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SAE > NMD > Flashcards

NMD Flashcards

1
Q

What is the role of rapsyn at the NMJ?

A

Clusters AchR to the post synaptic region

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2
Q

What type of channels are antibodies in LEMS against?

A

Voltage gated P/Q calcium channels, presynaptic

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3
Q

What percent of LEMS patients have cancer?

A

50%

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4
Q

What happens to jitter blocking in LEMS

A

Decrease as firing rate increases

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5
Q

What are features of IgM monoclonal protein neuropathy?

A

Old male
Distal sensory polyneuropathy
Ataxia

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6
Q

What percentage of IgM monoclonal protein has anti-MAG?

A

2/3

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7
Q

Fluoxetine is used for what kind of CMS?

A

Slow channel CMS

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8
Q

Vacuoles containing PAS material show what?

A

Glycogen accumulation

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9
Q

What are some features of debrancher enzyme deficiency?

A

Adult
Distal weakness
Neuropathy
Cardiac and liver involvement

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10
Q

What gene is associated with MNGIE

A

Thymidine kinase gene

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11
Q

Which root level is most affected in neurogenic TOS?

A

T1 > C8

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12
Q

What gene is associated with hereditary brachial neuritis?

A

SEPT-9

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13
Q

How does 3,4-DAP improve myasthenic symptoms

A

Blocks voltage-gated K channels, prolonging nerve terminal depolarization

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14
Q

What kind of Ig is associated with anti-MAG neuropathy?

A

IgM

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15
Q

What is treatment of choice of anti-MAG neuropathy?

A

Rituximab

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16
Q

What diseases must be looked for with CSF WBC>10?

A

Lymphoma
Sarcoidosis
HIV
Lyme disease

17
Q

What type of MG brings on fasciculations with mestinon treatment?

A

Anti-MUSK

18
Q

Tay Sachs disease is a deficiency in what enzyme?

A

Hexosaminidase A

19
Q

What genes are associated with hypoK PP?

A

SCN4A

CACNA1S

20
Q

What genes associated with hyperK PP?

A

CACNA1S

KCNJ2 (AT syndrome)

21
Q

Myotonia congenital gene?

A

CLCN1

22
Q

Thyrotoxic PP gene?

A

KCNE3 Kchannel

23
Q

What chemo drug can exacerbate CMT?

A

Vincristine

24
Q

What abx can increase weakness in MG?

A

Telithromycin

25
Q

Fabry disease gene?

A

Alpha galactosidase

Increase ceramide trihexodase

26
Q

What antibody most associated with DADS?

A

Anti-MAG

27
Q

How do you treat transient neonatal MG?

A

3 weeks mestinon

28
Q

What mutations nemaline myopathy?

A

Alpha actin-1
nebulin
Beta tropomyosin
Troponin T1

29
Q

What cardiac complication common with LGMD FKRP?

A

Dilated cardiomyopathy

30
Q

What are symptoms of acute intermittent porphyria?

A 
Severe abdominal pain
Ascending motor neuropathy
Areflexia
No rash
Psychiatric symptoms
Provoked by phenobarb and estrogens
31
Q

What medication can caused combined myopathy and neuropathy in renal insufficiency?

A

Colchicine

32
Q

What is Ross syndrome?

A

Autonomic disorder
Asymmetric face sweating
Areflexia

33
Q

What myopathies are associated with Titin gene mutation?

A

Udd distal myopathy (ant. Compartment weakness)

LGMD titin related

34
Q

What myopathies assoc. with dysferlin gene mutation?

A

Myoshi distal myopathy (post. Compartment weakness)

LGMD dysferlin related

35
Q

What do target fibers signify on muscle biopsy?

A

Reinnervation

36
Q

What happens to lactate and ammonia levels in normal, glycolytic myopathy, myoadenylate deaminase, CPT deficiency in forearm exercise test?

A

Normal- double lactate and ammonia
Glycolytic myopathy- lactate same, double ammonia
MADD- double lactate, ammonia same
CPT deficiency- double lactate, 20x ammonia

37
Q

What labs distinguish PFK deficiency?

A

Reticulocytosis, increase bilirubin, increase Uric acid

38
Q

What antibodies are associated with stiff person syndrome?

A

Anti-GAD

Anti-amphiphysin (cancer)

SAE (1 decks)

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