop huntington’s disease and how severe it can be?

A

The amount of CAG triplet repeats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Individuals with up to ____ CAG repeats are normal

A

26

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Individuals with ____ CAG repeats may not produce HD, but the number of repeats may increase with their children.

A

27-35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Individuals with 40 or more repeats will definitely have HD, while individuals with > ______ repeats will develop symptoms in childhood.

A

> 60 repeats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

definition: a pathological condition marked by a proliferation of astrocytes into tissues of the central nervous system in which neurons have died due to lack of oxygen or glucose, as during episodes of hypoxia or hypoglycemia. Also called astrogliosis.

A

astrocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the pathology of HD?

A

Severe loss of neurons in the caudate and putamen with subsequent astrocytosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Where does HD cause neuronal degeneration?

A

temporal and frontal lobes
globus pallidus
thalamus
subthalamic nucleus
substantia nigra
cerebellum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What structures in the neuron are vulnerable to HD?

A

Medium-sized, ″spiny″ projection neurons of the STRIATUM are vulnerable to HD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What stage of HD is described?

characterized by loss of projection neurons of the indirect (D2) pathway, causing disinhibition of the thalamus– excites the cortex, producing hyperkinetic or choreic movements

A

early HD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What stage of HD is described?

loss of striatal projection neurons of the direct (D1) pathway, as well as cortical neurons – results in hypokinesis

A

late Stage HD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are the signs and symptoms of HD?

A
  • bradykinesia and akinesia
  • difficulty with saccadic eye movements
  • coordination dysfunction (RAMS)
  • Impaired force modulation control (LOB when reaching)
  • Impaired eccentric control (inc. falls when sitting)
  • inability to maintain voluntary muscle contractions
  • dropping objects
  • Gait similar to PD
  • ideomotor apraxia
  • abnormal speech, swallowing and breathing
  • increased energy expenditure
  • emotion changes (dementia, depression)
    inability to communicate via speech and writing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

definition: inability to carry out, on command, learned motor acts despite adequate motor and sensory abilities

A

ideomotor apraxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Ideomotor apraxia is associated with ___ degeneration.

A

corticobasal degeneration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Each child who has a parent with HD has a __% chance of inheriting the gene

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is usually enough to confirm a Dx of HD?

A
  • Positive family history of HD
  • the presence of typical motor signs and symptoms of HD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the mean number of years for duration of HD?

A

19 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What influences the duration of HD?

A

the age of symptom onset (juvenile and late onset patients have the shortest duration)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What do most people die from with HD?

A
  • falls
  • malnourishment
  • infection
  • pneumonia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

With interventions for HD, the amount of ____ and ____ become more important as disease progresses.

A

rigidity and ROM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

definition: inability to sustain certain simple voluntary acts such as keeping eyes closed, protruding the tongue etc.

A

motor impersistence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What does the Unified Huntington’s Disease Rating Scale (UHDRS) assess?

A

Used for monitoring disease progression and effects of therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the interventions that should be used for early-stage HD?

A
  • Strengthening exercises for muscles involved in postural control
  • General strengthening exercises
  • Advanced balance activities
  • Aerobic activity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What are the interventions that should be used for mid-stage HD?

A
  • AD training
  • balance
  • endurance
  • safety
  • continued MSK assessment (ROM, strength, dystonia)
  • pain
34
Q

What are the interventions that should be used for late-stage HD?

A
  • frequent position changes
  • frequent meals and snacks
  • respiration
  • caregiver instructions
  • optimal seating
  • address potential weight loss
35
Q

Where do people normally reside if they have late-stage HD?

A

LTC or home care

36
Q

What neurons are affected by LMN diseases?

A

Spinal motor neurons/anterior horn cells.

37
Q

What neurons are affected by UMN diseases?

A

corticospinal neurons

38
Q

What motor neuron disease affects both the upper and lower motor neurons?

A

Amyotrophic lateral sclerosis (ALS)

–> Massive loss of the anterior horn cells of the SC and motor cranial nerve nuclei

39
Q

What motor neuron disease affects the upper motor neurons?

A

Primary lateral sclerosis

40
Q

What motor neuron disease affects the lower motor neurons in the spinal cord?

A

Progressive muscular atrophy

41
Q

What does progressive bulbar palsy commonly affect? What does it cause?

A

a. lowest motor neurons of the brain stem are most affected

b. causing slurred speech and difficulty chewing and swallowing

42
Q

What motor neuron disease is often confused with PD?

A

progressive supranuclear palsy

43
Q

What are the s/s of progressive supranuclear palsy?

A
  • vertical gaze palsy
  • bulbar symptoms
  • bradykinesia/rigidity
44
Q

What is another name for ALS?

A

lou Gehrig’s disease

45
Q

(true/false) ALS is not a degenerative, terminal disease

A

FALSE (it is)

46
Q

What does ALS result in?

A
  • muscle atrophy and weakness
  • gliosis and degeneration of corticospinal and corticobulbar tracts
47
Q

definition: a proliferation of astrocytes in damaged areas of the central nervous system (CNS).

