Chapter 9 NM 1 Flashcards Preview

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Flashcards in Chapter 9 NM 1 Deck (41):
1

Giant Axonal Neuropathy Pathognomonic feature

LARGE focal AXONAL swelling

2

Refsum's Disease Unique Acid Build up

Phytanic Acid

3

MG % decrement on rep stim 2 hz

10%

4

LEMS % increment on rep stim 20-50hz

50%

5

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

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

6

FAP type III gene

apolipoprotein A1

7

FAP type 4 gene

gelsolin

8

3 demyelinating CMTs

CMT1 CMTX, CMT4

9

CMT1A gene defect

duplication in PMP22 chromosome 17

10

CMT1B mutation

myelin protein 0

11

Roussy-Levy syndrome

static tremor and gait ataxia + CMT1A

12

CMTX gene

conneXin 32 gene

13

Axonal type of CMT

CMT2

14

CMT2 with optic atrophy

CMT2A2 (two eyes)

15

CMT2 with vocal cord parlaysis/respiratory sx

CMT2C (c for chest)

16

HNPP mutation

DELETION in PMP22

17

Recurrent UE mononeuropathies preceded by pain and/or mechanical stress

Parsonage Turner Syndrom

18

Tangier's Autosomal ______, gene/chrom

Recessive, ABCA1 gene, 9q31

19

orange tonsils and neuropathy

tangier's

20

AMSAN antibodies

GM1, GM1b, GD1a

21

Benedictine sign

median neuropathy (Papal hand)

22

Claw hand

ulnar neuropathy (hyperextension at MCP with flexion at IP)

23

Wartenberg's sign

ulnar neuropathy (fifth digit abduction)

24

Froment's sign

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

25

OK sign

anterior interosseous neuropathy ( cannot touch finger tips together

26

Miller fisher Ab

GQ1b

27

Acute sensory neuropathy Ab

GD1b

28

MMN Ab

GM1

29

Small cell paraneoplastic neuropathy Ab

Anti-Hu

30

CIDP number of weeks

8 weeks

31

Muscle group weak in radial nerve injury proximal to spiral groove

forearm extensors

32

Familial Amyloid Polyneuropathy type 2

b/l CTS, transthyretin

33

Familial amyloid polyneuroapthy type 4

Corneal dystorphy

34

Demyelination in Monoclonal gammopathy Ab

anti-MAG

35

Sensory loss, acral mutilation, ANS

HSAN

36

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

primary erythromelalgia (also in fabry's)

37

AMAN Ab

GM1, GM1b, GD1a, Galnac-GD1a

38

FAP type 1

Cardiac, renal, ANS, sensory polyneuropathy

39

Porphyria w/o photosensitivity

AIP

40

Fabry's inheritance and gene

alpha galactosidase , x-inked

41

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

Abetalipoproteinemia autosomal recessive