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37 Cards in this Set
- Front
- Back
ALS
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lou gehrig's disease
progressive neurodegen w/ UMN and LMN loss |
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which rootlets have more degen?
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ant rootlets are grossly smaller than post roots
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epidemiology
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b/w ages 40-60
20,000 americans w/ ALS 1-3/100,000 worldwide men more than women more whites- but not race rel |
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gene defect in Familial ALS
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Cu/Zn SOD1 gene
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etiological theories
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selective MN damage from a bunch of injuries including:
free rad, excitotoxins, odixative stress, neurofil dysfxn, mito dysfxn, proinflam cytokines |
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CNS plasma levels in ALS patients
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inc glutamate
dec glutamate in cerebral/SC tissues |
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variable loss of transporter
type of mutation in Cu/Zn SOD1 gene |
Glial Glutamate Trasporter Protein in motor cortex and SC
multiple mutations |
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mutation in Cu/Zn SOD1 causes
in theory what does it result in? |
1. reduced superoxide anion radical detoxification
2. accumulation of superoxide anions *Toxic Gain of Function |
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Immune Hypothesis
which Ab? |
immune complexes found in Kidneys and S.I.
Abs against MN populations 10% have monoclonal Abs- IgM |
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Spinal cord has...(immune)
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1. Inflammatory cell infiltrates
2. macrophages w/ MHC-II 3. elevated IL-6 levels |
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Toxic Gain of Fxn affects which receptor?
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Androgen Receptor Protein
defects in DNA repair impaired mito fxn |
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UMN signs
LMN signs |
disruption of CST and CBT
preferentially fast acting CST in ant horns of SC prox m more ventral distal m more dorsal |
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Common Symptoms
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1. general weakness
2. bulbar symptoms- chewing, swallowing 3. Hand atrophy 4. foot drop 5. leg spasticity 6. Fasiculations 7. difficulty w/ fine motor mvmts |
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where does the weakness appear first?
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in the distal limbs
cramping, aching, and twitching seen first |
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LMN dysfxn
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1. weakness
2. atrophy 3. fasiculations 4. Hyporeflexia 5. cramps |
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UMN dysfxn
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1. muscle weakness
2. stiffness-spasticity 3. Hyperreflexes |
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Bulbar Symptoms
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difficulty swallowing and chewing
respiratory weakness Sialorrhea-excessive drooling |
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Diagnosing ALS depends heavily on
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1. History
2. Physical Examination |
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General physical exam presentations
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1. diaphragmatic and intercostal weakness
2. out of breath 3. cyanotic 4. paradoxical abdominal movements 5. accessory muscles in resp |
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Neurological exam
Pseudobulbar effect |
1. normal mentation
2. Cranial nerve involvement 3. tongue scalloping/atrophy 4. hand atrophy inappropriate laughing or crying corticobulbar-limbic system |
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where does the hand atrophy begin?
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at the dorsal interosseus muscle
scalloped loss |
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if creatine levels are over 1000 then it is....
nerve conduction studies show |
NOT ALS
sensory nerve conduction is NORMAL |
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EMG measurement of denervation should be
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widespread
need to see 3 limbs, 3 muscles supplied by dfft nerve roots for conclusive diagnosis |
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muscle biopsy used to
find.. |
exclude other disorders that mimic ALS
1. Grouped Atrophy 2. Angulated Fibers- single m cells atrophic in relat to other normal m cells |
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MRI
Lumbar punctures resp fxn |
cervical and lumbar SC
rarely needed evaulated |
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many diseases have similar symptoms to ALS
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the next 11 or so
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Cervical Spondylosis
multifocal motor neuropathy hyperthyrodism HIV Heavy metal intox Lymphoma |
tandem cervical/lumbar spine les
very similar to ALS. NO bulbar similiar symptoms always test for it w/ symptoms from fillings excluded thru MRI or lumbar punct |
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Benign fasiculations
Fasiculations w/o weakness is... |
1/3rd of presenting patients come with this out of concern
NOT a cause for concern |
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Treatment
muscle spasms aspirations |
baclofen or tizanidine
teach safe swallowing, PEG -want FVC>50% |
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Excessive Salivation-Sialorrhea
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use anticholinergics
sal-tropine/atropine suction botox to parotids |
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increased viscosity of saliva
repiratory difficulties |
treat w/ hydration
meat tenderizer BiPAP(non-invasive), tracheostomy |
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Pseudobulbar symptoms
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SSRIs, amantidine
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Riluzole (Rilutek)
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glutamate antagonist that prolongs survival for Bulbar ALS
only FDA approved med for ALS |
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Vitamin Regimens
Cox-2 inhibitors Creatine |
Vit C, E, Beta-carotene
NOT used anymore some evidence, drink lots of water with it |
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Recomended Treatment Regimen
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1. Riluzole 50mg
2. creatine 5g/day 3. co-enz Q10 4. antioxidant vit (C/E/beta c) |
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ALS variants
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1. ALS w/ dementia
2. AD and AR familial ALS 3. AR juvenile ALS 4. Paraneoplastic MN disease 5. ALS-parkinsonism-dementia complex |
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Prognosis
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w/ respiratory insufficiency they live about 3-4 years post diagnosis
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