Clinical Neuro - Beary Flashcards
In a case that appears to be a myopathy, what initial lab value will I use in my work up?
CPK
CPK will be markedly increased in…
Muscle dystrophies Inflammatory myopathies Hyperthyroid myopathy Rhabdomyolysis
CPK will be normal or decreased in…
Dermatomyositis Hypothyroidism Steroid Induced Myopathy
Steroid induced myopathy will show what type of muscle fiber atrophy?
type II
A big risk factor for statin myopathy would be…
combo statins with fibrates or CCBs
Taking antipsychotics could cause what form of myopathy?
neuroleptic malignant syndrome - rhabdomyolysis
What mutation causes increased Ca release from the SR and can cause malignant hyperthermia?
Autosomal dominant ryanodine receptor mutation
How do you tx malignant hyperthermia?
dantroline
Critical illness myopathy might appear in ICU pt exposed to prolonged disuse and neuromuscular blocking agents. A biopsy would show…
type I fiber atrophy
With dermatomyositis I am going to first check for …. and I am also going to look for… if there are anti-Jo-1 abs present,
malignancies interstitial lung disease
A biopsy showing perifascicular atrophy and vasculatic changes will make consider the diagnosis of…
dermatomyositis
A muscle biopsy showing CD8+ mononuclear inflammation/MHC-1 antigen + between muscle fibers will make me consider dx of …
polymyositis
A chronic, progressive, asymmetric weakness of finger/wrist extensors, knee extensors, and ankle dorsiflexors along with a biopsy showing ringed vacuoles will make me want to dx…
inclusion body myositis
The MC muscle dystrophy is… with what pattern of inheritence?
Duchenne (DMD) X linked recessive (Xp21)- dystrophin error
If a pt who was initially thought to have DMD is still ambulatory by 16 yo, he will be dx’d with …
Becker MD
What drug should be offered to all pts dx’d with DMD?
corticosteroids
What is a main sign of Becker MD?
calf hypertrophy
If a pt has adult onset idiopathic dilated cardiomyopathy, what else needs to be in my ddx?
Becker MD
Chromosome 4 D4Z4 tandem repeat truncated to 10 or less causing DUX4 gene transcript is found in what disease?
Fasicoscapulohumeral MD
In fascioscapulohumeral MD, what will be one of the first ssx? What muscle does this MD spare? What is this called?
eye or lip weakness spares deltoids - ‘pop eye arms’
What is the MC muscular dystrophy in adults?
myotonic dystrophy
What is associated with Type 1, autosomal dominant myotonic dystrophy?
Chrom 19, CTG repeat (anticipation) distal weakness - facial, pharyngeal, finger flexor, foot flexor Hatchet face, cataracts, myotonia death by other organ involvement in their 50s
What is associated with Type 2, autosomal dominant myotonic dystrophy?
Chrom 3, CCTG repeat (no anticipation) proximal weakness in leg an hand live a normal life span
What does anticipation (increased length of trinucleotide repeat sequence) mean for clinical appearance?
earlier onset with each generation
Pompe disease (GSD Type II) is considered static, and is a mutation in… What are ssx in infants? What are ssx in adults?
acid maltase on chromosome 17 infants - hypotonia, enlarged tongue, cardiomegaly, hepatomegaly (death 1-2 yo) adults - pelvic weakness> shoulder weakness, abdominal and diaphragm weakness
Which glycogen storage disease will have a normal forearm exercise test?
Pompe disease
What is a normal forearm exercise test?
>2 fold increase in lactate with normal or increased ammonia
McArdle Disease (GSD Type V) is considered dynamic and is a deficiency in… what does this mean for the pt?
myophosphorylase on chromosome 11 they cannot break down glycogen in muscles - with high intensity exercise there will be cramps, myalgias with second wind phenomenon, myoglobinuria and muscle contracture, CK elevated to 1k for about 1-2 months
Which GSD has an abnormal forearm exercise test?
McArdle Disease (GSD Type V)
In carnitine palmitoyltransferase II deficiency, the defect causes …
impaired beta oxidation
What is the MCC of recurrent myoglobinuria in adults?
CPT II deficiency
What are features of CPT II deficiency that directly contrast McArdle GSD?
no second wind phenomenon normal CK between bouts of exercise
What should CPT II deficient people avoid?
valproic acid
If a pt presents as a child with multiple organs apparently involved in an issue, I should be thinking about…
mitochondrial myopathies
Hypokalemic periodic paralysis uses what ion channels?
Cav or ligand gated Na channels
What are triggers for hyopkalemic periodic paralysis?
cold, rest after exercise, high carb intake, etoh, stress
What are triggers for hyperkalemic peirodic paralysis?
cold, fasting, rest after exercise, K+ rich foods
What channel is used in hyperkalemic periodic paralysis?
Nav SCN4A
Should someone with hyperkalemic periodic paralysis eat carbs?
