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Flashcards in MSK path III Deck (52)
1

polymyositis

adult onset inflammatory myopathy that shares myalgia and weakness with dermatomyositis but lacks cutaneous features

2

mononuclear inflammatory cells in endomysial location

polymyositis

3

CD68

macrophages

4

inclusion body myositis

late adulthood >50 years old

5

most common inflammatory myopathy in adults >65 y.o

inclusion body myositis

6

presentation inclusion body myositis

slowly progressive muscle weakness that tends to be most severe in quads and distal Upper extremity muscles

7

trichrome stain
nuclei in center of muscle cells and myofibers have rimmed vacuoles

polymyositis

8

Main Tx for inflammatory myopathies

corticosteroids

9

steroid R disease of inflammatory myopathies
Tx?

azathioprine, MTX, IV Ig, cyclophosphamide, cyclosprine, rituximab

10

will Tx work for inclusion body myositis

responds poorly

11

most common complication statins

myopathy

12

thyrotoxic myopathy

acute or chronic proximal muscle weakness, precedes other Sx hyperthyroidism

13

Bindge drinking can cause what myopathies

rhabdomyolysis, myoglobinuria and renal failure

14

what type of atrophy does alcohol cause in muscle

type II atrophy

15

chromosome 19q13.1 assoc with what gene
inheritance

RYR1- autosomal dominant

16

clinical findings of mutation in RYR 1

floppy infant
scoliosis, hip dislocation, foot deformities,
malignant hyperthermia!!!

17

muscle cells show cytoplasmic cores with central zones of abnormal sarcomeres and decreased mitochondria thorughout

RYR1 mutation
"central core disease"

18

What is NEM

nemaline myopathy

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presentaiton NEM

weakness, hypotonia
floppy infant

20

histo NEM

spindle shaped particles in type I fibers
gomori stain is best

21

clinical findings centronuclear myopathy

floppy infant
poor prognosis in X linked form
weakness and hypotonia

22

histo centronuclear myopathy

nuclei in center of myofiber especially type I

23

mutation in centronuclear myopathy

XL- myotubularin gene MTM1
CNM2 gene

24

progressive muscle damage that manifests between childhood and adulthood

muscular dystrophies

25

most common muscular dystrophies have what inheritance and what is dysfucntional

X linked
mutation in dystrophin

26

syndromes from loss of function in dystrophin gene on X chromosome

duchenne and becker

27

when are duchenne and becker usually Dx

around a year because slow at walking

28

what does dystrophin do

linkts actin to syntrophins
raltionship between cell membranes and proteins

29

Bx in young boy mm show segmental myofiber degeneration and regeneration with atrophic myofibers
no inflammation
some fat infiltration

beckers or duchenne

30

absent normal sarcolemmal staining on immunohistochem

duchenne

31

reduced sarcolemmal staining on immunohistochem

becker

32

what is pseudohypertorphy

when because losing some muscle fibers the others try to compensate and grow big. look like have big muscles, but lots is fat

33

which muscular dystrophy still has some dystrophin

becker

34

sequelae of muscular dystrophy

joint contractures, scoliosis, worsening respiratory reserve, sleep hypoventilation

35

serum CK MM in dystrophy

elevated in first decade
then falls as disease progresses

36

what confirms muscular dystrophy

genetic studies

37

inheritance of myotonic dystrophy

auto dominant

38

myotonic dystrophy is associated with what other system disorders

skel mm weakness, cataracts, endocrinopathy and cardiomyopathy

39

what is myotonia

sustained involuntary contraction of muscles

40

what causes myotonic dystrophy

expansions CTG triplet repeats at 3' noncoding region of myotonic dystrophy protein kinase

41

what muscular dystrophy has mutations that encode nuclear lamina proteins

emery dreifuss muscular dystrophy

42

presentation of decrease in lipid or glycogen metabolism

msucle cramping and pain when exercise or fasting
or
slow progressive muscle damage without episodic manifestations

43

What is McArdles disease

cannot breakdown sugars

44

ragged red fibers

mitochondrial deficiency

45

phonogrpah record appearance of mitochonria

mitochondrial abnormality

46

myopathies from mitochondrial problems

elevated CK
rhabdomyolysis
weakness

47

what is spinal muscular atrophy

loss of motor neurons which leads to muscle weakness and atrophy

48

presentation spinal muscular atrophy

floppy infant

49

Sx of ion channel myopathy

elevated, depressed or normal serum K levels
"hyperkalmic, hypokalemic and normokalemic periodic paralysis"

50

malignant hyperthermia

hypermetabolic state: tachycardia, tachypnea, muscle spasms and hyperpyrexia

51

most common trigger for malignant hyperthermia

halogenated inhalaltional agents and succinylcholine

52

CD cells involved in polymyositis

CD8