NMD

Question 1

What is the role of rapsyn at the NMJ?

Answer 1

Clusters AchR to the post synaptic region

Question 2

What type of channels are antibodies in LEMS against?

Answer 2

Voltage gated P/Q calcium channels, presynaptic

Question 3

What percent of LEMS patients have cancer?

Answer 3

50%

Question 4

What happens to jitter blocking in LEMS

Answer 4

Decrease as firing rate increases

Question 5

What are features of IgM monoclonal protein neuropathy?

Answer 5

Old male
Distal sensory polyneuropathy
Ataxia

Question 6

What percentage of IgM monoclonal protein has anti-MAG?

Answer 6

2/3

Question 7

Fluoxetine is used for what kind of CMS?

Answer 7

Slow channel CMS

Question 8

Vacuoles containing PAS material show what?

Answer 8

Glycogen accumulation

Question 9

What are some features of debrancher enzyme deficiency?

Answer 9

Adult
Distal weakness
Neuropathy
Cardiac and liver involvement

Question 10

What gene is associated with MNGIE

Answer 10

Thymidine kinase gene

Question 11

Which root level is most affected in neurogenic TOS?

Answer 11

T1 > C8

Question 12

What gene is associated with hereditary brachial neuritis?

Answer 12

SEPT-9

Question 13

How does 3,4-DAP improve myasthenic symptoms

Answer 13

Blocks voltage-gated K channels, prolonging nerve terminal depolarization

Question 14

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

Answer 14

IgM

Question 15

What is treatment of choice of anti-MAG neuropathy?

Answer 15

Rituximab

Question 16

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

Answer 16

Lymphoma
Sarcoidosis
HIV
Lyme disease

Question 17

What type of MG brings on fasciculations with mestinon treatment?

Answer 17

Anti-MUSK

Question 18

Tay Sachs disease is a deficiency in what enzyme?

Answer 18

Hexosaminidase A

Question 19

What genes are associated with hypoK PP?

Answer 19

SCN4A

CACNA1S

Question 20

What genes associated with hyperK PP?

Answer 20

CACNA1S

KCNJ2 (AT syndrome)

Question 21

Myotonia congenital gene?

Answer 21

CLCN1

Question 22

Thyrotoxic PP gene?

Answer 22

KCNE3 Kchannel

Question 23

What chemo drug can exacerbate CMT?

Answer 23

Vincristine

Question 24

What abx can increase weakness in MG?

Answer 24

Telithromycin

Question 25

Fabry disease gene?

Answer 25

Alpha galactosidase | Increase ceramide trihexodase

Question 26

What antibody most associated with DADS?

Answer 26

Anti-MAG

Question 27

How do you treat transient neonatal MG?

Answer 27

3 weeks mestinon

Question 28

What mutations nemaline myopathy?

Answer 28

Alpha actin-1 nebulin Beta tropomyosin Troponin T1

Question 29

What cardiac complication common with LGMD FKRP?

Answer 29

Dilated cardiomyopathy

Question 30

What are symptoms of acute intermittent porphyria?

Answer 30

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

Question 31

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

Answer 31

Colchicine

Question 32

What is Ross syndrome?

Answer 32

Autonomic disorder Asymmetric face sweating Areflexia

Question 33

What myopathies are associated with Titin gene mutation?

Answer 33

Udd distal myopathy (ant. Compartment weakness) | LGMD titin related

Question 34

What myopathies assoc. with dysferlin gene mutation?

Answer 34

Myoshi distal myopathy (post. Compartment weakness) | LGMD dysferlin related

Question 35

What do target fibers signify on muscle biopsy?

Answer 35

Reinnervation

Question 36

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

Answer 36

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

Question 37

What labs distinguish PFK deficiency?

Answer 37

Reticulocytosis, increase bilirubin, increase Uric acid

Question 38

What antibodies are associated with stiff person syndrome?

Answer 38

Anti-GAD | Anti-amphiphysin (cancer)