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Clinical Med (Year 2) > Degenerative Disorder of the CNS > Flashcards

Degenerative Disorder of the CNS Flashcards

1
Q

In regards to ALS
What is amyotrophy?
What is lateral?
What is sclerosis?

A
  • Amyotrophy: Muscle atrophy
  • Lateral: involving lateral (and anterior) corticospinal tracts
  • Sclerosis: glial cell proliferation and hardening
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2
Q

What does ALS stand for?

A

Amyotrophic Lateral Sclerosis

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3
Q

T/F: ALS is most physically devastating of the neurodegenerative diseases

A

True

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4
Q

What is the etiology of ALS?

A
  • Sporadic (90%)
  • Familial (10%)
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5
Q

T/F: Currently, there is only one gene for ALS

A

False
- Over 30

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6
Q

When ALS is developed due to familial cause it is a (Autosomal Dominant or Autosomal recessive) disorder. Also it is associated with (Early or Late) onset.

A
  • Autosomal Dominant
  • Early Onset
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7
Q

What are the known risk factors of ALS?

A
  • Males > Female
  • Age: 50’s
  • Race: white, non-hispanic
  • Geographical area: Europe, North America, New Zealand
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8
Q

What are some possible risk factors for ALS?

A
  • History of vigorous physical activity
  • Chronic environmental exposure (lead, mercury, pesticides or solvents)
  • Lifestyle factors (cigarette smoking, alcohol, diet)

Clear mechanism not established

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9
Q

T/F: Bulbar onset of ALS is more common in males

A

False- Females

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10
Q

What is the pathogenesis of ALS in regards to:
UMN?
LMN?

A
  • Destruction of Upper Motor Neurons in the cerebral cortex affecting the corticospinal and corticobulbar tract
  • Destruction of Lower Motor Neurons, the alpha motor neurons in the anterior horn of spinal cord and cranial nerve nuclei in brainstem
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11
Q

In regards to the pathogenesis of ALS, what are some possible causes of destruction of UMN & LMN?

A
  • Excitotoxicity (excess glutamate)
  • Oxidative damage (free radicals)
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12
Q

What other areas can be impacted by neuronal loss in ALS?

A
  • Frontotemporal cortex
  • Thalamus
  • Substantia Nigra
  • Spinocerebellar tracts
  • Dorsal columns
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13
Q

In ALS what are the lower motor neuron symptoms?

A
  • Asymmetric, usually distal weakness
  • Extensors weaker than flexors
  • Cervical extensor weakness (Head droop)
  • Bulbar signs
  • Hyporeflexia
  • Hypotonicity
  • Atrophy
  • Muscle cramps
  • Fasciculations
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14
Q

In ALS what are the Upper Motor Neuron symptoms?

A
  • Spasticity
  • Hyperreflexia/Clonus
  • Pathological reflexes (Babinski, Hoffman)
  • Muscle weakness (UE extensors & LE flexors)
  • Pseudobulbar palsy
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15
Q

As ALS progresses (LMN or UMN) sign may decrease.

A

UMN

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16
Q

In ALS what are the Bulbar symptoms?

A
  • Pseudobulbar Palsy (spastic & UMN = corticobulbar tract)
  • Bulbar palsy (flaccid & LMN = cell body in CN nuclei)
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17
Q

What is the Bulbar presentation in ALS?

A
  • Dysarthria
  • Dysphagia
  • Sialorrhea
  • Pseudobulbar affect (UMN)
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18
Q

In ALS what are the preserved areas?

A
  • Eye movements
  • Bowel & bladder
  • Sensory system
  • Cognition (50%)
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19
Q

ALS has a variable presentation what are some early signs?

A
  • Insidious asymmetrical weakness of distal aspect of one limb
  • Cramping with volitional movement (early morning stiffness)
  • Muscle fasciculations (spontaneous twitching of muscle fiber)
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20
Q

ALS has a variable presentation what are some late manifestations?

A
  • Respiratory complications (respiratory failure)
  • Oral motor complications (chewing, tongue mobility, swallowing) at risk for aspiration
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21
Q

How is ALS diagnosed?

A
  • Clinical presentation
  • EMG (Fibrillations, Fasciculation, Low amplitude polyphasic potentials)
  • Muscle biopsy (Denervation atrophy)
  • Muscle enzyme (CPK levels elevated)
  • Normal CSF & no changes on myelogram
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22
Q

What is the definitive diagnostic criteria for ALS?