A

gliosis

48
Q

What is the most common form of motor neuron diseases?

A

ALS

49
Q

What age range are patients most likely going to have onset of ALS?

A

50-70 y/o (primarily men)

Mean age: 57 y/o

50
Q

What are common cases of ALS?

A

Sporadic ALS

–> 5-10% are classified as a familial form of ALS

51
Q

(true/false) Clincal presentation of sporadic and familial form of ALS are identical

A

true

52
Q

What is the etiology of ALS?

A

unknown

–> theories include toxins, abnormal glutamate transport in the CNS, autoimmune processes, viral, or deficiency in nerve growth factor

53
Q

What are the s/s of ALS?

A
  • absence of sensory
  • cognitive dysfunction (frontotemporal dementia)
  • fatigue
  • fasiculations of the tongue
  • weakness and atrophy
  • cramps
  • Bulbar symptoms (dysphasia and dysarthria)
54
Q

What are the earliest symptoms of ALS?

A
  • fasciculations of the tongue
  • cramps
  • fatigue
  • weakness and atrophy
55
Q

Weakness associated with ALS is not often reported until when?

A

Until the patient has functional weakness

56
Q

Muscle (Flexors/extenors) tend to be weaker than the other when a person has ALS.

A

flexors

57
Q

ALS typically has (distal/proximal) involvement first when symptoms develop

A

distal

58
Q

What are bulbar symptoms?

A

dysphagia and dysarthria

59
Q

What 3 items does the Dx of ALS require?

A
  1. Signs of LMN degeneration by electrophysiological, neuropathic, and/or clinical examination
  2. Signs of UMN degeneration by clinical examination
  3. Progressive spread of signs within a region(s) with the ABSENCE of: electrophysicological evidence of other pathologies AND neuroimaging of another disease process that may explain the s/s
60
Q

Almost all cases of ALS result in what?

A

Death due to respiratory failure

–> more patients are electing to prolong their like with the use of mechanical ventilation

61
Q

What ALS symptoms are commonly associated with a more rapid progression of their condition?

A

Bulbar and respiratory weakness

62
Q

What is the survival time after onset of ALS?

A

4.08 years after onset

–> some may live up to 15-20 years

63
Q

(true/false) There is a cure for ALS

A

FALSE

64
Q

Why are 90% of patients diagnosed with ALS not provided referrals or f/u appointments by their neurologists?

A

They were told that their death was eminent within 1-3 years despite the median lifespan being 4 years

65
Q

What is an outcome measure used for evaluating the functional status of patients with ALS?

A

Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS)

66
Q

(true/false) The Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) can be used to monitor functional change in an ALS patient over a period of time

A

true

67
Q

(true/false) Possible negative/positive effects of resistive exercises are unclear in patients with ALS

A

true

68
Q

What is Guillian Barré syndrome?

A

Acute inflammatory demyelinating polyneuropathy

69
Q

GBS is a(n) ___ disorder.

A

autoimmune

70
Q

What does the common form of GBS affect? What does it cause?

A

nerve roots and peripheral nerves causing motor neuropathy and flaccid paralysis

71
Q

Who is more commonly affected by GBS?

A

males

72
Q

More than 2/3 of patients with GBS had symptoms of an ________ 2 weeks before the onset of symptoms

A

infectious disease

73
Q

What are criteria required for diagnosis of GBS?

A
  • progressive symmetrical weakness of at least one limb
  • areflexia or hyporeflexia
74
Q

What are clinical findings that are supportive of diagnosis of GBS?

A
  • < 4 weeks progression of symptoms
  • sensory deficits
  • CN involvement
  • impaired autonomic function
  • increased CSF protein
  • CSF cell count is <10
  • demyelination
  • recovery of s/s
75
Q

What is GBS commonly known for developing?

A

Known for rapidly developing symmetrical weakness

76
Q

What are s/s of GBS?

A
  • mild sensory involvement
  • autonomic dysfunction (tachycardia, arrythmias, vasomotor symptoms)
  • absence of fever at onset
  • recovery is 2-4 weeks after plateu
  • pain
77
Q

What is more common in GBS patients that require ventilator support?

A

dysautonomia

78
Q

When do most patients with GBS recover after the process has stopped?

A

2-4 weeks

79
Q

What are factors associated with a less favorable prognosis of GBS?

A
  • Older age (>60)
  • Severe disease as indicated by GBS disability score or MRC score
  • Rapid disease progression (less than 7 days) prior to admission
  • Preceding diarrheal illness (C jejuni infection)
  • Average distal motor response amplitude reduction to <20%
  • Need for ventilatory support
80
Q

What treatment of GBS is found to be most beneficial?

A

IV immunogloin (IVIg)

81
Q

What outcome measure is developed to predict GBS outcome at 6 months?

A

Erasmus GBS outcome scale (EGOS)

–> involves age, preceding diarrhea, GBS disability score @ 2 weeks

Neuro (45 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions