Nm Case Notes

Front 1

What is the mechanism of action of ciguatoxin?

Back 1

Depolarization of Na channel, repetitive activation

Front 2

What carries ciguatoxin?

Back 2

eel, barracuda, mackerel, most common fish poisoning in the world, esp. carribean

Front 3

What are the symptoms of ciguatoxin poisoning?

Back 3

perioral burning paresthesias, paradoxical temperature reversal, dental pain GI symptoms

Front 4

What is the treatment for ciguatoxin?

Back 4

1g/kg mannitol 25% q 3-6 hours

Front 5

What is the MOA of tetrodotxin?

Back 5

paralysis, can be lethal, blowfish, blocks voltage dependent Na channels

Front 6

What is MOA of domoic acid toxin?

Back 6

glutamate antagonist

Front 7

What are symptoms of domoic acid poisoning?

Back 7

amnestic shellfish poisoning, cramps, diarrhea, neuropathy, sz, memory loss

Front 8

What is the mechanism of saxitoxin?

Back 8

Na channel blocking

Front 9

What are the symptoms of saxitoxin poisoning?

Back 9

paresthesias, dysphagia, respiratory failue

Front 10

What are the symptoms associated with adult polyglucosan body disease?

Back 10

neurogenic bladder, lower motor neuron weakness-difficulty walking, distal sensory loss

Front 11

What is the hereditary abnormality associated with adult polyglucosan body disease?

Back 11

glycogen branching enzyme, (ashkenazi jews)

Front 12

What abnormality is associated with rippling muscle disease?

Back 12

calveolin

Front 13

What are the features of rippling muscle disease/caveolin LGMD 1C?

Back 13

myoedema-mounding of muscles, esp. thenar eminence
rippling muscles-elicited by stretch, causes slow wave-like contraction electrically silent

Front 14

What are other manifestations of LGMD 1 C?

Back 14

isolated hyperCKemia, rippling muscle disease, cardiomyopathy

Front 15

What is the treatment for rippling muscle disease?

Back 15

Dantrolene, but caution can increase weakness

Front 16

What is the phenotype for debrancher enzyme deficiency?

Back 16

some hepatic only;
distal calf/peroneal weakness, respiratory failure, cardiomyopathy + axonal neuropathy

Front 17

What is in the differential diagnosis for repetitive after discharges on NCS? (4)

Back 17

slow channel myasthenic syndrome
congenital acetylcholinesterase deficiency
anticholinesterase med tox
organophosphate poisoning

Front 18

What is the phenotype of slow channel congenital myasthenic syndrome?

Back 18

ptosis, extraocular muscle weakness, finger extensor weakness, decrement on RNS, mild improvement with edrophonium

Front 19

What is the phenotype of myofibrillar myopathy?

Back 19

distal weakness + cardiomyopathy, diagnosis made on biopsy with desmin accumulations

Front 20

What is the phenotype for Welander's distal myopathy?

Back 20

upper extremity predominant, onste

Front 21

How do conus medullaris and cauda equina syndromes differ based on pain, bo/bl, weakness, numbness, sex involvement and onset?

Back 21

CE- more pain, late bo/bl, + fascics, early saddle numbness, less severe sexual dysfxn, sudden onset
Conus Medullaris- No pain, early bo/bl, asymmetric weakness, bilateral smmetric saddle numbness, severe sex dysfxn, gradual onset

Front 22

What is the normal side to side difference for H-reflex?

Back 22

<1.5 ms

Front 23

What is the normal side to side difference for blink reflex?

Back 23

R1 <1.2 ms
R2 <5 ms (ipsi)
R2 <7ms (contra)

Front 24

What is the characteristic onset of Hirayama's?

Back 24

monomelic amyotrophy usually presents with distal C7-8-T1 weakness (10% have proximal) that is progressive for a period of time andthen stops, usually younger patients

Front 25

What is the differential diagnosis for disorders with electrophysiologyic myotonia without clinical myotonia (5)?

Back 25

Acid maltase
Myositis
Toxic
Cytoplasmic Body
Hypothyroidism (Tulio Cases)

Front 26

What is sensory innervation of common peroneal nerve?

Back 26

patellar region

Front 27

What is the phenotype of FKRP?

Back 27

LGMD 2I, similar to becker's, can affect the heart with calf pseudohypertrophy

Front 28

What are the three different types of lesions that can occur in Guyon's canal?

