NM I

Question 1

Acute onset of dysautonomia in a smoker with lung mass

Answer 1

ab against ganglionic nicotinic acetylcholine receptor

Question 2

DMD protein and inheritance

Answer 2

dystrophin x-linked recessive

Question 3

throat, tongue, and ear pain with syncope

Answer 3

glossopharyngeal neuralgia

Question 4

Emery-Dreifuss (gene,inheritance)

Answer 4

LMNA, autosomal dominant or x-linked, Emerin,

Question 5

Central core myopathy ( pathologic findings, clinical assocation)

Answer 5

NADH stain reveals absence of mitochonfia associated with malignant hyperthermia

Question 6

Tarui disease (enzyme)

Answer 6

phosphofructokinase def.

Question 7

Hirschsprung’s disease (gene, absence of ____)

Answer 7

RET oncogene, myenteric plexus

Question 8

Cori’s disease

Answer 8

debranching enzyme def

Question 9

% with Musk antibodies and predominant symptoms

Answer 9

50% , more bulbar and neck flexors

Question 10

Mcardles (type V) disease enzyme

Answer 10

myophosphorylase deficiency

Question 11

Dermatomyositis (pathologic findings)

Answer 11

perifascicular atrophy

Question 12

Myotonic dystrophy DM1 (gene

Answer 12

CTG repeat , DMPK gene

Question 13

Antibody in LES

Answer 13

presynaptic P/Q-type voltage gated Calcium channel

Question 14

Pompe’s disease (enzyme) (glycogenosis II )

Answer 14

acid maltase def

Question 15

Oculopharyngeal dystrophy (gene)

Answer 15

GCG repeat, PABP2 gene

Question 16

Myotonic dystrophy DM2 (gene)

Answer 16

CCTG repeat, zinc finger protein gene

Question 17

Inclusion Body myositis (pathologic finding)

Answer 17

rimmed vacuoles

Question 18

Critical illness myopathy (pathologic finding)

Answer 18

Myosin loss

Question 19

Andersen’s disease (enzyme)

Answer 19

branching enzyme deficiency

Question 20

Myotonia congenita gene/chrom

Answer 20

CLCN1 Chrom 7q

Question 21

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

Answer 21

Pompe’s

Question 22

Exercise induces weakness and cramping with second wine phenomenon

Answer 22

Mcardles

Question 23

liver disease and myopathic weakness

Answer 23

Coris

Question 24

liver failure in a kid

Answer 24

anderson’s type IV

Question 26

Giant Axonal Neuropathy Pathognomonic feature

Answer 26

LARGE focal AXONAL swelling

Question 27

Refsum's Disease Unique Acid Build up

Answer 27

Phytanic Acid

Question 28

MG % decrement on rep stim 2 hz

Answer 28

10%

Question 29

LEMS % increment on rep stim 20-50hz

Answer 29

50%

Question 30

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

Answer 30

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

Question 31

FAP type III gene

Answer 31

apolipoprotein A1

Question 32

FAP type 4 gene

Answer 32

gelsolin

Question 33

3 demyelinating CMTs

Answer 33

CMT1 CMTX, CMT4

Question 34

CMT1A gene defect

Answer 34

duplication in PMP22 chromosome 17

Question 35

CMT1B mutation

Answer 35

myelin protein 0

Question 36

Roussy-Levy syndrome

Answer 36

static tremor and gait ataxia + CMT1A

Question 37

CMTX gene

Answer 37

conneXin 32 gene

Question 38

Axonal type of CMT

Answer 38

CMT2

Question 39

CMT2 with optic atrophy

Answer 39

CMT2A2 (two eyes)

Question 40

CMT2 with vocal cord parlaysis/respiratory sx

Answer 40

CMT2C (c for chest)

Question 41

HNPP mutation

Answer 41

DELETION in PMP22

Question 42

Recurrent UE mononeuropathies preceded by pain and/or mechanical stress

Answer 42

Parsonage Turner Syndrom

Question 43

Tangier's Autosomal \_\_\_\_\_\_, gene/chrom

Answer 43

Recessive, ABCA1 gene, 9q31

Question 44

orange tonsils and neuropathy

Answer 44

tangier's

Question 45

AMSAN antibodies

Answer 45

GM1, GM1b, GD1a

Question 46

Benedictine sign

Answer 46

median neuropathy (Papal hand)

Question 47

Claw hand

Answer 47

ulnar neuropathy (hyperextension at MCP with flexion at IP)

Question 48

Wartenberg's sign

Answer 48

ulnar neuropathy (fifth digit abduction)

Question 49

Froment's sign

Answer 49

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

Question 50

OK sign

Answer 50

anterior interosseous neuropathy ( cannot touch finger tips together

Question 51

Miller fisher Ab

Answer 51

GQ1b

Question 52

Acute sensory neuropathy Ab

Answer 52

GD1b

Question 53

MMN Ab

Answer 53

GM1

Question 54

Small cell paraneoplastic neuropathy Ab

Answer 54

Anti-Hu

Question 55

CIDP number of weeks

Answer 55

8 weeks

Question 56

Muscle group weak in radial nerve injury proximal to spiral groove

Answer 56

forearm extensors

Question 57

Familial Amyloid Polyneuropathy type 2

Answer 57

b/l CTS, transthyretin

Question 58

Familial amyloid polyneuroapthy type 4

Answer 58

Corneal dystorphy

Question 59

Demyelination in Monoclonal gammopathy Ab

Answer 59

anti-MAG

Question 60

Sensory loss, acral mutilation, ANS

Answer 60

HSAN

Question 61

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

Answer 61

primary erythromelalgia (also in fabry's)

Question 62

AMAN Ab

Answer 62

GM1, GM1b, GD1a, Galnac-GD1a

Question 63

FAP type 1

Answer 63

Cardiac, renal, ANS, sensory polyneuropathy

Question 64

Porphyria w/o photosensitivity

Answer 64

AIP

Question 65

Fabry's inheritance and gene

Answer 65

alpha galactosidase , x-inked

Question 66

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

Answer 66

Abetalipoproteinemia autosomal recessive