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PT Neuro NATE EDITION > PNS Disorders > Flashcards

PNS Disorders Flashcards

1
Q

presentation of muscular dystrophy

A

proximal muscle weakness

cardiomyopathy

pseudohypertrohpy of calves

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2
Q

carpal tunnel syndrome presentation

A

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

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3
Q

name the inflammatory myopathies

A

polymyositis - CD8

dermatomyositis - CD4

inclusion boyd myositis - CD8

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4
Q

familial amyloid neuropathy

A

AD inherited neuropathy

transthyretin deposits as amyloid, disturbing sensation

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4
Q

pathology for polymyositis

A

lymphocytic invasion of non-necrotic fibers

chronic inflammation

fiber necrosis

fiber regeneration

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5
Q

myotonic dystrophy types, mutation, inheritance

A

DM1 - 19q CTG repeat w/anticipation

DM2 - 3q CCTG repeat w/out anticipation

muscle wasting

autosomal dominant

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5
Q

presentation and types of metabolic myopathies

A

mitochondrial disease

glycogen storage disease

lipid transport disease

cramping, exercise intolerance

infantile onset(can be severe/fatal)

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7
Q

inheritance of spinal muscular atrophy

A

autosomal recessive

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9
Q

kennedy disease presentation

A

lower motor neuron signs

bulbar muscle signs(swallowing, speech issues)

androgen insensitivity: gynecomastia, impotence, testicular atrophy, infertility

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9
Q

incluson body myositis presentation

mechanism?

A

finger flexion and knee extension weakness

atrophy of forearms

more common in men

inflammatory myopathy

CD8 mediated degenerative myopathy

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10
Q

nerve pairs in SC?

A

8 cervical

12 thoracic

5 lumbar

5 sacral

1 coccygeal

= 31 nerve pairs

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10
Q

presentation of charcot marie tooth disease

A

inverted shampagne leg

atrophy of hand

high foot arch

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11
Q

dermatomyositis pathology

A

perivascular, perimysial inflammation

perifasicular atrophy

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12
Q

pathology and cause of toxic myopathies

A

fiber necrosis WITHOUT inflammation

lipid lowering agents and ethanol are causes

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13
Q

motor symptoms/signs of neuropathy

A

weakness, atrophy, fasciculation, myoclonus, tremor, cramps

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14
Q

signs of lower motor neuron lesions

A

weakness

muscle atrophy

fasciculation

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15
Q

deficits in temperature and pinprick(pain) stimulation suggest…

A

small fiber/lateral spinothalamic tract lesion/deficit

16
Q

deficits in light touch, vibration, joint position sense indicate….

A

problems with large fiber/dorsal columns

18
Q

inclusion body myositis pathology

A

chronic inflammation

atrophy

rimmed vesicles

accumulation of proteins

19
Q

presentation of radiculopathy

A

radiculopathy = disorder of never ROOT

pain, tingling, numbness, weakness

examination: weakness, atrophy, sensory loss, hypoactive reflexes

19
Q

pathology of muscular dystrophy

A

endomysial fibrosis!

connective tissue replacement of muscle

20
Q

polymyositis presentation

mechanism

A

inflammatory myopathy

muscle pain, weakness

elevated CPK

mechanism: CD8 Tcell mediated autoimmune myopathy

21
Q

myasthenia gravis symptoms are exacerbated by….

A

increased temperature

infection

menses

emotional stress

23
Q

guillan barre syndrome presentation

A

ascending paralysis

rapid onset

autonomic symptoms

loss of reflexes

24
Q

what is the mutation in the inherited form of ALS?

A

SOD1 gene - CuZn superoxide dismutase

chr 21

2% of all ALS

25
Q

vasculitic neuropathy

A

axonal destruction via lack of nutrition(vasculitis)

distribution of neuropathy is more random than classic stocking/glove

26
Q

presentation of myasthenia gravis

A

proximal weakness, bulbar and ocular weakness, fatigability

gets worse w/repetition

27
Q

autonomic symptoms/signs of neuropathy

A

orthostatic symptoms

GU/GI dysfunciton

tonic pupils

absence of HR variation w/breathing

28
Q

hereditary neuropathy with liability for pressure palsy

A

nerves are more prone to pressure palsys(tingling after pressure on nerve)

sensory neuropathy symptoms

demyelinating, inherited neuropathy

Autosomal dominant mutation in PMP22

29
Q

signs of upper motor neuron lesions

A

weakness

spasticity

increased tendon reflexes

pathological reflexes

29
Q

mutation in congenital myopathy

unique pathology?

A

RYR1 mutation(predisposed to malignant hyperthermia)

nemaline myopathy - rods

31
Q

muscular dystrophy types and severity

A

duchenne - severe

becker - milder

severity is based on dystrophin protein absence; in duchenne, there is complete absence of dystrophin whereas becker retains a little

32
Q

name the diseases affecting the NMJ

A

lambert eaton

myasthenia gravis

botulism

34
Q

charcot marie tooth disease inheritance/mutation

A

type 1a is the most common demyelinating disease

17p11.2 duplication in the PMP22 gene(peripheral myelin protein)

autosomal dominant

35
Q

pathology of charcot marie tooth disease

A

onion bulbs

chronic demyelination

36
Q

dermatomyositis presentation

mechanism?

A

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

37
Q

sensory symptoms of a peripheral neuropathy

A

numbness

paresthesia - creeping, crawling, prickling, tingling

dysesthesia - burning, shooting pain

allodynia - pain out of proportion

hyperpathia - prolonged painful response to repetetive stimuli

38
Q

presentation of lambert eaton

A

proximal muscle weakness, bulbar and occular weakness, fatigability, reduced tendon reflex, autonomic dysfunciton

transient strength improvement with brief exercise

associated with SSLC

39
Q

limb-girdle syndrome

A

progressive muscle wasting of predominantly hip and shoulder

mutation in proteins on dystrophin axis

40
Q

presentation of spinal muscular atrophy

A

lower motor neuron signs

children

fasiculations in tongue

41
Q

Name the motor neuron disorders

A

ALS

Spinal muscular atrophy

kennedy disease

42
Q

chronic inflammatory demyelinating polyneuropathy(CIDP)

A

essentially the chronic form of guillan barre

chronic demyelination so - onion bulbs on pathology

PT Neuro NATE EDITION (4 decks)

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