Back 28

1) Proximal with involvement of hypothenar, FDI and sensory
2) pure sensory
3) pure motor FDI +hypothenar
4) just FDI

Front 29

What is the ddx for camptocormia?

Back 29

3 major categories:
Muscle: IBM, DM, PM
dystrophy: FSH, myotonic
nemaline rod
mitochondrial
isolated truncal extensor
Dystonia- Parkinsonism
Other
CIDP, ALS, Myasthenic

Front 30

What is the most common form of porphyria?

Back 30

partial deficiency of porphobilinogen deaminase

Front 31

What is seen on lab testing for AIP?

Back 31

increased ALA and coproporphyrins in urine

Front 32

What are renaut bodies on nerve biopsy?

Back 32

plastic sections can see subperineurial fibrillary whorled structures

Front 33

What is the calculation for terminal latency index?

Back 33

TLI= 10 X distance to distal conduction divided by (MNCV X DML)

Front 34

What is the phenotype for Nonaka myopathy?

Back 34

hereditary IBM, 20-30, anterior leg weakness

Front 35

What is the phenotype for Miyoshi myopathy?

Back 35

early adult onset, posterior legs first

Front 36

What is the phenotype for Finnish myopathy?

Back 36

titin mutation, European families( Fr, Belgian, Spain) legs more than hands with cardiac

Front 37

What is phenotype for Markesberry?

Back 37

ZASP mutation, English, Fr, Finnish; Dilated CM; distal arm + leg (legs first), can progress to proximal

Front 38

How do most Guyon canal cases present?

Back 38

Pure FDI weakness

Front 39

What are the branches and muscle innervated of facial nerve? The Zoo Buys Many Creepy animals

Back 39

Temporal- Frontalis
Zygomatic- Orb Oculi
Buccal- Nasalis
Mandibular- Orb Oris
Cervical- Platysma +anterior belly of digastric

Front 40

What are the roots for ECR longus?

Back 40

C6-7

Front 41

What are the trunks for ECR longus?

Back 41

middle + upper

Front 42

How does cold temperature affect NCS?

Back 42

increases latency, duration and amplitude

Front 43

What are the roots for FCU?

Back 43

C8-T1

Front 44

What are the roots for ECU?

Back 44

C7-8

Front 45

What is the phenotype for metachromatic leukodystrophy?

Back 45

MR, optic atrophy, spasticity, arylsulfatase A deficiency, white matter abnormality sparing the U-fibers

Front 46

What is Cockayne syndrome?

Back 46

optic atrophy, hearing loss, progeria, dwarfism

Front 47

What is Nieman Pick disease?

Back 47

sphingomyelinase deficiency, dystonia, dementia, weakness, supranuclear gaze paresis

Front 48

What is cerebrotendinous xanthomatosis?

Back 48

cataracts, diarrhea, neuropathy, xanthoma

Front 49

What is Krabbe's disease?

Back 49

beta galactosidase deficiency, MR, optic atrophy, spasticity

Front 50

What is the energy supply and twitch type of Type 1 fibers?

Back 50

oxidative and slow twitch

Front 51

What is the energy supply and twitch type of Type 2 fibers?

Back 51

glycolytic and fast

Front 52

What are the roots for ilioinguinal nerve?

Back 52

L1

Front 53

What are the roots for Iliohypogastric nerve?

Back 53

L1

Front 54

What are the roots for genitofemoral nerve?

Back 54

L1-2

Front 55

What are the roots for lateral femoral cutaneous nerve?

Back 55

L2-3

Front 56

What are the roots of the pudendal nerve?

Back 56

S1-2-3

Front 57

What are the roots of the Posterior Cutaneous Nerve?

Back 57

S2-3-4

Front 58

What is the innervation of adductor magnus?

Back 58

1/2 sciatic nerve, 1/2 obturator nerve

Front 59

What is the innervation of FPB?

Back 59

1/2 median, 1/2 ulnar

Front 60

What is a martin gruber anastomosis type 1?

Back 60

median to ulnar crossover ADM

Front 61

What is a martin gruber anastomosis type 2?

Back 61

median to ulnar crossover FDI, most common, least found

Front 62

What is martin gruber anastomosis type 2?

Back 62

median to ulnar crossover, found on APB nerve conduction studies

Front 63

What are the roots for flexor digitorum sublimis?