A
  • UMN + LMN signs in 3 or more regions
  • Exclude structural lesions
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23
Q

What is the time frame for obtaining an ALS diagnosis?

A
  • May take 15-21 months from first presenting symptoms to definitive diagnosis
  • EMG changes may not be seen for 6-12 months
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24
Q

T/F: there is no known cure for ALS

A

True

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25
Q

What is the mechanism and how is Riluzole used in managing ALS?

A
  • Mechanism: inhibits glutamate
  • May have neuroprotective effect, but not cure
  • Slows progression by 10-15%
  • Increases survival by 3 month
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26
Q

What is the con to RIluzole when managing ALS?

A
  • Side effects common
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27
Q

What are some ways to manage the symptoms of ALS?

A
  • Anticholinergic (drooling)
  • Baclofen/diazepam (spasticity)
  • PEG tube
  • Invasive & non-invasive ventilation
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28
Q

What is the prognosis of ALS?

A
  • Onset before 50 may have slower progression
  • Survival 2-5 yrs
  • Respiratory compromise
  • Bulbar onset more rapidly progressive
  • NG/PEG and ventilation may prolong life
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29
Q

What is dementia?

A

Clinical syndrome of global cognitive decline, memory deficits + one other area of cognition that has significant effect on day-to-day function

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30
Q

What is Alzheimer disease (AD)?

A
  • Brain disease characterized by plaques, tangle & neuronal loss
  • Progressive disease process typically causing dementia
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31
Q

What is Alzheimer dementia?

A
  • Dementia that has gradual onset & slow progression
  • Caused by Alzheimer disease
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32
Q

Alzheimer Disease is characterized by slow decline/change in what?

A
  • Memory
  • Language
  • Visuospatial skills
  • Personality
  • Cognition
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33
Q

T/F: Alzheimer Disease is most common cause of dementia

A

True

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34
Q

With each decade of life Alzheimer Disease prevalence (increases or decreases)

A

Increases

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35
Q

What is risk factors for Alzheimer Disease?

A
  • Age (older)
  • Female (>80)
  • Family history
  • Genetic markers
  • Linked to HTN, DM, obesity & increase cholesterol, depression & head injury
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36
Q

What are some possible protection factors from developing Alzheimer Disease?

A
  • Diet
  • High level of education
  • Regular exercise
  • Cognition activities
  • Adequate vitamins (C, E, B6, B12, folate)
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37
Q

What is the genetic marker for Alzheimer Disease?

A

APOE4

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38
Q

Why is there is no single definitive cause of Alzheimer Disease?

A

breakdown in several processes necessary to sustain brain cells

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39
Q

What are the neuropathological hallmarks for Alzheimer Disease?

A
  • Amyloid plaques
  • Neurofibrillary techniques
  • decrease acetylcholine activity and receptors
  • Increase NMDA stimulation which increase calcium & cell death
  • Target corticocortical & hippocampal cells
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40
Q

What are the early clinical manifestations of Alzheimer Disease?

A
  • Mild memory loss
  • Mild cognitive impairments
  • Subtle personality changes (indifferent, irritable)
  • Diminished judgement/ decision making/ safety (driving)
  • Visuospatial deficits (navigation, manipulation of objects, 3D drawing)
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41
Q

What are the later clinical manifestations of Alzheimer Disease?

A
  • Impaired recall of current events/ more recent memories
  • Language deficits
  • Motor changes
  • Disorders of sleep, eating & sexual behavior
  • May become mute & bedridden
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42
Q

What are the motor changes in patients with Alzheimer Disease?

A
  • Slow movements
  • Halting gait
  • Generalized weakness
  • Increased risk of falls (diminished postural response, reduced awareness of self in space, reduced ability to move around obstacles)
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43
Q

What are the 10 warning signs of Alzheimer Disease?

A
  1. Recent memory loss which affects daily life
  2. Difficulty completing familiar tasks
  3. Confusion with time/place
  4. Visuospatial challenges
  5. Problems with speaking/writing
  6. Challenges with planning/problem solving
  7. Misplacing things
  8. Poor judgement
  9. Withdrawal from social activities
  10. Changes in mood & personality
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44
Q

In order to diagnosis someone with Alzheimer Disease what must first be ruled out?

A

Reversible cause of dementia through:
- Blood count
- chest radiography
- general neuro exam
- medication

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45
Q

How is the history of progression used to diagnosis someone with Alzheimer Disease?

