Neuromuscular buzz phrases - ch 9,10,11

Question 1

orange tonsils and neuropathy

Answer 1

tangier’s disease

Question 2

albuminocytologic dissociation

Answer 2

guillan barre syndrome

Question 3

acute motor and sensor axonal neuropathy

Answer 3

GM1, GM1b, GD1a

Question 4

finger abduction

Answer 4

dorsal interossei (DAB: dorsal, abduct)

Question 5

finger adduction

Answer 5

palmar interossei (PAD: palmar, adduct)

Question 6

Benedictine sign

Answer 6

median neuropathy, on attempt to make a fist, absent flexion of first digit, partial flexion of second digit, complete flexion of fourth and fifth digits.

Question 7

claw hand

Answer 7

ulnar neuropathy. on attempt to make a fist the fourth and fifth digits hyperextend at the metacarpophalangeal joint and partially flex at the interphalangeal joint.

Question 8

wartenberg’s sign

Answer 8

ulnar neuropathy. fifth digit abduction at rest.

Question 9

froment’s sign

Answer 9

ulnar neuropathy. during attempted forceful adduction of the thumb, as with attempt to hold a piece of paper between the thumb and index finger, thumb flexion occurs

Question 10

intrinsic hand weakness in frequent bicycle rider

Answer 10

ulnar neuropathy due to compression in Guyon’s canal

Question 11

wrist drop with strong forearm extension, reduced sensation over lateral arm

Answer 11

radial neuropathy at the spinal groove

Question 12

OK sign

Answer 12

anterior interosseous neuropathy. On attempt to make an okay sign, the distal phalanges are unable to flex, and instead, the fingertip pulps touch. Weakness of flexor digitorum profundus to the second and third digits, flexor pollicis longus, and pronator quadratus, no sensory loss.

Question 13

miller fisher syndrome

Answer 13

GQ1b

Question 14

acute sensory neuronopathy

Answer 14

GD1b

Question 15

multifocal motor neuropathy with conduction block

Answer 15

GM1

Question 16

sensory ataxia, asymmetric sensory loss, areflexia, normal strength, reduced SNAPs with normal SMAPs

Answer 16

sensory neuronopathy

Question 17

paraneoplastic neuropathy and/or neuronopathy associated with small cell lung cancer

Answer 17

Anti-Hu

Question 18

inflammatory demyelinating polyneuropathy for more than 8 weeks

Answer 18

chronic inflammatory demyelinating polyneuropathy

Question 19

inflammatory demyelinating polyneuropathy for less than 4 weeks

Answer 19

acute inflammatory demyelinating polyneuropathy

Question 20

wrist drop with weak forearm extensors in an alcoholic

Answer 20

saturday night palsy; proximal radial nerve injury, prior to spiral groove

Question 21

bilateral carpal tunnel, family history of carpal tunnel, mild sensory polyneuropathy (diagnosis, protein)

Answer 21

familial amyloid polyneuropathy type 2, transthyretin

Question 22

corneal dystrophy, multiple nranial neuropathies peripheral sensorimotor neuropathy

Answer 22

familial amyloid polyneuropathy type 4

Question 23

asymmetric demyelinating neuropathy affecting several motor nerves

Answer 23

multifocal motor neuropathy

Question 24

asymmetric demyelinating neuropathy affecting several motor and sensory nerves

Answer 24

multifocal acquired demyelinating sensory and motor neuropathy

Question 25

hammertoes, high arched feed, pes cavus

Answer 25

Charcot Marie Tooth (CMT)

Question 26

most common type of SMT, mode of inheritance, type (axonal vs. demyelinating)

Answer 26

CMT1, autosomal dominant demyelinating )note: second most common type is X-linked CMT)

Question 27

duplication in peripheral myelin protein 22 (PMP22) gene on chromosome 17

Answer 27

CMT1A (note: CMT1 is also known as HSMN1)

Question 28

deletion in peripheral myelin protein 22 (PMP22) gene on chromosome 17

Answer 28

hereditary neuropathy with liability to pressure palsies

Question 29

gene mutated in X-linked CMT

Answer 29

connexin 32 gene

Question 30

demyelinating neuropathy with monoclonal gammopathy

Answer 30

anti-mag

Question 31

sensory loss, acral mutilation, autonomic symptoms

Answer 31

hereditary sensory and autonomic neuropathy

Question 32

episodes of painful burning in the hands and feet with head exposure and exercise

Answer 32

primary erythromelalgia (can also occur in Fabry's dz)

Question 33

acute motor axonal neuropathy

Answer 33

GM1, GM1b, GD1a, GalNac-GD1a

Question 34

painful sensory polyneuropathy, autonomic dysfunction, cardiac and renal involvement, family history of the same

Answer 34

familial amyloid polyneuropathy type 1, transthyretin. consider Fabry's disease (if inheritance is x-linked in a patient with these manifestations)

