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Cheng-Ching Questions > Neuromuscular > Flashcards

Neuromuscular Flashcards

1
Q

Mutation in giant axonal neuropathy?

A

GAN gene (gigaxonin)

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2
Q

How does Refsum disease present?

A

neuropathy, hearing loss, anosmia, ataxia, cerebellar signs, retinitis pigmentosa, cardiomyopathy, skin changes

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3
Q

How does Giant axonal neuropathy present?

A

sensorimotor neuropathy, corticospinal tract involvement with UPMN signs, and optic atrophy, tightly curled hair
*walk on inner edges of feet

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4
Q

What is a prominent feature in myoneurogastrointestinal encephalopathy?

A

intestinal pseudoobstruction
*opthalmoparesis, demyelinating neuropathy

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5
Q

what is the mutation in myoneurogastrointestinal encephalopathy?

A

thymidine phosphorylase

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6
Q

Abetalipoproteinemia is what?

A

abnormal very low density lipoprotein secretion
*deficiency in vit D, E, K, A

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7
Q

LEMS have what kind of response to rapid repetitive stimunlation?

A

incremental
*(20-50 hz)

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8
Q

MG shows what with repetitive stimulation?

A

decrement with SLOW repetitive stim (2-3 Hz)

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9
Q

Type 1 muscle fibers

A

SLOW oxidative, red
*slow red ox

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10
Q

Type 2a muscle fibers

A

fast oxidative glycolytic fibers
*fast and resistent to fatigue

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11
Q

Type 2b muscle fibers

A

fast - oxidative glycolytic fibers, but low oxidative capacity

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12
Q

What is albuminocytolic dissociation?

A

increased protein but normal cell count

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13
Q

When does wallerian degeneration occur?

A

7-10 from the injury

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14
Q

A focal nerve injury can cause what?

A

conduction block

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15
Q

What does FAP1 present?

A

-3rd to 4th decade of life
-small and large nerve fibers are affected, but loss of pain and temp are most pronounced
-pains, autonomic dysfunction (sex, orthostatic, urinary, GI)
-cardiac and renal

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16
Q

FAP1 and 2 are caused from various mutations of what gene?

A

transthyretin

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17
Q

FAP2 presents how?

A

-later than FAP1, 4th and 5th decades
-main features are carpal tunnel with slowly progressive polyneuropathy,
NO autonomic features

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18
Q

FAP3 presents how?

A

-like FAP1 but with eariler renal involvement and more GI issues, duodenal ulcers
-abnormalities in Apolipoprotein A1

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19
Q

FAP4 presents how?

A

corneal dystrophy, neuropathies, skin chnages
-cranial nerves 7, 8, 12 more commonly affected
-abnormalities in amyloid protein gelsolin

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20
Q

Which forms of CMT are demyelinating?

A

CMT1, CMT3, and CMTX

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21
Q

CMT1A presents how?

A

-1st 2 decades of life
-progressive weakness, muscle atrophy, hyphosis, sensory loss
-hammertoes, high arched feet, palpably enlarged nerves, pes cavus

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22
Q

Gene in CMT1A?

A

duplication of PMP22

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23
Q

Gene in CTM1B

A

myelin protein 0 gene

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24
Q

CMT1B presents how?

A

more severe compared to CMT1A

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25
Q

What type of inheritence in CMT1?

A

AD

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26
Q

What type of inheritence in CMTX

A

x-linked
*mutation in connexin 32 gene

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27
Q

What type of neuropathies are CMT2?

A

axonal

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28
Q

Clinical features in CMT2B?

A

foot ulcerations

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29
Q

Clinical features in CMT2A2?

A

optic atrophy

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30
Q

Clinical features of CMT2C?

A

vocal cord paralysis, intercostal and diaphragmatiic weakness

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31
Q

CMT3 presents how?

A

infancy, proximal weakness, absent reflexes, hypertrophy of peripheral nerves

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32
Q

Deletion of PMP22 gene is associated with what?

A

hereditary neuropathy with liability to pressure palsies

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33
Q

Nerve biopsy of HNPP shows what?

A

tomacula (focal, sausage like areas of thickening in the myelin)

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34
Q

Inferior gluteal nerve innervates what?

A

gluteus maximus

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35
Q

superior gluteal nerve innervates what?

A

gluteus medius, minimus and TFL

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36
Q

Lesion in deep peroneal nerve causes what?

A

foot drop, inability to dorsiflex
without impairing eversion of foot

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37
Q

Gene in Tangier disease?

A

ABCA1 gene, 9q31
*adenosine triphosphate cassette transporter protein

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38
Q

What nerve provides innervation to semimembranosus, semitendinosus, and long head of biceps femoris?

A

tibial nerve

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39
Q

Do patients with MMN (multifocal motor neuropathy) have a good response to steroids or PLEX?

A

no

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40
Q

Which types of CMT are autosomal recesssive?

