PNS - Puthoff Flashcards by Alex Hamidi

MG has a 30% association w/what?

10% w/what?

Thymic hyperplasia (B-cell follicles)

Thymoma (epithelial cells)

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

Mutation? Chromosome?

Inheritance?

NF type 1

NF1 Ch. 17

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DMD mutation?

Inheritance?

Deletion or frame shift in dystrophin

X-linked

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

Onset?

What confers a worse prognosis?

Most pts die when?

What is normal?

SMA 1 - Werdnig-Hoffman disease

Severe weakness before 6mo

Problems sucking or swallowing

Age 2

Cognitive development

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

Dermatomyositis

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Describe type 2 fibers:

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

Fast twitch
White
Anaerobic 
MYH2, 4, 1
Fast movement

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

Antibodies to what?

What confers a poor response?

Inclusion body myositis

CN1A

Poor response to steroids and immunosuppression

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Familial amyloid polyneuropathy has mutated what?

Transthyretin

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What is the most common acquired inflammatory peripheral neuropathy?

Chronic inflammatory demyelinating poly(radiculo)neuropathy

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DMD frequent characteristic?

Live until when?

Die bc of what?

Calf pseudohypertrophy

25-30

Cardiomyopathy, pulmonary infection, HF, resp infection

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Chronic inflammatory demyelinating poly(radiculo)neuropathy morphology?

Tx?

Onion bulbs

Corticosteroids, IVIG, plasmapheresis

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What causes facial and shoulder girdle weakness?

Inheritance?

Mutation?

Fascioscapulohumeral dystrophy

DUX4

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What toxic entities can cause neuropathy?

Alcohol
Lead
Organic solvents
Chemo

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What has a glove and stocking pattern of neuropathy?

Diabetes

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What causes increased schwannomas, meningiomas, ependymomas?

Mutation? Chromosome?

Inheritance?

NF type 2

NF2 - merlin, ch. 22

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

Inheritance?

Mutation?

Myotonic dystrophy

AD - CTG triplet repeat

CLC1 for myotonic and DMPK

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What is Kearns-Sayre syndrome?

Ophthalmoplegia
Pigment degen of retina
Complete heart block

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Describe type 1 fibers:

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

1 slow red ox

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

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

Diffuse neurofibroma

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Inheritance of SMA?

Mutation? Chromosome?

Morphology?

SMN1, ch. 5

Multiple atrophic rounded myofibers

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

+ for what?

Schwannoma

S-100

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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?

Dermatomyositis

Anti-Jo1

40-60

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

Age group?

Inclusion body myositis

> 50

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

Inheritance?

Mutation?

CMT2

MFN2

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

Botulism

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

Smoking Alcohol Both inc. risk for infection

What has been associated w/high incidence of Gillian-Barre? What vector? Who is likely to get it?

Zika virus Aedes mosquito Danny, he's fucked when he goes to Zimbabwae or South America for the dumbass global health "honors" track

What causes humeroperoneal weakness, cardiomyopathy, and early contractures? Inheritance? Mutation?

Emery-Dreifuss MD X-linked, Autosomal EMD1, EMD2 respectively

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?

Superficial cutaneous neurofibroma

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

Tuberous sclerosis

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?

SMA Chewing, swallowing, breathing difficulty

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

Inclusion body myositis

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

Plexiform neurofibroma MPNST

What causes early onset hypotonia and weakness (floppy infant), skeletal abnormalities and foot deformities? Mutation? Inheritance? Can progress to what?

Central-core disease RYR1 AD Malignant hyperthermia

What compression neuropathies are most common?

CTS | Morton's neuroma

Triton tumor of MPNST has what morphology?

Rhabdomyoblastic differentiation

Juvenile dermatomyositis prognosis? Age? More associated with what?

Better than adult 7 y/o avg Calcinosis and lipodystrophy

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

Schwannoma

What can cause a neurogenic bladder?

Diabetes MS Parkinson's

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

Polymyositis

What is a major cause of myopathy due to toxin?

Statins

SMA2 pts show sx when? CF? SMA3 (Kugelberg-Welander)? SMA4?

Before age 1, never walk After age 1, walk a little After age 10

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

Polymyositis CD8+ CTLs

Lambert-Eaton syndrome pathogenesis? CF?

autoAbs block ACh release by inhibition of presynaptic Ca channel Weakness of extremities IMPROVES w/repetitive stimulation

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

Limb-girdle muscular dystrophy

What causes chronic inflammatory demyelinating polyradiculoneuropathy?

Guillain-Barre

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

Mitochondrial myopathy Ragged red fibers Phonograph records and rhomboid paracrystalline inclusions

Is Bell's palsy ipsilateral or contralateral nerve lesion?

Ipsilateral CN 7

Lambert-Eaton syndrome may have what underlying malignancy? Pts w/out cancer may have what?

Neuroendocrine carcinoma of the lung (small cell carcinoma) Vitiligo or thyroid disease

What blocks AChR's causing flaccid paralysis?

Curare

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

CMT1 AD PMP22 on ch. 17

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

Central core disease

Pathogenesis of MG? CF?

Autoimmune w/Abs against AChR Painless weakness, diplopia, ptosis Weakness that WORSENS throughout the day

CF of dermatomyositis? Tx?

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

What paraneoplastic syndrome can cause neuropathy?

Small cell lung cancer

CF of Guillain-Barre? Pathogenesis? CSF content? Tx?

Ascending paralysis and areflexia (b/l) T cell and circulating Ab and subsequent demyelination Inc protein, scant wbc Plasmapheresis and IVIG

What does POEMS cause? What does it stand for?

Demyelinating neuropathy w/paraproteins ``` Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes ```

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

Chronic inflammatory demyelinating poly(radiculo)neuropathy

What is a unilateral mononeuropathy that occurs bw 15-50 and generally resolves spontaneously? Often assoc w/what? CF?

Bell's palsy Uri 1-sided facial droop that comes on over 48 hours

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?

Guillain-Barre

How does nerve damage occur in diabetic neuropathy?

Ascending, distal, symmetric

PNS - Puthoff Flashcards

(61 cards)