YES
In which periodic paralysis syndrome does paralysis last longer?
hypokalemic
Which periodic paralysis syndrome has an EMG that shows increased CMAP amplitude with electrical myotonia?
hyperkalemic
AD Myotonia Congenita, aka Thomsen’s Dz is mostly in male infants and is a mutation in… causing…
calcium channels painless muscle stiffness without periodic paralysis inability to re-open eyes after face is washed
Myotonia is worse in what climate?
cold
It is not uncommon to find what kind of disorders associated with periodic paralysis?
thyroid
In a normal pt, with repeated nerve stimulation, n (quanta (ACh) ready for release), m (number of quanta released), and EPP all go (up/down). What is still generated and why?
down MFAP - muscle fiber action potential
still generated because EPP is always above threshold
Describe Myasthenia Gravis features and ssx
Post-synaptic autoimmune disease abs to ACh receptors,
causes inhibition of excitatory effects of nACh receptors
ocular type involves muscles only, rare pupils involved
fatiguable weakness, good in the morning and worse as the day goes on
What is the MC presenting symptom of Myasthenia Gravis? What tumor is a common association?
diplopia and ptosis thymoma
What are some tests you could do to dx MG? Which is the most sensitive test?
Tensilon test with Edrophonium - prolongs ACh life in cleft and relieves ssx briefly
ice pack test - 2 min of ice to eyes causes at least a 2 mm improvement
Single fiber EMG is most sensitive test -
What happens with repetitive nerve stimulation to someone with MG?
decremental response will be present
m (# quanta released) will be normal
EPP is initially low and decreases because less ACh R available
EPP decreases threshold, MFAP is not generated, CMAP is decreased
All pts dx’d with MG and < 60 yo should get a … What is another reason not to get one?
thymectomy anti-MuSK abs present
How do you tx MG with rx?
steroids/prednisone to decrease ocular version conversion to general
thymectomy
AChE inhibitor/pyridostigmine for ssx releif (not modifying)
What medications might trigger a Myasthenia Crisis?
aminoglycosides, beta blockers, CCB, Mg Sulfate
How do you tx Myasthenia Crisis?
IVIG or plasma exchange
avoid NM blockers, use etomidate
Compare and Contrast Myasthenia Crisis with Cholinergic Crisis
- Myasthenia Crisis
- under rx’d
- resp depression
- can’t count to 10
- pupils nl or mydriasis
- improvement w/ Tensilon test
- tx IVIG or plasma exchange
- Cholinergic Crisis
- over rx’d
- N/V/D
- generalized muscle weakness
- pupils have miosis
- Tensilon test worsens paralysis
- tx with Atropine
What malignancy is associated with Lambert Eaton Syndrome?
small cell lung cancer
What is the pathophys behind Lambert Eaton Disease?
abs to P/Q type voltage gated Ca channels on
- presynaptic motor nerve terminals
- autonomic nerve terminals
- cerebellar purkinje cells
What are the ssx of Lambert Eaton and how would you diagnose it?
- proximal weakness that improves throughout the day (increased d/t increased Ca entering nerve terminals)
- dx probs with repeated nerve stimulation
- initial EPP generally is normal for m (#quanta released), but initial n (quanta) is decreased bc presynaptic Ca concentration is low
- initial EPP is below threshold
- no MFAP generated
In lambert eaton, what is the ‘ramping up effect’ a/w 50 hz Repeated Stimulation?
incremental increased response in CMAP because rate stimulation is greater than that of calcium clearing from the presynaptic nerve terminus
How do you tx Lambert Eaton?
3,4 DAP
inhibits presynaptic Kv channel, increasing Cav channel opening, increasing ACh release
removing cancer in lung also improves ssx
Compare and Contrast Myasthenia Gravis with Lamber Eaton
- MG
- normal reflexes
- no ANS involved
- worse with use
- abs to AChR
- responds to edrophonium
- 10% have thymoma
- LE
- decreased or no reflexes
- ANS ssx
- repair phenomenon, throughout day
- abs to P/Q Cav channel
- no response to edrophonium
- a/w small cell lung cancer
Within 3 days of a MG mom giving birth, the child is having transient feeding difficulties, weak cry, breathing difficulties, and floppiness. What are we suspecting and what can we do about it?
Transient Neonatal MG
transplacental passage of AChR abs
Tx - vent support, neostigmine, recovery is usually within 3 weeks
What ssx of botulism is found in all forms of botulism?
dilated, poorly reactive pupils
What are the 5 cognitive domains within mental status?
- social function/behavior
- executive function
- memory
- language
- visual/perceptual/spatial - attention
Where do executive function and social cognition and behavior reside in the brain?
frontal, temporal, subcortical
The center for language is usually found in what area of the brain, description wise?
dominant side (L usually) frontotemporoparietal area
Visuospatial function comes from what area of the brain?
non-dominant parietal
The L hemisphere usually dominates praxis which is… What else does the L brain do?
mechanical language expression/reception as well as complex motor programming (praxis) and sequential analysis
R side of the brain is usually thought of as artistic, what does it do?
dominant for visual-spatial orientation, appreciation for art/musical color, and expression/reception of language tone (prosody)
If I have dyspohonia or dysarthria, what area of the CNS would have damage, most likely?
brainstem
If I am unable to express or comprehend the emotional part of speech (melody, emphasis, inflection, gestures) I may have a lesion where?
non-dominant hemisphere