Neuromuscular

Front 1

Walking on the inner edges of feet and tightly curled hair

Back 1

Giant axons neuropathy

Front 2

Genetics and physiology of GAN (giant axons neuropathy)

Back 2

AR and intermediate filaments

Front 3

Retinitis pigmentosa, cardiomyopathy, skin changes, anosmia, ataxia, cerebellum signs, large fiber sensorimotor neuropathy

Back 3

Refsum’s disease

Front 4

Refsum’s disease genetics and physiology

Back 4

AD peroxisomal disorder, accumulation of phytanic acid

Front 5

Kennedy’s disease

Back 5

X-linked spinobulbar muscular atrophy - CAG repeat, androgen R protein gene

Front 6

Myotonic dystrophy inheritance

Back 6

AD

Front 7

Genetic abnormality of proximal myotonic myopathy (DM2)

Back 7

Tetranucleotide repeat (CCTG) expansion in zinc finger 9 gene

Front 8

DM2 - proximal myotonic myopathy

Back 8

Cataracts, muscle pain, proximal weakness, insulin resistance infertility

Front 9

Weakness with hyper mobility

Back 9

Ullrich’s congenital MD (collagen type VI)

Front 10

Pseudo INO

Back 10

MG - 30 sec sustained upgaze leads to medial rectus wknss, then lateral rectus wknss - nystagmus

Front 11

Difference between AIDP/CIDP

Back 11

CIDP:wknss is proximal &distal, stocking glove sensory change

Front 12

Malignant hyperthermia due to mutation of __ R in skeletal m.

Back 12

Ryanodine - Ca++ release channel on SR - excess Ca++ rekeasr

Front 13

Fabrys dz

Back 13

Neuropathic pain, angiokeratomas, febrile episodes, renal failure

Front 14

Anti-GM1 Ab assoc w/ ___. Tx ?

Back 14

Multi focal motor neuropathy

IVIG

Front 15

Inability to control facial muscles, increased jaw jerk and gag reflex

Back 15

Pseudobulbar palsy

Front 16

Early onset hypotonia and wknss, gomori trichrome: red punctuate inclusions in skeletal m cytoplasm

Back 16

Nemaline myopathy

Front 17

Enzyme deficiency in McArdles dz

Back 17

Myophosphorylase

Front 18

Limb girdle wknss, cardiac conduction defect, early cardiac death in M, IQ normal

Back 18

Emery-Dreyfus muscular dystrophy

Front 19

Limb girdle wknss, cardiac conduction defect, early cardiac death in M, IQ normal

Back 19

Emery-Dreyfus muscular dystrophy

Front 20

Genetics of Emery-Dreyfus MD

Back 20

Xlinked- lack of emerin

AD form - Lamanin

Front 21

Limb girdle wknss, cardiac conduction defect, early cardiac death in M, IQ normal

Back 21

Emery-Dreyfus muscular dystrophy

Front 22

Genetics of Emery-Dreyfus MD

Back 22

Xlinked- lack of emerin

AD form - Lamanin

Front 23

What if the F wave?

Back 23

Late response generated by supramaximal nerve stimulation

Front 24

Hyperkalemic vs hypokalemic periodic paralysis

Back 24

Hyperkalemic - infancy

Front 25

Hyperkalemic vs hypokalemic periodic paralysis

Back 25

Hyperkalemic - infancy

Front 26

Most sensitive AChR antibody assay

Back 26

AChR binding ab

Front 27

Anti-striated muscle ab

Back 27

+ in MG w/ thymoma

Front 28

Mutation of transthyretin (TTR) gene - AD

Back 28

Familial Amyloid Polyneuropathy 1&2

Front 29

FAP 1 v. 2

Back 29

1 - earlier onset (3/4 decade)

2- later onset (4/5 decade)

Front 30

FAP W no autonomic features, with progressive polyneuropathy

Back 30

2

Front 31

FAP w/ autonomic features

Back 31

1

Front 32

FAP w/ cardiomyopathy, due to apoprotein A1 mutation

Back 32

3

Front 33

FAP w/ connective tissue and cornea problems. Mutation?

Back 33

4 - gelsolin

Front 34

Pyridostigmine MoA

Back 34

Achetylcholinesterase inhibitor - increase availability of ACh to improve neuromuscular transmission

Front 35

Pyridostigmine MoA

Back 35

Achetylcholinesterase inhibitor - increase availability of ACh to improve neuromuscular transmission

Front 36

Pyridostigmine SE

Back 36

twitching, hyperesthesia, diarrhea, abdominal pain, increased cholinergic activity (diaphoresis, incontinence, salivation)

Front 37

Hypersomnia, frontal hair loss, facial temporal wasting, problems with executive function

Back 37

Myotonic dystrophy

Front 38

Associated with a high risk of autism

Back 38

Tuberous sclerosis

Front 39

Side effect of lithium

Back 39

Acne

Front 40

Treatment for mania in pregnancy

Back 40

Haldol

Front 41

Associated with an early age of onset in AD

Back 41

PSEN1

Front 42

When do you see polyphasic potentials

Back 42

Months after injury just prior to return of normal facial function - represents reinnervation

Front 43

Myokymia

Back 43

Involuntary spontaneous quivering of a few muscle fibers or bundles within a muscle, insufficient to move the joint

Front 44

Myokymia

Back 44

Involuntary spontaneous quivering of a few muscle fibers or bundles within a muscle, insufficient to move the joint

Front 45

Common cause of myokymia

Back 45

Radiation therapy, demyelinating dz

Front 46

Fibrillation potentials

Back 46

Spontaneous depolarizations seen in any condition in which there can be a loss of normal inhibition - regular repeating pattern - each fibrillation is a depolarization of a single muscle fiber

Front 47

Fasciculation potentials

Back 47

Spontaneous potentials that represent activation of motor unit potentials at axon or neuron - slow, irregular

Front 48

End plate spikes

Back 48

Short, irregularly repeating