A
  • Continuous gradual decline without abrupt changes
  • Mini mental state examination (MMSE)
  • Clock drawing test
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46
Q

What information from a MRI & CT can be obtained when diagnosing someone with Alzheimer Disease?

A
  • Atrophy (can occur with normal aging)
  • Neurofibrillary tangles/amyloid plaques not well imaged (found on autopsy later)
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47
Q

Vascular Dementia is a differential diagnosis for Alzheimer Disease. What is Vascular Dementia and what is the presentation?

A
  • Multiple small infarcts or stroke affect deep brain structure
  • Presentation of symptoms is more step -wise or variable
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48
Q

Lewy Body Dementia is a differential diagnosis for Alzheimer Disease. What is Lewy body Dementia present with and what is it unresponsive to?

A
  • Present with parkinsonism
  • Unresponsive to standard medications for dementia
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49
Q

Frontotemporal Dementia is a differential diagnosis for Alzheimer Disease. What is Frontotemporal Dementia and what are the impairments?

A
  • Describes various progressive disorders
  • Impairments in executive function & behavior
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50
Q

What does each set scores on the Mini- Mental State Examination indicate:
24-30
18-23
0-17

A
  • 24-30: Normal
  • 18-23: Mild cognitive impairments
  • 0-17: Severe cognitive impairments
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51
Q

T/F: there is a cure for Alzheimer Disease

A

False

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52
Q

T/F: There is a medication that can modify Alzheimer Disease

A

False- No disease modifying treatment only symptoms

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53
Q

What are some medications used in managing Alzheimer Disease?

A
  • Cholinesterase inhibitor
  • NMDA- receptor target therapy
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54
Q

What are some non- pharmacological ways to delay development of cognitive decline associated with Alzheimer Disease?

A
  • Physical activity
  • Social engagement
  • Intellectual activity
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55
Q

What is the prognosis of AD?

A
  • Onset to death 7 - 11 years
  • Death is often secondary to dehydration or infection
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56
Q

What is Parkinson’s Disease (PD)?

A
  • Chronic, progressive neurodegenerative disorder
  • Loss of midbrain dopamine neurons
  • Presence of Lewy body inclusion
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57
Q

What are the cardinal features of PD?

A
  • Rigidity
  • Tremor
  • Bradykinesia
  • Postural Instability
58
Q

The prevalence of PD commonly increases with what?

A

age

59
Q

What is the etiology of PD?

A
  • Idiopathic
  • Genetic link (5%) (usually younger onset)
60
Q

What are the risk factors for PD?

A
  • Toxic exposure
  • Precipitating infection
  • Exercise may decrease risk
  • Smoking and caffeine may decrease risk
  • Higher education may increase risk
61
Q

Describe the pathogenesis of PD

A
  • Degradation of the substantia nigra of basal ganglia
  • 70-80% loss before clinical symptoms
62
Q

How does dopamine play a role in motor output in healthy individuals?

A

Dopamine acts on both the direct & indirect pathways of the basal ganglia to reduce inhibitory outflow of the basal ganglia to thalamus

63
Q

In PD dopamine is absent what impact does this have on movement?

A
  • More inhibition of the thalamus and thus less activation of the cortex
  • Decrease dopamine = decrease movement generation
64
Q

What it signal from the cortex to the striatum in the direct and indirect pathway?

A
  • Direct: Decrease tonic inhibition and allow movement
  • Indirect: Increase inhibitory flow from basal ganglia
65
Q

What is the signals from the SNc to the striatum (dopamine) on direct and indirect pathways?

A
  • Direct: Decrease inhibitory outflow from the basal ganglia & allow movement (D1= excitatory)
  • Indirect: Decrease inhibitory outflow from the basal ganglia and allow movement (D2 = inhibitory)
66
Q

In PD why is there poverty of movement?

A
  • Inhibitory outflow from the basal ganglia is abnormally high
  • Thalamic activation of upper motor neurons in the cortex is less likely to occur
67
Q

What are some other features of PD? (not including the cardinal features)

A
  • Stooped/kyphotic posture
  • Festinating gait
  • akinesia/ freezing
  • dual task
  • altered sense of smell
  • weakness
  • fatigue
  • dementia
  • depression
  • orthostatic hypotension
68
Q

T/F: there is no single definitive test of PD

A

True

69
Q

One way diagnosis of PD can be made is through basis of history and clinical exam. What information gathered indicates a PD diagnosis?

