Genetics Flashcards
lung cancer met
Bone = osteolytic
Nerves - sensorimotor neuronopathy (CD8 attack on dorsal root ganglia, CRMP5); Lambert Eaton Myasthenic Syndrome
CMT1 - type of neuropathy
most common charcot marie tooth variant - peripheral **demyelinating neuropathy
CMTX, GJB1 gene
X linked form of CMT
CMT2 - what part of nerve?
axonal injury
POEMS syndrome
polyneuropathy, oragnomegaly, endocrinopathy, monoclonal gammopathy, skin changes
PMP22 deletion
hereditary neuropathy with pressure palsy (i.e. carpal tunnel)
PGL-1 antibodies
mycobacterium leprae causing lepromatous leprosy
type of neuropathy developed in lepromatous leprosy
symmetric polyneuropathy
b/l facial nerve palsy and polyradiculopathy - what bug, and disease?
lyme disease
nodules of granulomatous inflammation that leads to localized nerve injury
tuberculoid leprsy
CSF protein leevated, no pleocytosis wtih inflammation of nerve roots and peripheral nerves. name the disease
Guillane barre syndrome (acute inflammatory demyelinating polyneuropathy)
these precede what?
by vaccination or viral (CMV, EBV), bacterial (camp, myco)
Guillane barre syndrome (acute inflammatory demyelinating polyneuropathy)
onion bulb histo with IgG and IgM
chronic inflammatory demyelinating polyradiculopathy
AChR autoantibodies in myasthenia gravis do waht to ACh internalization?
accelerate it.
thymoma or thymus association
MG
what has increased muscle response with stimulation?
lambert eaton myasthenic syndrome
lilac discoloration around eyes cuased by antiM2 antiodies
dermatomysositis
grotton lesions are
scaling erythematous lesions over kuckles elbows, knees in dermatomyositis
antibody to cN1A
inclusion body myositis
amyloid, rimmed vacuoles
CTG triplet repeat of DMPK, a dystrophy present at birth
myotonic dystrophy
humeroperoneal weakness + cardiomyopathy + early achilles/spine/elbow contracture
emergy dreifuss Muscular dystrophy
DUX4 overexpression that results in dystrophy with weakness of facial mm and muscles of the shoulder girdle
fascioscapulohumeral dystrophy
sarcoglycan cmoplex mutation (ECM dysfunction) dystrophy with proximal mm gorup weakness
limb girdle muscular dystrophy
chronic progrssive esxternal opthalmoplegia (elevated CK, rhabdomyolysis, wekaness)
mitochondrial myopathy
KCNJ2 mutation
SCN4A mutation
CACNA1S mutation
CLC1 mutation
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)
t(x;18); SS18-SSX
Synovial sarcoma
