Genetics

Question 1

lung cancer met

Answer 1

Bone = osteolytic

Nerves - sensorimotor neuronopathy (CD8 attack on dorsal root ganglia, CRMP5); Lambert Eaton Myasthenic Syndrome

Question 2

CMT1 - type of neuropathy

Answer 2

most common charcot marie tooth variant - peripheral **demyelinating neuropathy

Question 3

CMTX, GJB1 gene

Answer 3

X linked form of CMT

Question 4

CMT2 - what part of nerve?

Answer 4

axonal injury

Question 5

POEMS syndrome

Answer 5

polyneuropathy, oragnomegaly, endocrinopathy, monoclonal gammopathy, skin changes

Question 6

PMP22 deletion

Answer 6

hereditary neuropathy with pressure palsy (i.e. carpal tunnel)

Question 7

PGL-1 antibodies

Answer 7

mycobacterium leprae causing lepromatous leprosy

Question 8

type of neuropathy developed in lepromatous leprosy

Answer 8

symmetric polyneuropathy

Question 9

b/l facial nerve palsy and polyradiculopathy - what bug, and disease?

Answer 9

lyme disease

Question 10

nodules of granulomatous inflammation that leads to localized nerve injury

Answer 10

tuberculoid leprsy

Question 11

CSF protein leevated, no pleocytosis wtih inflammation of nerve roots and peripheral nerves. name the disease

Answer 11

Guillane barre syndrome (acute inflammatory demyelinating polyneuropathy)

Question 12

these precede what?

by vaccination or viral (CMV, EBV), bacterial (camp, myco)

Answer 12

Guillane barre syndrome (acute inflammatory demyelinating polyneuropathy)

Question 13

onion bulb histo with IgG and IgM

Answer 13

chronic inflammatory demyelinating polyradiculopathy

Question 14

AChR autoantibodies in myasthenia gravis do waht to ACh internalization?

Answer 14

accelerate it.

Question 15

thymoma or thymus association

Answer 15

MG

Question 16

what has increased muscle response with stimulation?

Answer 16

lambert eaton myasthenic syndrome

Question 17

lilac discoloration around eyes cuased by antiM2 antiodies

Answer 17

dermatomysositis

Question 18

grotton lesions are

Answer 18

scaling erythematous lesions over kuckles elbows, knees in dermatomyositis

Question 19

antibody to cN1A

Answer 19

inclusion body myositis

amyloid, rimmed vacuoles

Question 20

CTG triplet repeat of DMPK, a dystrophy present at birth

Answer 20

myotonic dystrophy

Question 21

humeroperoneal weakness + cardiomyopathy + early achilles/spine/elbow contracture

Answer 21

emergy dreifuss Muscular dystrophy

Question 22

DUX4 overexpression that results in dystrophy with weakness of facial mm and muscles of the shoulder girdle

Answer 22

fascioscapulohumeral dystrophy

Question 23

sarcoglycan cmoplex mutation (ECM dysfunction) dystrophy with proximal mm gorup weakness

Answer 23

limb girdle muscular dystrophy

Question 24

chronic progrssive esxternal opthalmoplegia (elevated CK, rhabdomyolysis, wekaness)

Answer 24

mitochondrial myopathy

Question 25

KCNJ2 mutation
SCN4A mutation
CACNA1S mutation
CLC1 mutation

Answer 25

KCNJ2 mutation - K-channel myopathy (Andersen twail syndrome)
SCN4A mutation - Na channel (myotonia to periodic apralysis
CACNA1S mutation - Ca channel (HYPOkalmeic paralysis)
CLC1 mutation - Cl channel (myotonic)

Question 26

t(x;18); SS18-SSX

Answer 26

Synovial sarcoma