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ANATOMY AND PHYSIOLOGY | CNS & PNS > Neuromuscular buzz phrases - ch 9,10,11 > Flashcards

Neuromuscular buzz phrases - ch 9,10,11 Flashcards

1
Q

orange tonsils and neuropathy

A

tangier’s disease

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2
Q

albuminocytologic dissociation

A

guillan barre syndrome

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3
Q

acute motor and sensor axonal neuropathy

A

GM1, GM1b, GD1a

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4
Q

finger abduction

A

dorsal interossei (DAB: dorsal, abduct)

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5
Q

finger adduction

A

palmar interossei (PAD: palmar, adduct)

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6
Q

Benedictine sign

A

median neuropathy, on attempt to make a fist, absent flexion of first digit, partial flexion of second digit, complete flexion of fourth and fifth digits.

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7
Q

claw hand

A

ulnar neuropathy. on attempt to make a fist the fourth and fifth digits hyperextend at the metacarpophalangeal joint and partially flex at the interphalangeal joint.

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8
Q

wartenberg’s sign

A

ulnar neuropathy. fifth digit abduction at rest.

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9
Q

froment’s sign

A

ulnar neuropathy. during attempted forceful adduction of the thumb, as with attempt to hold a piece of paper between the thumb and index finger, thumb flexion occurs

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10
Q

intrinsic hand weakness in frequent bicycle rider

A

ulnar neuropathy due to compression in Guyon’s canal

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11
Q

wrist drop with strong forearm extension, reduced sensation over lateral arm

A

radial neuropathy at the spinal groove

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12
Q

OK sign

A

anterior interosseous neuropathy. On attempt to make an okay sign, the distal phalanges are unable to flex, and instead, the fingertip pulps touch. Weakness of flexor digitorum profundus to the second and third digits, flexor pollicis longus, and pronator quadratus, no sensory loss.

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13
Q

miller fisher syndrome

A

GQ1b

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14
Q

acute sensory neuronopathy

A

GD1b

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15
Q

multifocal motor neuropathy with conduction block

A

GM1

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16
Q

sensory ataxia, asymmetric sensory loss, areflexia, normal strength, reduced SNAPs with normal SMAPs

A

sensory neuronopathy

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17
Q

paraneoplastic neuropathy and/or neuronopathy associated with small cell lung cancer

A

Anti-Hu

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18
Q

inflammatory demyelinating polyneuropathy for more than 8 weeks

A

chronic inflammatory demyelinating polyneuropathy

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19
Q

inflammatory demyelinating polyneuropathy for less than 4 weeks

A

acute inflammatory demyelinating polyneuropathy

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20
Q

wrist drop with weak forearm extensors in an alcoholic

A

saturday night palsy; proximal radial nerve injury, prior to spiral groove

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21
Q

bilateral carpal tunnel, family history of carpal tunnel, mild sensory polyneuropathy (diagnosis, protein)

A

familial amyloid polyneuropathy type 2, transthyretin

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22
Q

corneal dystrophy, multiple nranial neuropathies peripheral sensorimotor neuropathy

A

familial amyloid polyneuropathy type 4

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23
Q

asymmetric demyelinating neuropathy affecting several motor nerves

A

multifocal motor neuropathy

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24
Q

asymmetric demyelinating neuropathy affecting several motor and sensory nerves

A

multifocal acquired demyelinating sensory and motor neuropathy

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25
Q

hammertoes, high arched feed, pes cavus

A

Charcot Marie Tooth (CMT)

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26
Q

most common type of SMT, mode of inheritance, type (axonal vs. demyelinating)

A

CMT1, autosomal dominant demyelinating )note: second most common type is X-linked CMT)

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27
Q

duplication in peripheral myelin protein 22 (PMP22) gene on chromosome 17

A

CMT1A (note: CMT1 is also known as HSMN1)

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28
Q

deletion in peripheral myelin protein 22 (PMP22) gene on chromosome 17

A

hereditary neuropathy with liability to pressure palsies

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29
Q

gene mutated in X-linked CMT

A

connexin 32 gene

30
Q

demyelinating neuropathy with monoclonal gammopathy

A

anti-mag

31
Q

sensory loss, acral mutilation, autonomic symptoms

A

hereditary sensory and autonomic neuropathy

32
Q

episodes of painful burning in the hands and feet with head exposure and exercise

A

primary erythromelalgia (can also occur in Fabry’s dz)

33
Q

acute motor axonal neuropathy

A

GM1, GM1b, GD1a, GalNac-GD1a

34
Q

painful sensory polyneuropathy, autonomic dysfunction, cardiac and renal involvement, family history of the same

