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MSK 2 - AH > PNS - Puthoff > Flashcards

PNS - Puthoff Flashcards

1
Q

MG has a 30% association w/what?

10% w/what?

A

Thymic hyperplasia (B-cell follicles)

Thymoma (epithelial cells)

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2
Q

What causes mental retardation, seizures, Lisch nodules, cafe au lait spots?

Mutation? Chromosome?

Inheritance?

A

NF type 1

NF1 Ch. 17

AD

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4
Q

DMD mutation?

Inheritance?

A

Deletion or frame shift in dystrophin

X-linked

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7
Q

80% of pt w/SMA fall into what category?

Onset?

What confers a worse prognosis?

Most pts die when?

What is normal?

A

SMA 1 - Werdnig-Hoffman disease

Severe weakness before 6mo

Problems sucking or swallowing

Age 2

Cognitive development

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8
Q

What has the morphology of perifascicular atrophy of muscle fibers and inflammation, EM shows tubuloreticular endothelial cell inclusions?

A

Dermatomyositis

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9
Q

Describe type 2 fibers:

Twitch?
Color?
Type of exercise?
Myosin heavy chain expressed?
Action?
A 
Fast twitch
White
Anaerobic 
MYH2, 4, 1
Fast movement
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11
Q

What is the most common inflammatory myopathy in pts > 65 y/o?

Antibodies to what?

What confers a poor response?

A

Inclusion body myositis

CN1A

Poor response to steroids and immunosuppression

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13
Q

Familial amyloid polyneuropathy has mutated what?

A

Transthyretin

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16
Q

What is the most common acquired inflammatory peripheral neuropathy?

A

Chronic inflammatory demyelinating poly(radiculo)neuropathy

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18
Q

DMD frequent characteristic?

Live until when?

Die bc of what?

A

Calf pseudohypertrophy

25-30

Cardiomyopathy, pulmonary infection, HF, resp infection

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19
Q

Chronic inflammatory demyelinating poly(radiculo)neuropathy morphology?

Tx?

A

Onion bulbs

Corticosteroids, IVIG, plasmapheresis

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20
Q

What causes facial and shoulder girdle weakness?

Inheritance?

Mutation?

A

Fascioscapulohumeral dystrophy

AD

DUX4

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21
Q

What toxic entities can cause neuropathy?

A

Alcohol
Lead
Organic solvents
Chemo

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23
Q

What has a glove and stocking pattern of neuropathy?

A

Diabetes

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24
Q

What causes increased schwannomas, meningiomas, ependymomas?

Mutation? Chromosome?

Inheritance?

A

NF type 2

NF2 - merlin, ch. 22

AD

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25
Q

What causes skeletal m. Weakness, cataracts, endocrinopathy and cardiomyopathy?

Inheritance?

Mutation?

A

Myotonic dystrophy

AD - CTG triplet repeat

CLC1 for myotonic and DMPK

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26
Q

What is Kearns-Sayre syndrome?

A

Ophthalmoplegia
Pigment degen of retina
Complete heart block

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27
Q

Describe type 1 fibers:

Twitch?
Color?
Type of exercise?
Myosin heavy chain expressed?
Action?
A

1 slow red ox

Slow twitch
Red fibers
Inc mitochondria, Inc ox phos
MYH7
Aerobic exercise
Sustained force
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28
Q

What has morphology of plaque like appearance, pseudo Meissner corpuscles or tactile-like bodies?

A

Diffuse neurofibroma

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29
Q

Inheritance of SMA?

Mutation? Chromosome?

Morphology?

A

AR

SMN1, ch. 5

Multiple atrophic rounded myofibers

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30
Q

What has morphology of Antoni A and B bodies, Verocay bodes, has spindle elongated nucleus w/wavy or buckled shape?

+ for what?

A

Schwannoma

S-100

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32
Q

What is a systemic autoimmune disease that presents w/prox muscle weakness and skin changes? Damage to small blood vessels contributes to muscle injury.

What Abs does it have?

What age group?

A

Dermatomyositis

Anti-Jo1

40-60

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33
Q

What has morphology of rimmed vacuoles, Beta-amyloid, TDP-43, ubiquitin, and tubulofilamentous inclusions in myofibers?

Age group?

A

Inclusion body myositis

> 50

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34
Q

What presents as an axonal injury neuropathy that is severe and has onset in early childhood?

Inheritance?

Mutation?

A

CMT2

AD

MFN2

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35
Q

What causes flaccid paralysis b/l, blocks ACh release from pre-synaptic terminal?

A

Botulism

37
Q

What can damage both nerves and blood vessels and exacerbate diabetic neuropathy?

A

Smoking
Alcohol
Both inc. risk for infection

38
Q

What has been associated w/high incidence of Gillian-Barre?

What vector?

Who is likely to get it?

A

Zika virus

Aedes mosquito

Danny, he’s fucked when he goes to Zimbabwae or South America for the dumbass global health “honors” track

39
Q

What causes humeroperoneal weakness, cardiomyopathy, and early contractures?

Inheritance?

Mutation?

A

Emery-Dreifuss MD

X-linked, Autosomal

EMD1, EMD2 respectively

40
Q

What has morphology of nodular, in the dermis and sq fat, admixed w/stromal cells, perineural cells, CD34+, spindle cells and fibroblasts, stroma has loose collagen?