Back 63

C7-8

Front 64

What is the action of flexor digitorum sublimis?

Back 64

PIP flexion

Front 65

What is the source of myokymia?

Back 65

a motor unit firing

Front 66

What is the source of myotonia?

Back 66

muscle fiber firing

Front 67

What age do NCS reach normal value for children?

Back 67

3-5

Front 68

What is Riche-Cannieu anastomosis?

Back 68

all ulnar hand

Front 69

Why does temperature cause a flase negative study on RNS?

Back 69

cold temperature decreases the function of acetylcholinesterase

Front 70

What is pseudofacilitation?

Back 70

Pseudofacilitation occurs in normal people as brief max exercise causes fibers to fire synchronously which can increase CMAP amplitude

Front 71

How is PERM distinguished from stiff person syndrome?

Back 71

PERM is progressive encephalomyelitis with rigidity and myoclonus; (axial muscle stiffness, rigidity, painful spasms) CN involvement, opthalmoplegia, deafness, nystagmus, dysphagia (not present in SPS) sensory symptoms, brainstem signs (ataxia, vertigo, ocular motility disturbance, dysarthria)

Front 72

What is the differential diagnosis for exercise-induced silent cramps?

Back 72

Brody disease (sarc reticulum ATPase deficiency), McArdle, Tarui, DiMauro disease (muscle phosphoglycerate mutase def.)

Front 73

What is a distinguishing feature of Miyoshi myopathy?

Back 73

neck flexion weakness

Front 74

How is tetany different from spasms?

Back 74

affects distal segments of extremities, facial and largyngeal muscles. Also EMG of tetany would show repetitive MUAPs

Front 75

What is Chvostek sign?

Back 75

A sign of hypocalcemic tetany (usually). Tap the facial nerve at angle of jaw, facial muscle and see contraction of the same side

Front 76

What is Trousseau's sign?

Back 76

spasm of hand and forearm after compression of the brachial artery for 5 minutes

Front 77

What is Erb sign?

Back 77

increased electrical activity to the muscle in galvanic current

Front 78

What is Satoyoshi syndrome?

Back 78

painful muscle contractions, spasms but also associated with alopecia, diarrhea, skeletal and endocrine abnormality. (onset age 10-20) associated with antiB to GAD, AchR and nuclear

Front 79

What is Morvan syndrome?

Back 79

neuromyotonia assoc with autonomic or CNS dysfxn: confusion, spatial and temporal disorientation, hallucinations, progressive nocturnal insomnia

Front 80

What is neuromyotonia?

Back 80

a burst of activity at the highest frequency on EMG associated with decrementing at 150-300 HZ

Front 81

What is positive muscle phenomena is associated with episodic ataxia type 1?

Back 81

generalized myokymia, associated with K+ channel abnormality

Front 82

What screening serum tests should be performed on a patient with suspected peripheral nerve hyperexcitability syndrome?

Back 82

VGKC antibodies (35-54% may have) and AchR antibody

Front 83

What is the definition of myokymia?

Back 83

These are bursts of single motor unit action potentials that occur at regular or irregular intervals at 5-150 HZ

Front 84

What are the features of Isaac Syndrome?

Back 84

visible myokymia with muscle cramps, stiffness, muscle hypertrophy, hyperhidrosis and neuromyotonia

Front 85

what is the differential diagnosis for myotonic discharges on EMG?

Back 85

myotonic dystrophies, non-dystrophic myotonias, hypothyroidism, meds:clofibrate, statins, propranolol, colchicine, penicillamine, Isaac Syndrome, IBM, polymyositis, active denervation

Front 86

What is the triad for rippling muscle disease?

Back 86

percussion induced rapid contraction, myoedema, rippling muscles, usually associated with caveolin-3 mutation

Front 87

What are the features of caveolin-3 related limb girdle muscular dystrophy?

Back 87

distal myopathy, hyperCKemia, and familial hypertrophic cardiomyopathy

Front 88

What are the features of HSPB1 or HSPB8 associated with dHMN?

Back 88

posterior compartment predilection, lower limb affected first, usually adulthood or juvenile, intact or brisk reflexes*

Front 89

What are the features of GARS related to distalHMN?

Back 89

phenotype is usually upper limb distal predominant, but can present in patients with lower limb; usually in the second decade of life in 75% of patients, but can present later if there is reduced penetrance (up to age 49)