Peripheral nn and skeletal mm Flashcards

Question

what is an associated complication of MG

Answer 1

thymic abnormalities 30%- thymic hyperplasia 10%- thymoma

Answer 2

clusters or groups of atrophic fibers seen in neurogenic disease perifasicular atrophy in dermatomyositis type II fiber atrophy with sparing of type I with prolonged corticosteroid therapy

Answer 3

seen when only part of myofiber undergoes necrosis | degeneration is associated with release of cytoplasmic enzymes into blood such as creatine kinase

Answer 4

physiologic adaptation to exercise or in association with certain chronic myopathic conditons

Answer 5

in form of vacuoles, aggregates of proteins or clustered organelles are characteristic of several primary forms of myopathy

Answer 6

polymyositis dermatomyositis inclusion body myositis SLE, systemic sclerosis, and certain infections can cause myositis

Answer 7

lymphocytes

Answer 8

red spots on hands seen in dermatomyositis

Answer 9

proximal mm weakness and skin changes | damage to small blood vessels

Answer 10

directed against helicase implicated in nucleosome remodeling strong assocaition with prominent Gottron papules and heliotrope rash

Answer 11

directed against histidyl t-RNA synthetase associated with interstitial lung disease, nonerosive arthritis, and skin rash called mechanics hands poor prognosis

Answer 12

directed against several transcription regulators | associated with pareneoplastic and juvenile dermatomyositis

Answer 13

dermatomyocytis until proven otherwise

Answer 14

mm weakness slow in onset, symmetrical, proximal mm first, accompanied by myalgias standing up from chair or climbing steps difficult elevation of serum creatine kinase rashes 1/3 have dysphagias 10% interstitial lung disease- usually leads to death cardiac involvement common, but rarely leads to cardiac failure

Answer 15

helical rash- lilac colored discoloration of upper eyelids with assocaited periorbital edema gottron papules- scaling erythematous eruption of dusky red patches over knuckles, elbows, and knees

Answer 16

adult-onset inflammatory myopathy which shares myalgais and weakness with dermatomyositis, but lacks cutaneous features

Answer 17

marks presence of macros which should not be seen in mm and indicative of necrosis seen in polymyositis

Answer 18

disease of late adulthood >50 most common inflammatory myopathy >65 slowly progressing mm weakness most severe in quads and distal UL

Answer 19

will see inclusions or nuclei in center of mm fiber which is not normal, usually all cell component of mm fiber around periphery

Answer 20

Corticosteroids 1st line immunosupressives inclusion body myositis responds poorly to steroids and immunosupression (maybe not an inflammatory disease)

Answer 21

statins chloroquine and hydroxychloroquine thrytoxic myopathy alcohol

Answer 22

1.5% of users unrelated to dose or type must check people after 2 weeks of initiation of drug

Answer 23

used as antimalarials and can be used in systemic autoimmune diseases

Answer 24

presents as acute or chronic proximal mm weakness w/associated hyperthyroid symptoms

Answer 25

binge drinking can produce acute toxic rhabdomyolysis, myoglobuinuria, and renal failure

Answer 26

AD RYR1 mutation floppy baby scoliosis, hip dislocation, foot deformities normal sacromeres disrupted with increases mito

Answer 27

floppy baby childhood weakness aggreagates of spindal shapred partcles (nemoline rods) in type 1 fibers gomori stain

Answer 28

severe congenital hypotonia-floppy baby - poor prognosis | childhood onset or adult onset can also occur

Answer 29

Duchenne and Becker both mutations of dystophin gene duchenne worse

Answer 30

both marked by chronic mm damage that outpaces capacity for repair

Answer 31

segemental myofiber degenreation and regeneration w/admixture of atrophic myofibers usually no inflammation with progression mm replaced with fat

Answer 32

duchenne stain for dystophin will show thats its completely absent, beckers, just deficient

Answer 33

normal at birth very early motor milestones mets, but walking dealyed weakness in pelvic girdle mm -> shoulder girdle -> pseudohypertrophy mean onset of wheel chair dependance 9.5 eventually have respiratory failure

Answer 34

serum creatine kinase markedly elevated in 1st decade of life then falls as mm mass is lost can be confirmed with genetics studies

Answer 35

AD multisystem disorder assocaited with skeletal mm weakness, cataracts, endocrinopathies, and cardiomyopathies can be congenital with manifestations in infancy

Answer 36

expansions of CTG triplet repeats on DMPK gene

Answer 37

produce one of two patterns of mm dysfnx: - symptomatic only with exercise or fasting producing mm cramping, pain, or rhabdomyolysis - slowly progressive mm damage w/o episodic manifestations

Answer 38

skeletal mm involvement can manifest as weakness, elevations in serum creatine kinase or rhabdomyolysis

Answer 39

markers of mito disease

Answer 40

mm Bx normal w/o special staining

Answer 41

ragged red fibers phonograph records rhomboid paracrystalline inclusions

Answer 42

schwannoma neurofibroma malignatn peripheral nerve sheath tumor (MPNST)

Answer 43

NF1 NF2 schwan-nomatosis

Answer 44

benign tumors that exhibit Schwann cell differentiation often arise directly from peripheral nn loss of NF2 gene whose product is merlin in ALL schwannomas

Answer 45

antoni A areas and antoni B areas verocay bodies carrot shavings

Answer 46

symptoms dt local compression | commonly occur at cerebellopotine angle -> compress CNVIII and commonly referred to as acoustic neuroma

Answer 47

``` benign n sheath tumors more heterogeneous in composition than schwannomas admixed with: perineurial like cells fibroblasts mast cells CD34+ spindle cells ```

Answer 48

often present as peduculated nodules that can be seen isolated if sporadic or multiple when associated with NF1

Answer 49

often present as large plaque like elevation of skin and typically assocaited with NF1

Answer 50

can be found in deep or superficial locations in association with nn roots or large nn and are uniformly NF1 associated

Answer 51

85% high grade about 50% in NF1 pts malignant transformation of plexiform neurofibroma divergent differentiation

Answer 52

MPNST tumor with divergent differentiation | can have glandular, cartilaginous, osseous, or rhadomyoblastic tissue