A

Superficial cutaneous neurofibroma

43
Q

What causes brain tubers, hamartomas, renal angiomyolipomas, pulmonary lymphoangioleiomyomatosis and cardiac rhabdomyomas?

A

Tuberous sclerosis

44
Q

What is characterized by degeneration of nerve cells within the lower brainstem and anterior horn cells leading to muscle weakness of the truncal and extremity muscles?

Followed by what sx?

A

SMA

Chewing, swallowing, breathing difficulty

46
Q

What is a slowly progressive muscle weakness that is more severe in the QUADS and DISTAL UE, has dysphagia, inc CK?

A

Inclusion body myositis

49
Q

What has morphology of ropy thickening of multiple nerve fascicles resembling a bag of worms and shredded carrots?

Can transform to what?

A

Plexiform neurofibroma

MPNST

50
Q

What causes early onset hypotonia and weakness (floppy infant), skeletal abnormalities and foot deformities?

Mutation?

Inheritance?

Can progress to what?

A

Central-core disease

RYR1

AD

Malignant hyperthermia

53
Q

What compression neuropathies are most common?

A

CTS

Morton’s neuroma

55
Q

Triton tumor of MPNST has what morphology?

A

Rhabdomyoblastic differentiation

56
Q

Juvenile dermatomyositis prognosis?

Age?

More associated with what?

A

Better than adult

7 y/o avg

Calcinosis and lipodystrophy

59
Q

What causes hearing loss, tinnitus, and can affect trigeminal nerve or dorsal roots?

A

Schwannoma

60
Q

What can cause a neurogenic bladder?

A

Diabetes
MS
Parkinson’s

61
Q

What has the morphology of mononuclear infiltrate in the endomysium w/patchy distribution?

A

Polymyositis

62
Q

What is a major cause of myopathy due to toxin?

A

Statins

64
Q

SMA2 pts show sx when? CF?

SMA3 (Kugelberg-Welander)?

SMA4?

A

Before age 1, never walk

After age 1, walk a little

After age 10

66
Q

What is an adult onset inflammatory myopathy w/myalgia and weakness w/no cutaneous manifestations or vessel involvement?

What cells are involved?

A

Polymyositis

CD8+ CTLs

67
Q

Lambert-Eaton syndrome pathogenesis?

CF?

A

autoAbs block ACh release by inhibition of presynaptic Ca channel

Weakness of extremities
IMPROVES w/repetitive stimulation

70
Q

What is characterized by proximal muscle weakness and has AD and AR variations?

A

Limb-girdle muscular dystrophy

73
Q

What causes chronic inflammatory demyelinating polyradiculoneuropathy?

A

Guillain-Barre

74
Q

What presents w/weakness, Inc CK, rhabdomyolysis, EOM involvement common?

Morphology?

A

Mitochondrial myopathy

Ragged red fibers
Phonograph records and rhomboid paracrystalline inclusions

75
Q

Is Bell’s palsy ipsilateral or contralateral nerve lesion?

A

Ipsilateral CN 7

76
Q

Lambert-Eaton syndrome may have what underlying malignancy?

Pts w/out cancer may have what?

A

Neuroendocrine carcinoma of the lung (small cell carcinoma)

Vitiligo or thyroid disease

77
Q

What blocks AChR’s causing flaccid paralysis?

A

Curare

79
Q

What presents as a slowly progressive distal demyelinating motor and sensory neuropathy in the second decade?

Inheritance?

Mutation?

A

CMT1

AD

PMP22 on ch. 17

81
Q

What has morphology of demarcated central zones in which the normal arrangement of sarcomeres is disrupted and mitochondria # decreased?

A

Central core disease

89
Q

Pathogenesis of MG?

CF?

A

Autoimmune w/Abs against AChR

Painless weakness, diplopia, ptosis
Weakness that WORSENS throughout the day

90
Q

CF of dermatomyositis?

Tx?

A

Heliotrope rash of upper eyelids, Gottron papules, dysphagia, ILD, cardiac

Corticosteroids, immunosuppression

91
Q

What paraneoplastic syndrome can cause neuropathy?

A

Small cell lung cancer

93
Q

CF of Guillain-Barre?

Pathogenesis?

CSF content?

Tx?

A

Ascending paralysis and areflexia (b/l)

T cell and circulating Ab and subsequent demyelination

Inc protein, scant wbc

Plasmapheresis and IVIG

95
Q

What does POEMS cause?

What does it stand for?

A

Demyelinating neuropathy w/paraproteins

Polyneuropathy
Organomegaly
Endocrinopathy
Monoclonal gammopathy
Skin changes
97
Q

What has symmetrical mixed sensorimotor polyneuropathy that persists for > 2 months?

A

Chronic inflammatory demyelinating poly(radiculo)neuropathy

103
Q

What is a unilateral mononeuropathy that occurs bw 15-50 and generally resolves spontaneously?

Often assoc w/what?

CF?

A

Bell’s palsy

Uri

1-sided facial droop that comes on over 48 hours

107
Q

What has the morphology of inflammation of peripheral nerves manifested as perivenular and endoneurial infiltration of lymphocytes, macrophages, plasma cells and most inflammation occurs close to the nerve roots?

A

Guillain-Barre

116
Q

How does nerve damage occur in diabetic neuropathy?

A

Ascending, distal, symmetric

MSK 2 - AH (7 decks)

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