A

CMT4

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41
Q

How does diabetic amyotrophy present?

A

during a transition (initiation or adjustment of insulin), preceding unintentional weight loss, low back pain radiating down lower limb, severe pain at night
then days to weaks later develop weakness and atrophy involving pelvic girdle and thighs

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42
Q

Ulnar nerve is most suspectible to injury where?

A

postcondylar groove

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43
Q

Pain, numbness and paresthesias in anterolateral thigh?

A

meralgia paresthetica

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44
Q

What nerve is associated if someone can’t make the okay sign

A

anterior interosseous nerve

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45
Q

Is radiation induced plexopathy painful or painless?

A

painless

46
Q

protnator teres syndrome results from what?

A

compression of the median nerve as it passes through the 2 heads of the pronator teres
*associated with medial epicondylitis, or golfers elbow

47
Q

where is the most common site of radial nerve injury?

A

spiral groove

48
Q

What can cause a superficial sensory radial neuropathy?

A

tight handcuffs, watches, venipuncture, surgery

49
Q

What are the symptoms of superficial sensory radial neuropathy?

A

numbness, dysesthesias over dorsolateral aspect of hand

50
Q

Deficiency in Fabry’s disease?

A

alpha galacosidase A
*accumulation of globotriaosylcermamide –>can lead to dolichoectasia, increasing risk of thrombosis

51
Q

HSAN1

A

-AD
-starts in young adulthood
-painful sensory symptoms
-sensory loss with pain and temp more affected
-main autonomic manifestation is hypohidrosis

52
Q

Gene mutated in HSAN1?

A

gene encoding for serine palmitoyltransfersase

53
Q

HSAN2

A

-starts in infancy
-generalized loss of sensation and insensitivity to pain
-risk of mutilation of hands, feet, lips, tongue
-autonomic symptoms are not prominent
-normal cognition
-areflexia, retinitis pigmentosa

54
Q

HSAN3

A

AKA familial dysautonomia
-AR
-prominent autonomic features
-dysphagia, vomiting, recurrent infections, BP lability
-no lacrimation
-smooth tongue

55
Q

HSAN3 is due to what mutation?

A

IKAP gene
-abnormal mRNA splicing

56
Q

HSAN4

A

AKA congenital insensitivity to pain
-AR
-insensitivity to pain-leading to repeated injury, self mutilation
-cognitive delay
-hyperactivity
-anhidrosis, heat intolerance, frequent fevers

57
Q

What is mutated in HSAN4

A

tyrosine kinase receptor for nerve growth factor NTRK1

58
Q

Cryoglobulins are what?

A

immunoglobulins that precipiate when exposed to cold temps and redissolve on rewarming

59
Q

are complement levels elevated or reduced in cryoglobulinemia?

A

reduced

60
Q

clinical manifestations of cryoglobulinemia?

A

constitutional symptoms, palpable purpura, arthralgias, LAD, peripheral neuropathy, hepatosplenomegaly

61
Q

What is primary erythromelalgia?

A

-AR
-episodes of severe burning and erythema in distal extremities
-can be triggered by either heat or cold
-mutation in voltage gated sodium channel SCN9A

62
Q

Erb’s palsy

A

upper trunk lesion

63
Q

Are superficial peroneal SNAP normal in L5 radiculopathies?

A

yes
*abnormal in common peroneal nerve lesions

64
Q

What can you use to treat HYPOkalemic periodic paralysis?

A

carbonic anhydrase inhibitors and potassium sparing diuretics

65
Q

Gene for HYPOkelamic PP?

A

CACNA1S
*less often SCN4A

66
Q

Triggers for HyPOkalemic PP

A

exercise, carbs, ethanol, cold exposure, emotional stressors

67
Q

Triggers for HYPERkalemic PP

A

fasting, exercise

68
Q

Botulinum toxin inhibits what?

A

exocytosis of presynpatic vesicles containing Ach

69
Q

Gene in myotonic dystrophy 2?

A

CCTG

70
Q

How does Fukuyama present?

A

hypotonic, floppy, joint contractures, ocular and CNS abnormalities

71
Q

Muscular dystrophy in French - Canadian person?

A

oculopharyngeal muscular dystrophy
*AD

72
Q

Gene associated with myotonic dystrophy 1?

A

CTG

73
Q

ptosis, facial weakness, frontal balding, atrophy of masseters/temporalis, weakness and atrophy of small muscles of hands, peroneals

A

myotonic dystrophic 1

74
Q

McArdle’s disease defienecy

A

myophosphorylase deficiency

75
Q

Which glycogen storage disease get a “second wind” phenomenon?

A

McArdles

76
Q

Nonaka myopathy

A

-onset early adulthood
-foot drop with weakness in anterior tibial muscles
-eventually will get involvement of upper extremities (flexors)
-A.R distal myopathy

77
Q

Gene associated with Nonaka myopathy?