Question 35

porphyria in which photosensitivity does not occur

Answer 35

acute intermittent porphyria

Question 36

angiokeratoma

Answer 36

purplish lesion seen on trunk, scrotum in Fabry's disease

Question 37

enzyme deficiency in Fabry's disease

Answer 37

alpha - galactosidase A

Question 38

mode of inheritance of Fabry's disease

Answer 38

X-linked

Question 39

retinitis pigmentosa, neuropathy

Answer 39

refsum's disease myoneurogastrointenstinal encephalopathy, neurogenic muscle weakness, ataxia and retinitis pigmentosa syndrome, abetalipoproteinemia

Question 40

retinitis pigmentosa, neuropathy, ataxia, very low density lipoprotein, acanthocytes on peripheral smear

Answer 40

abetalipoproteinemia, Bassen-Kornzweig s/o, autosomal recessive.

Question 41

acute onset of dysautonomia in a smoker with a lung mass

Answer 41

paraneoplastic autonomic gangionopathy antibody against ganglionic nicotinic acetylcholine receptor

Question 42

horner's syndrome with intact facial sweating

Answer 42

lesion distal to carotid bifurcation (as sweat fibers travel along external carotid)

Question 43

throat, tongue, ear pain associated with syncope

Answer 43

glossopharangeal neuralgia

Question 44

tilt table test showing increase in heart rate of at least 30 bpm from baseline or to more than 120 bpm within 10 minutes of head up tilt without significant changes in blood pressure, but with symptoms of orthostasis

Answer 44

postural orthostatic tachycardia syndrome, the most common form of dysautonomia

Question 45

emery-dreifuss (gene, inheritance)

Answer 45

LMNA, autosomal dominant. Emerin, X-linked

Question 46

central core myopathy (gene, pathologic finding, clinical association)

Answer 46

RYR1 | central pale cores in NADH stains from absence of mitochondria. associated with malignant hyperthermia

Question 47

tarul disease (enzyme)

Answer 47

phosphofructokinase deficiency

Question 48

cause of hirschsprung's disease

Answer 48

maldevelopment with focal absence of the myenteric plexus, sometimes due to RET proto-oncogene mutation

Question 49

becker's muscular dystrophy (protein, inheritance)

Answer 49

abnormal or reduced dystrophin, x-linked recessive

Question 50

Cori disease (enzyme)

Answer 50

debranching enzyme deficiency

Question 51

syncope with hypotension and bradycardia after putting on a tight neck tie

Answer 51

carotid sinus hypersensitivity

Question 52

anti-muscle specific tyrosine kinase antibodies

Answer 52

fifty percent of seronegative myasthenics, predominantly involving swallowing, neck flexors

Question 53

mcardle's disease (enzyme)

Answer 53

myophosphorylase deficiency

Question 54

dermatomyositis (pathologic findings)

Answer 54

perifascicular atrophy

Question 55

myotonic dystrophy DM1 (gene affected)

Answer 55

GCG repeat, PABP2 gene

Question 56

inclusion body myositis (pathologic findings)

Answer 56

rimmed vacuoles

Question 57

critical illness myopathy (pathologic finding)

Answer 57

myosin loss

Question 58

andersen's disease (enzyme)

Answer 58

branching enzyme deficiency

Question 59

motor neuron disease with both upper and lower motor neuron involvement

Answer 59

amyotrophic lateral sclerosis

Question 60

survival motor neuron 1 gene

Answer 60

spinal muscular atrophy

Question 61

motor neuron disease with only lower motor neuron involvement

Answer 61

progressive muscular atrophy, spinal muscular atrophy, benign focal amyotrophy

Question 62

subacute combined degeneration of the spinal cord

Answer 62

vitamin B12 deficiency

Question 63

postgastric bypass neurologic syndrome

Answer 63

copper deficiency

Question 64

anterior two thirds of the spinal cord

Answer 64

anterior spinal artery

Question 65

posterior third of the spinal cord

Answer 65

posterior spinal arteries

Question 66

Devic's disease, aquaporin-4

Answer 66

neuromyelitis optica

Question 67

nitrous oxide toxicity, associated with B12 depletion

Answer 67

anesthesia paresthetica

Question 68

HIV related myelopathy

Answer 68

vacuolar myelopathy

Question 69

large radicular artery supplying lower thoracic and upper lumbar region

Answer 69

adamkiewicz

Question 70

ipsilateral loss of motor function and sensation to vibration and proprioception below the level of the lesion, with contralateral loss of sensation to pain and temperature

Answer 70

brown-sequard syndrome

Question 71

adrenomyeloneuropathy, x-linked

Answer 71

ABCD1 gene on chromosome Xq28

Question 72

chronic steroid use

Answer 72

epidural lipomatosis