A

familial amyloid polyneuropathy type 1, transthyretin. consider Fabry’s disease (if inheritance is x-linked in a patient with these manifestations)

35
Q

porphyria in which photosensitivity does not occur

A

acute intermittent porphyria

36
Q

angiokeratoma

A

purplish lesion seen on trunk, scrotum in Fabry’s disease

37
Q

enzyme deficiency in Fabry’s disease

A

alpha - galactosidase A

38
Q

mode of inheritance of Fabry’s disease

A

X-linked

39
Q

retinitis pigmentosa, neuropathy

A

refsum’s disease
myoneurogastrointenstinal encephalopathy, neurogenic muscle weakness, ataxia and retinitis pigmentosa syndrome, abetalipoproteinemia

40
Q

retinitis pigmentosa, neuropathy, ataxia, very low density lipoprotein, acanthocytes on peripheral smear

A

abetalipoproteinemia, Bassen-Kornzweig s/o, autosomal recessive.

41
Q

acute onset of dysautonomia in a smoker with a lung mass

A

paraneoplastic autonomic gangionopathy antibody against ganglionic nicotinic acetylcholine receptor

42
Q

horner’s syndrome with intact facial sweating

A

lesion distal to carotid bifurcation (as sweat fibers travel along external carotid)

43
Q

throat, tongue, ear pain associated with syncope

A

glossopharangeal neuralgia

44
Q

tilt table test showing increase in heart rate of at least 30 bpm from baseline or to more than 120 bpm within 10 minutes of head up tilt without significant changes in blood pressure, but with symptoms of orthostasis

A

postural orthostatic tachycardia syndrome, the most common form of dysautonomia

45
Q

emery-dreifuss (gene, inheritance)

A

LMNA, autosomal dominant. Emerin, X-linked

46
Q

central core myopathy (gene, pathologic finding, clinical association)

A

RYR1

central pale cores in NADH stains from absence of mitochondria. associated with malignant hyperthermia

47
Q

tarul disease (enzyme)

A

phosphofructokinase deficiency

48
Q

cause of hirschsprung’s disease

A

maldevelopment with focal absence of the myenteric plexus, sometimes due to RET proto-oncogene mutation

49
Q

becker’s muscular dystrophy (protein, inheritance)

A

abnormal or reduced dystrophin, x-linked recessive

50
Q

Cori disease (enzyme)

A

debranching enzyme deficiency

51
Q

syncope with hypotension and bradycardia after putting on a tight neck tie

A

carotid sinus hypersensitivity

52
Q

anti-muscle specific tyrosine kinase antibodies

A

fifty percent of seronegative myasthenics, predominantly involving swallowing, neck flexors

53
Q

mcardle’s disease (enzyme)

A

myophosphorylase deficiency

54
Q

dermatomyositis (pathologic findings)

A

perifascicular atrophy

55
Q

myotonic dystrophy DM1 (gene affected)

A

GCG repeat, PABP2 gene

56
Q

inclusion body myositis (pathologic findings)

A

rimmed vacuoles

57
Q

critical illness myopathy (pathologic finding)

A

myosin loss

58
Q

andersen’s disease (enzyme)

A

branching enzyme deficiency

59
Q

motor neuron disease with both upper and lower motor neuron involvement

A

amyotrophic lateral sclerosis

60
Q

survival motor neuron 1 gene

A

spinal muscular atrophy

61
Q

motor neuron disease with only lower motor neuron involvement

A

progressive muscular atrophy, spinal muscular atrophy, benign focal amyotrophy

62
Q

subacute combined degeneration of the spinal cord

A

vitamin B12 deficiency

63
Q

postgastric bypass neurologic syndrome

A

copper deficiency

64
Q

anterior two thirds of the spinal cord

A

anterior spinal artery

65
Q

posterior third of the spinal cord

A

posterior spinal arteries

66
Q

Devic’s disease, aquaporin-4

A

neuromyelitis optica

67
Q

nitrous oxide toxicity, associated with B12 depletion

A

anesthesia paresthetica

68
Q

HIV related myelopathy

A

vacuolar myelopathy

69
Q

large radicular artery supplying lower thoracic and upper lumbar region

A

adamkiewicz

70
Q

ipsilateral loss of motor function and sensation to vibration and proprioception below the level of the lesion, with contralateral loss of sensation to pain and temperature

A

brown-sequard syndrome

71
Q

adrenomyeloneuropathy, x-linked

A

ABCD1 gene on chromosome Xq28

72
Q

chronic steroid use

A

epidural lipomatosis

ANATOMY AND PHYSIOLOGY | CNS & PNS (8 decks)

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