Chapter 9 NM 1

Question 1

Giant Axonal Neuropathy Pathognomonic feature

Answer 1

LARGE focal AXONAL swelling

Question 2

Refsum’s Disease Unique Acid Build up

Answer 2

Phytanic Acid

Question 3

MG % decrement on rep stim 2 hz

Answer 3

10%

Question 4

LEMS % increment on rep stim 20-50hz

Answer 4

50%

Question 5

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

Answer 5

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

Question 6

FAP type III gene

Answer 6

apolipoprotein A1

Question 7

FAP type 4 gene

Answer 7

gelsolin

Question 8

3 demyelinating CMTs

Answer 8

CMT1 CMTX, CMT4

Question 9

CMT1A gene defect

Answer 9

duplication in PMP22 chromosome 17

Question 10

CMT1B mutation

Answer 10

myelin protein 0

Question 11

Roussy-Levy syndrome

Answer 11

static tremor and gait ataxia + CMT1A

Question 12

CMTX gene

Answer 12

conneXin 32 gene

Question 13

Axonal type of CMT

Answer 13

CMT2

Question 14

CMT2 with optic atrophy

Answer 14

CMT2A2 (two eyes)

Question 15

CMT2 with vocal cord parlaysis/respiratory sx

Answer 15

CMT2C (c for chest)

Question 16

HNPP mutation

Answer 16

DELETION in PMP22

Question 17

Recurrent UE mononeuropathies preceded by pain and/or mechanical stress

Answer 17

Parsonage Turner Syndrom

Question 18

Tangier’s Autosomal ______, gene/chrom

Answer 18

Recessive, ABCA1 gene, 9q31

Question 19

orange tonsils and neuropathy

Answer 19

tangier’s

Question 20

AMSAN antibodies

Answer 20

GM1, GM1b, GD1a

Question 21

Benedictine sign

Answer 21

median neuropathy (Papal hand)

Question 22

Claw hand

Answer 22

ulnar neuropathy (hyperextension at MCP with flexion at IP)

Question 23

Wartenberg’s sign

Answer 23

ulnar neuropathy (fifth digit abduction)

Question 24

Froment’s sign

Answer 24

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

Question 25

OK sign

Answer 25

anterior interosseous neuropathy ( cannot touch finger tips together

Question 26

Miller fisher Ab

Answer 26

GQ1b

Question 27

Acute sensory neuropathy Ab

Answer 27

GD1b

Question 28

MMN Ab

Answer 28

GM1

Question 29

Small cell paraneoplastic neuropathy Ab

Answer 29

Anti-Hu

Question 30

CIDP number of weeks

Answer 30

8 weeks

Question 31

Muscle group weak in radial nerve injury proximal to spiral groove

Answer 31

forearm extensors

Question 32

Familial Amyloid Polyneuropathy type 2

Answer 32

b/l CTS, transthyretin

Question 33

Familial amyloid polyneuroapthy type 4

Answer 33

Corneal dystorphy

Question 34

Demyelination in Monoclonal gammopathy Ab

Answer 34

anti-MAG

Question 35

Sensory loss, acral mutilation, ANS

Answer 35

HSAN

Question 36

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

Answer 36

primary erythromelalgia (also in fabry's)

Question 37

AMAN Ab

Answer 37

GM1, GM1b, GD1a, Galnac-GD1a

Question 38

FAP type 1

Answer 38

Cardiac, renal, ANS, sensory polyneuropathy

Question 39

Porphyria w/o photosensitivity

Answer 39

AIP

Question 40

Fabry's inheritance and gene

Answer 40

alpha galactosidase , x-inked

Question 41

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

Answer 41

Abetalipoproteinemia autosomal recessive