PNS Disorders Flashcards
presentation of muscular dystrophy
proximal muscle weakness
cardiomyopathy
pseudohypertrohpy of calves
carpal tunnel syndrome presentation
nocturnal paresthesia in hand, wrist, forearm
shaking of hand
sensory disturbance of digits 1,2,3 and 1/2 of 4
weakness/atrophy of thenar
name the inflammatory myopathies
polymyositis - CD8
dermatomyositis - CD4
inclusion boyd myositis - CD8
familial amyloid neuropathy
AD inherited neuropathy
transthyretin deposits as amyloid, disturbing sensation
pathology for polymyositis
lymphocytic invasion of non-necrotic fibers
chronic inflammation
fiber necrosis
fiber regeneration
myotonic dystrophy types, mutation, inheritance
DM1 - 19q CTG repeat w/anticipation
DM2 - 3q CCTG repeat w/out anticipation
muscle wasting
autosomal dominant
presentation and types of metabolic myopathies
mitochondrial disease
glycogen storage disease
lipid transport disease
cramping, exercise intolerance
infantile onset(can be severe/fatal)
inheritance of spinal muscular atrophy
autosomal recessive
kennedy disease presentation
lower motor neuron signs
bulbar muscle signs(swallowing, speech issues)
androgen insensitivity: gynecomastia, impotence, testicular atrophy, infertility
incluson body myositis presentation
mechanism?
finger flexion and knee extension weakness
atrophy of forearms
more common in men
inflammatory myopathy
CD8 mediated degenerative myopathy
nerve pairs in SC?
8 cervical
12 thoracic
5 lumbar
5 sacral
1 coccygeal
= 31 nerve pairs
presentation of charcot marie tooth disease
inverted shampagne leg
atrophy of hand
high foot arch
dermatomyositis pathology
perivascular, perimysial inflammation
perifasicular atrophy
pathology and cause of toxic myopathies
fiber necrosis WITHOUT inflammation
lipid lowering agents and ethanol are causes
motor symptoms/signs of neuropathy
weakness, atrophy, fasciculation, myoclonus, tremor, cramps
signs of lower motor neuron lesions
weakness
muscle atrophy
fasciculation
deficits in temperature and pinprick(pain) stimulation suggest…
small fiber/lateral spinothalamic tract lesion/deficit
deficits in light touch, vibration, joint position sense indicate….
problems with large fiber/dorsal columns
inclusion body myositis pathology
chronic inflammation
atrophy
rimmed vesicles
accumulation of proteins
presentation of radiculopathy
radiculopathy = disorder of never ROOT
pain, tingling, numbness, weakness
examination: weakness, atrophy, sensory loss, hypoactive reflexes
pathology of muscular dystrophy
endomysial fibrosis!
connective tissue replacement of muscle
polymyositis presentation
mechanism
inflammatory myopathy
muscle pain, weakness
elevated CPK
mechanism: CD8 Tcell mediated autoimmune myopathy
myasthenia gravis symptoms are exacerbated by….
increased temperature
infection
menses
emotional stress
guillan barre syndrome presentation
ascending paralysis
rapid onset
autonomic symptoms
loss of reflexes
what is the mutation in the inherited form of ALS?
SOD1 gene - CuZn superoxide dismutase
chr 21
2% of all ALS
vasculitic neuropathy
axonal destruction via lack of nutrition(vasculitis)
distribution of neuropathy is more random than classic stocking/glove
presentation of myasthenia gravis
proximal weakness, bulbar and ocular weakness, fatigability
gets worse w/repetition
autonomic symptoms/signs of neuropathy
orthostatic symptoms
GU/GI dysfunciton
tonic pupils
absence of HR variation w/breathing
hereditary neuropathy with liability for pressure palsy
nerves are more prone to pressure palsys(tingling after pressure on nerve)
sensory neuropathy symptoms
demyelinating, inherited neuropathy
Autosomal dominant mutation in PMP22
signs of upper motor neuron lesions
weakness
spasticity
increased tendon reflexes
pathological reflexes
mutation in congenital myopathy
unique pathology?
RYR1 mutation(predisposed to malignant hyperthermia)
nemaline myopathy - rods
muscular dystrophy types and severity
duchenne - severe
becker - milder
severity is based on dystrophin protein absence; in duchenne, there is complete absence of dystrophin whereas becker retains a little
name the diseases affecting the NMJ
lambert eaton
myasthenia gravis
botulism
charcot marie tooth disease inheritance/mutation
type 1a is the most common demyelinating disease
17p11.2 duplication in the PMP22 gene(peripheral myelin protein)
autosomal dominant
pathology of charcot marie tooth disease
onion bulbs
chronic demyelination
dermatomyositis presentation
mechanism?
heliotrope rash(blue/purple eyelids)
rash on face(malar), neck, anterior chest, knees, elbows, malleoli
gottron’s sign: raised violaceous rash/papules @ knuckles(MP, PIP, DIP joints)
muscle weakness
elevated CPK
inflammatory myopathy
CD4 mediated autoimmune vasculitis/myopathy
sensory symptoms of a peripheral neuropathy
numbness
paresthesia - creeping, crawling, prickling, tingling
dysesthesia - burning, shooting pain
allodynia - pain out of proportion
hyperpathia - prolonged painful response to repetetive stimuli
presentation of lambert eaton
proximal muscle weakness, bulbar and occular weakness, fatigability, reduced tendon reflex, autonomic dysfunciton
transient strength improvement with brief exercise
associated with SSLC
limb-girdle syndrome
progressive muscle wasting of predominantly hip and shoulder
mutation in proteins on dystrophin axis
presentation of spinal muscular atrophy
lower motor neuron signs
children
fasiculations in tongue
Name the motor neuron disorders
ALS
Spinal muscular atrophy
kennedy disease
chronic inflammatory demyelinating polyneuropathy(CIDP)
essentially the chronic form of guillan barre
chronic demyelination so - onion bulbs on pathology