A
  • Classic triad of symptoms (tremor, rigidity & akinesia)
  • Impaired olfaction
  • Differentiate from Parkinsonism (asymmetrical, resting tremor, good response to L-dopa, impaired olfaction)
70
Q

How can imaging be used in diagnosing PD?

A
  • CT/MRI may rule out pathologies
  • DaTSCAN detects levels of dopamine transporters in brain, but not disease specific
71
Q

T/F: The only conclusive diagnosis of PD is autopsy

A

True

72
Q

What is the presentation of Multisystem Atrophy (Shy-Drager Syndrome, Striatonigral Degeneration, Olivopontocereberllar Atrophy)?

A
  • Orthostatic hypotension
  • Cerebellar Dysfunction
  • May initially respond to L-Dopa
73
Q

What is the presentation of Progressive Supranuclear palsy?

A
  • Vertical eye movement dysfunction
  • Early falls
  • axial/neck rigidity
  • Speech-swallowing dysfunction
  • Frontal lobe dysfunction
  • Poor response to L-Dopa
74
Q

What is the presentation of Corticobasal Degeneration?

A
  • Apraxia
  • Alien limb
  • myoclonus
  • Dystonia
  • Poor response to L-Dopa
75
Q

What is the presentation of Dementia with Lewy bodies?

A
  • Early dementia/ hallucination
  • Rigidity
  • Fluctuating cognition
  • Falls
  • Motor symptoms only
  • May show some response to L-Dopa
76
Q

When should you consider a differential diagnosis of PD?

A
  • Severe, early dementia
  • Severe early autonomic dysfunction (orthostatic hypotension)
  • Vertical gaze difficulty
  • UMN signs
  • Cerebellar signs
  • Cortical sensory loss
  • Aphasia
  • Apraxia
  • early falls
  • Poor response to Levodopa
77
Q

What are some medications that can be taken to manage PD?

A
  • Levodopa
  • Carbidopa
  • COMT inhibitors
  • MAO - B inhibitors
  • Dopamine agonists
  • Amantadine
  • Anticholinergic agents
78
Q

What are some examples of surgical management for PD?

A
  • Stereotactic Surgery
  • Deep Brain stimulation
79
Q

Where can deep brain stimulators be placed?

A
  • Thalamus
  • Globus pallidus internal segment
  • sub thalamic nucleus
80
Q

What is the prognosis of PD?

A
  • Clinical manifestations progressively worse
  • L- Dopa looses effectiveness with time
  • Poorer prognosis if postural instability is an early sign
  • Does not significantly reduce lifespan if develop in 50s/60s
  • Death usually due to infection or complication of immobility
81
Q

What is Huntington’s Disease?

A

Progressive hereditary disorder characterized by:
- Movement abnormalities (chorea, brief, purposeless, involuntary movements)
- Personality disturbances
- Dementia

82
Q

T/F: There is no cure for Huntington disease

A

true

83
Q

What is the prevalence of Huntington Disease?

A
  • Usually starts in midlife
  • 25% late onset after 50 yrs
84
Q

What is the etiology of Huntington Disease?

A
  • Autosomal dominant transmission
  • Genetic marker on Chromosome 4
  • 50% chance of developing if parent has it
85
Q

T/F: Not all who inherit the gene for on Chromosome 4 will develop Huntington Disease

A

False
- All will develop the disease if they inherit the gene

86
Q

In juvenile onset of Huntington’s Disease the gene is typically inherited from?

A

Father

87
Q

In Huntington’s Disease there is a repeat of what sequence in the genetic code?

A

Repeats of CAG sequence in the genetic code for Huntingtons protein

88
Q

Repeats of the CAG genes tend to (increase or decrease) in number as the gene is passed on

A

Increase

89
Q

What is the pathogenesis of Huntington’s Disease?

A
  • Atrophy of neurons in the striatum (caudate & putamen) of the basal ganglia
  • Ventricles enlarged
  • White matter degeneration in frontal cortex
  • Brain volume decrease by up to 20%
  • exact mechanism of neuronal loss not known
90
Q

What does the caudate and putamen correlate with?

A
  • Caudate: Correlated with dementia
  • Putamen: correlated with neurological symptoms
91
Q

What impact does Huntington’s Disease have on indirect pathway?

A
  • Early
  • Blocks indirect pathway
  • Hyperkinetic
92
Q

What impact does Huntington’s Disease have on indirect & direct pathway?