A

GNE, chromosome 9

78
Q

MOA of pyridostigmine?

A

acetylcholinesterase inhibitor

79
Q

Central core myopathy gene?

A

RYRI
*be careful with anesthesia

80
Q

Autonomic ganglionopathy presents how?

A

-develop over weeks
-dysfunction of parasympathetic and sympathetic systems
-antibody to ganglionic nicotinic acetylcholine receptor

81
Q

Miyoshi myopathy

A

-AR
-weakness and atrophy in distal leg muscles, predominately posterior compartment
-mutation in dysferlin or ANO5

82
Q

Is dystrophin absent in Becker’s MD?

A

no, just abnormal or found in smaller amounts

83
Q

Pure autonomic failure is due to what?

A

loss of intermediolateral cell column neurons
*deposition of alpha synuclein in autonomic nervous system

84
Q

Adult onset periodic paralysis is suggestive of what?

A

a possible secondary cause
ie thyrotoxic perioidic paralysis
*more common in asians

85
Q

How does trichinosis present?

A

elevated CK, elevated eosinophils, fever, myalgias, fatigue, edema of eyelids and conjuctiva, ocular muscle weakness

86
Q

congential myasthenic syndrome

A

opthalmoparesis, ptosis in infancy, facial diparesis
*most common form is congential achetylcholine receptor deficiency

87
Q

Mutation in emery-dreifuss MD?

A

X linked form- emergin
AD - LMNA

88
Q

How does emery dreifuss present?

A

contractures, weakness
NO pseudoatrophy of calves
normal IQ

89
Q

neonatal weakness, contractures, distal hyperlaxity and protrusion of calcanei. Diagnsois?

A

Ullrich’s congenital MD

90
Q

Does myotonia congentia have a warm up phenomenon?

A

yes– myotonia improves with repetitive muscle activation

91
Q

Myopathy that is associated with mutations in collagen type VI?

A

Bethlem myopathy

92
Q

Primary lateral sclerosis presents how?

A

upper motor neuron signs at least 3 years
No lower motor neuron signs

93
Q

What is the path behind HIV related myelopathy?

A

vacular myelopathy, lateral and posterior column demyelination with microvaculour changes and axnal preservation

94
Q

Hereditary spastic paraparesis presents how?

A

progressively worsening spasticity of lower extremities

95
Q

Progressive muscular atrophy presents how?

A

-only affects lower motor neurons
-focal asymmetric distal weakness that later involves proximal regions
-earlier onset and survive longer compared to ALS

96
Q

Neurotoxic disorder presenting as myelopathy, subacute spastic paraparsis in ethiopia, india and bangladesh?

A

lathyrism - consumption of lathyrys sativus (legume)

97
Q

Konzo

A

spastic paraparesis, abrupt onset, some invovlement of visual pathways
*africa.. consumption of poorly processed cassava

98
Q

What kind of virus is west nile?

A

flavivirus
*mosquitos

99
Q

meningitis, encephalitis, myeloradiculitis diagnosis?

A

west nile

100
Q

West nile presentation

A

AMS, GI symptoms, back pain, flaccid weakness, areflexia, proximal and asymmetric weakness

101
Q

Polio is caused by what?

A

an enterovirus

102
Q

Polio symptoms

A

areflexic flaccid paralysis
*does NOT commonly cause AMS

103
Q

CSF in NMO

A

elevated WBC, elevated protein, normal glucose

104
Q

Cauda equina syndrome presents how

A

radicular pain, asymmetric deficits, hyporeflexia
*LOWER MOTOR NEURON

105
Q

How does Kennedy’s disease present?

A

proximal weakness with LMN signs
-fasiculations involving face
-GYNECOMASTIA
-endocrine abnormalities

106
Q

Mutation in Kennedy’s disease?

A

expansion of CAG repeat in androgen receptor protein on X chromosome

107
Q

How does SMA 1 present?

A

decreased fetal movements, neonatal hypotonia, weak cry
-head lag, frog leg posture when supine
-never can sit up
-DIE BY AGE 2

108
Q

How does SMA 2 present

A

-start 1-2 years of life
-motor delay and tremor
-less severe than SMA1
-can sit unsupported, but develop contractures
-cant ambulate

109
Q

How does SMA 3 present

A

-ages 5-15
-proximal weakness, tremor, fasiculations
-remain ambulatory into adulthood

110
Q

How does SMA 4 present

A

least common and least severe
-3rd-4th decade, prox weakness with quads being involved, fasicultaitons

111
Q

Patients with B12 deficiency who get nitrous oxide can present as what?

A

anesthesia paresthetica
-myelopathy, neuropathy, encepahlopathy

112
Q

How does Hirayama disease present?

A

-asians
-progressive asymmetric wasting of one or both hands/forearms
-MRI c spine shows cervical cord thinning with signal changes

Cheng-Ching Questions (7 decks)

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