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x_ RITE Review > NM I > Flashcards

NM I Flashcards

1
Q

Acute onset of dysautonomia in a smoker with lung mass

A

ab against ganglionic nicotinic acetylcholine receptor

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2
Q

DMD protein and inheritance

A

dystrophin x-linked recessive

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3
Q

throat, tongue, and ear pain with syncope

A

glossopharyngeal neuralgia

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4
Q

Emery-Dreifuss (gene,inheritance)

A

LMNA, autosomal dominant or x-linked, Emerin,

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5
Q

Central core myopathy ( pathologic findings, clinical assocation)

A

NADH stain reveals absence of mitochonfia associated with malignant hyperthermia

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6
Q

Tarui disease (enzyme)

A

phosphofructokinase def.

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7
Q

Hirschsprung’s disease (gene, absence of ____)

A

RET oncogene, myenteric plexus

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8
Q

Cori’s disease

A

debranching enzyme def

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9
Q

% with Musk antibodies and predominant symptoms

A

50% , more bulbar and neck flexors

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10
Q

Mcardles (type V) disease enzyme

A

myophosphorylase deficiency

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11
Q

Dermatomyositis (pathologic findings)

A

perifascicular atrophy

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12
Q

Myotonic dystrophy DM1 (gene

A

CTG repeat , DMPK gene

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13
Q

Antibody in LES

A

presynaptic P/Q-type voltage gated Calcium channel

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14
Q

Pompe’s disease (enzyme) (glycogenosis II )

A

acid maltase def

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15
Q

Oculopharyngeal dystrophy (gene)

A

GCG repeat, PABP2 gene

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16
Q

Myotonic dystrophy DM2 (gene)

A

CCTG repeat, zinc finger protein gene

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17
Q

Inclusion Body myositis (pathologic finding)

A

rimmed vacuoles

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18
Q

Critical illness myopathy (pathologic finding)

A

Myosin loss

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19
Q

Andersen’s disease (enzyme)

A

branching enzyme deficiency

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20
Q

Myotonia congenita gene/chrom

A

CLCN1 Chrom 7q

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21
Q

Big calves, tongue, heart, liver, hypotonia (infants),

A

Pompe’s

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22
Q

Exercise induces weakness and cramping with second wine phenomenon

A

Mcardles

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23
Q

liver disease and myopathic weakness

A

Coris

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24
Q

liver failure in a kid

A

anderson’s type IV

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25
Q
A
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26
Q

Giant Axonal Neuropathy Pathognomonic feature

A

LARGE focal AXONAL swelling

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27
Q

Refsum’s Disease Unique Acid Build up

A

Phytanic Acid

28
Q

MG % decrement on rep stim 2 hz

A

10%

29
Q

LEMS % increment on rep stim 20-50hz

A

50%

30
Q

Familial Amyloidand Polyneuropathy ( FAP) : Type I and Type II involve mutation in _____

A

transthyretin ( II = carpal tunnel, I = ANS sx)

31
Q

FAP type III gene

A

apolipoprotein A1

32
Q

FAP type 4 gene

A

gelsolin

33
Q

3 demyelinating CMTs

A

CMT1 CMTX, CMT4

34
Q

CMT1A gene defect

A

duplication in PMP22 chromosome 17

35
Q

CMT1B mutation

A

myelin protein 0

36
Q

Roussy-Levy syndrome

A

static tremor and gait ataxia + CMT1A

37
Q

CMTX gene

A

conneXin 32 gene

38
Q

Axonal type of CMT

A

CMT2

39
Q

CMT2 with optic atrophy

A

CMT2A2 (two eyes)

40
Q

CMT2 with vocal cord parlaysis/respiratory sx

A

CMT2C (c for chest)

41
Q

HNPP mutation

A

DELETION in PMP22

42
Q

Recurrent UE mononeuropathies preceded by pain and/or mechanical stress

A

Parsonage Turner Syndrom

43
Q

Tangier’s Autosomal ______, gene/chrom

A

Recessive, ABCA1 gene, 9q31

44
Q

orange tonsils and neuropathy

A

tangier’s

45
Q

AMSAN antibodies

A

GM1, GM1b, GD1a

46
Q

Benedictine sign

A

median neuropathy (Papal hand)

47
Q

Claw hand

A

ulnar neuropathy (hyperextension at MCP with flexion at IP)

48
Q

Wartenberg’s sign

A

ulnar neuropathy (fifth digit abduction)

49
Q

Froment’s sign

A

ulnar neuropathy ((papter between thumb and index finger then thumb flex occurs )

50
Q

OK sign

A

anterior interosseous neuropathy ( cannot touch finger tips together

51
Q

Miller fisher Ab

A

GQ1b

52
Q

Acute sensory neuropathy Ab

A

GD1b

53
Q

MMN Ab

A

GM1

54
Q

Small cell paraneoplastic neuropathy Ab

A

Anti-Hu

55
Q

CIDP number of weeks

A

8 weeks

56
Q

Muscle group weak in radial nerve injury proximal to spiral groove

A

forearm extensors

57
Q

Familial Amyloid Polyneuropathy type 2

A

b/l CTS, transthyretin

58
Q

Familial amyloid polyneuroapthy type 4

A

Corneal dystorphy

59
Q

Demyelination in Monoclonal gammopathy Ab

A

anti-MAG

60
Q

Sensory loss, acral mutilation, ANS

A

HSAN

61
Q

Episodes of painful burning in the hands and feet with heat exposure

A

primary erythromelalgia (also in fabry’s)

62
Q

AMAN Ab

A

GM1, GM1b, GD1a, Galnac-GD1a

63
Q

FAP type 1

A

Cardiac, renal, ANS, sensory polyneuropathy

64
Q

Porphyria w/o photosensitivity

A

AIP

65
Q

Fabry’s inheritance and gene

A

alpha galactosidase , x-inked

66
Q

Retinitis Pigmentosa + neuropathy _ ataxia + Low VLDL + acanthocytes (inheritance ?)

A

Abetalipoproteinemia autosomal recessive

x_ RITE Review (34 decks)

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