A
  • Late
  • Blocks both indirect & direct pathway
  • Hypokinetic (rigid, slow)
93
Q

In Huntington Disease what are some movement disorders that can be present?

A
  • Chorea
  • Gaze fixation abnormalities
  • Dysarthria/dysphagia
  • Sleep disorders
  • Urinary incontinence
94
Q

What are some psychiatric disorder that can manifest in Huntington’s Disease?

A
  • Personality changes
  • Depression
95
Q

What are some cognitive disorders that can manifest in Huntington’s Disease?

A
  • Memory deficits
  • Executive dysfunction
96
Q

How can Huntington’s Disease be diagnosed?

A
  • Clinical signs
  • Family history
  • Genetic testing
97
Q

In advanced Huntington’s Disease what can be present on MRI/PET?

A
  • Atrophy and enlarged ventricles
  • Not disease specific
98
Q

What are some ways to treat Huntington’s Disease?

A
  • Counseling (genetic, psychological, social)
  • Symptom management
  • Experimental surgeries (mixed results)
99
Q

What are some medications to manage symptoms of Huntington’s Disease?

A
  • Tetrabenazine & Deutetrabenazine
  • Can block dopamine
  • Side effects: Pseudoparkinsonism, depression
100
Q

What research is underway for treatment of Huntington’s Disease?

A
  • On possible disease modifying medication
  • Reduce production of disease causing mRNA/protein
101
Q

What is the prognosis of Huntington’s Disease?

A
  • Slow progression
  • More severe if onset before 40
  • Death 15-20 years after onset
102
Q

T/F: Patient with Huntington’s Disease may survive into 90’s but with disability

A

True

103
Q

What is Multiple Sclerosis (MS)?

A
  • Chronic, demyelinating autoimmune disease of the CNS
  • Major cause of disability in young adults
  • Named for sclerotic plaques found throughout the CNS
  • Variable course
104
Q

Describe Relapsing-remitting MS (RRMS)

A
  • Periods of neurologic dysfunction (>24 hours)
  • Followed by full or partial recovery
  • Stable periods between attacks
105
Q

Describe secondary progressive MS

A
  • 60% of individual with RRMS go on to develop within 2 decades
  • Steady progressive decline
  • May still have relapses
106
Q

Describe primary progressive MS

A

Steady decline from onset with minimal recovery

107
Q

Describe progressive - relapsing MS

A

Progressive decline from onset with clear exacerbation

108
Q

What is the prevalence of MS?

A
  • Caucasians of Northern European descent
  • Females to males (3:1)
  • Geographical distribution (temperate climate)
109
Q

T?F: Males tend to have an earlier onset and less severe symptoms of Huntington’s Disease

A

False
- Later onset and more severe

110
Q

When is MS typically diagnosed?

A

20-50 y/o

111
Q

What is etiology of MS?

A
  • Genetic component
  • Coexisting autoimmune disorders
  • Viral infections
  • Vitamin D may provide risk reduction
112
Q

What is the pathogenesis of MS?

A
  • T cell (and possible B cell) mediated inflammatory disorder
  • Demyelination by inflammatory cells & extracellular environment
  • Loss of myelin causes neurons to be susceptible to apoptosis
113
Q

In regards to pathogenesis of MS:
- Replaces = (Demyelination or Long-term disability)
- Axon loss & cell death = (Demyelination or Long-term disability)

A
  • Replaces = Demyelination
  • Axon loss & cell death = Long-term disability
114
Q

What is Lhermitte’s sign? and what is it associated with?

A
  • Momentary electric sensation evoked by neck flexion or cough indicating a sign of posterior column damage
  • Can be seen in patients with MS
115
Q

Name some common symptoms of MS

A
  • optic neuritis
  • sensory changes (paresthesia,hypothesia)
  • Fatigue
  • Spaticity
  • Weakness (heat related conduction block)
  • Cranial nerve involvement (trigeminal neuralgia, dysarthria, gaze palsies, vertigo)
  • Ataxia
  • Pain (Lhermitte’s sign)
  • Depression
  • Cognitive decline (50%)
  • Bowel & bladder symptoms
116
Q

What does a definitive diagnosis of MS require evidence of?

A
  • 2 separate clinical attacks at least 1 month apart or changes in MRI over time (Dissemination in time)
  • Damage in at least 2 separate areas of CNS (Dissemination in anatomical space)
117
Q

What are the diagnostic tests for MS?

A
  • Clinical syndrome
  • MRI changes
  • CSF (oligoclomal bands & elevated immunoglobulins)
  • Abnormal evoked potentials (visual, auditory, sensory & motor)
118
Q

What is the term clinically isolated syndrome?

A

Term used after the first demyelinating attack

119
Q

What are some disease modifying agents that reduce attacks of MS by 1/3?

A
  • Interferon drugs (Slows immune response)
  • Immunomodulators (blocks immune cells)
  • Immunosuppressants (Decrease T cells)
120
Q

T/F: There is only one drug approved to treat secondary progressive MS and only one drug approved to treat primary progressive

A

True
- Secondary progressive (Mitoxantrone)
- Primary progressive (Ocrelizumab)

121
Q

What benefit does corticosteroids have on MS management?

A

Shorten duration of acute attack

122
Q

What are some other symptom managements used for MS?

A
  • Anti spasticity
  • Antidepressants
  • Sleep aids
123
Q

What happens in 15 & 20 years after onset of MS if it is untreated?

A
  • 15 years: 50% use AD to walk
  • 20 years: 50% wheel chair bound
124
Q

What are poor prognostic indicators of MS?

A
  • Early motor or cerebellar symptoms
  • Disability after the 1st attack
  • Multiple attacks in 1st year
125
Q

What is the prognosis of MS?

A
  • average 1 attack per year
  • 20% benign MS
  • Modest impact on life expectancy
126
Q

What is the most common form of hereditary ataxia?

A

Friedrich’s ataxia (FA)

127
Q

What is Friedrich’s ataxia?

A
  • Inherited, recessive disease causes nervous system damage
  • Characterized by degeneration of ascending & descending fibers of the spinal cord including spinocerebellar tracts
128
Q

When does FA manifest?

A

age 5-15

129
Q

What type of genetic disorder is FA? What is the percent chance of developing it?

A
  • Autosomal recessive linked to long arm of chromosome 9
  • Hereditary: 25% of offspring of affected parents develop the disorder
130
Q

Describe the pathogenesis of FA including what occurs in:
- Peripheral
- Central
- Cerebellum

A
  • Disrupts normal production of frataxin so certain cells (nerves. heart) can’t produce energy effectively & there is a build up of toxic byproduct
  • Cell loss in dorsal root ganglia (peripheral)
  • Secondary degeneration in posterior columns, dorsal & central spinocerebellar tracts (central)
  • Later degeneration of corticospinal tracts & dentate nucleus (cerebellum)
131
Q

In regards to the pathogenesis of FA what is spared?

A
  • Corticobulbar tracts
  • Cerebrum
132
Q

What are the clinical manifestations of FA?

A
  • Ataxic gait (most common)
  • Staggering/lurching gait
  • Clumsiness, tremor in limbs
  • sensory impairments (stocking & glove)
  • Loss DTR (knees & ankles)
  • Muscle tone (normal at rest, flexor spasms common later)
  • Progressive weakness of limbs
  • Cardiomyopathy
  • Dysarthria, nystagmus
133
Q

In FA there musculoskeletal deformities as a result of secondary complications. What are those?

A
  • Scoliosis
  • Kyphoscoliosis
  • Pes cavus
134
Q

What is usually preserved in FA even though individuals can get dementia & decreased intelligence during the course of disease?

A

Mentation

135
Q

T/F: DM is found in 10% of individuals and another 20% are found with impaired glucose tolerance

A

True

136
Q

What is the clinical criteria needed to diagnosis FA ?

A
  • onset ataxia before 25
  • progressive course
  • loss DTRs
137
Q

In an individual with FA what may a CT & MRI show?

A

May be normal or show atrophy in cerebellum or spinal cord

138
Q

What are some differentials of FA that must first be ruled out in order to diagnose FA?

A

Demyelinating forms of hereditary & sensory neuropathies

139
Q

What testing can be done that provides conclusive diagnosis of FA?

A

genetic testing

140
Q

What is the prognosis of FA?

A
  • Variable
  • 95% patients are using w/c by age 45
  • on average lose ability to walk 15 years after onset of symptoms
  • Mean age death mid 30s but can survive into 50s & 60s
141
Q

On average when do individuals with FA lose ability to walk?

A

15 years after onset of symptoms

142
Q

What is the mean age of death for individuals with FA?

A

Mean age death mid 30s but can survive into 50s & 60s

Clinical Med (Year 2) (17 decks)

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