Unit 22

Question 1

MD

Answer 1

sk m wasting/degen. progressive

Question 2

what are 3 things cause MD

Answer 2

atrophy
necrosis of m. fiber
pseudohypertrophy

Question 3

pseudohypertrophy

Answer 3

m tries to regen but CT and adipose is deposited instead of m.

Question 4

which MD is most common

Answer 4

duchenne md

Question 5

prevelance of duchenne md

Answer 5

1 in 3500 live male births

Question 6

Et MD

Answer 6

monogenic, rescessive, x linked

Question 7

how does MD pass

Answer 7

mother to son

Question 8

why does md pass mom to son

Answer 8

mom has 2 x chrs, and if one is def and passes that one to son, since son only has 1 x, this is what mnfts

Question 9

where is the def gene located in MD

Answer 9

short arm of x chr

Question 10

how do we tell apart types of Md 5

Answer 10

m group
age of onset
genetics
mode of inheritance
progression/rate of disase

Question 11

what does the def gene code for

Answer 11

dystrophin, a memb protein

Question 12

where is dystrophin located

Answer 12

inner sarcolema of m cell

Question 13

fx of dystrophin

Answer 13

attatches contractile filaments to points on the cell

Question 14

where does dystrophin attach filaments to

Answer 14

eachother
sarcolema
ground matrix

Question 15

when there is poor contractile protein attachment what happens to m fibers (step 1 patho)

Answer 15

necrosis with use

Question 16

what happens when m fibers being to necros (step 2 patho)

Answer 16

attempt to regen and repair

Question 17

what does attempted regen and repair of m cells cause (step 3 patho)

Answer 17

more necrosis

Question 18

what does necrosis mean for m memb perm

Answer 18

change in permeability

Question 19

what happens with the change in perm that occurs with def dystrophin

Answer 19

allows influx of Ca

Question 20

what E is released when ca influxes into cells

Answer 20

enzymes (CK

Question 21

what are filaments doing to themselves with contraction

Answer 21

injury

Question 22

why does fibrofatty ct replace M

Answer 22

body is trying to restrict, limit and adapt to changes rt cell necrosis by attempting to inc m mass. body cant regen m so psuedohypertrophy

Question 23

when does injury set in

Answer 23

with m use

Question 24

what age do we normally see mnfts? why

Answer 24

2-3yo because at this age toddlers begin to utilize more m

Question 25

what is the main mnfts of md

Answer 25

progressive m weakness or change in m action

Question 26

what types of m does md affect

Answer 26

all, esp resp and cardaic

Question 27

what does progession of md to to resp and cardiac fx

Answer 27

changes in breathing, CO, cardiomyopathy

Question 28

why is there no contraction or rleaxation by m tissue in progressed md

Answer 28

psuedohypertrophic m cant contract/relax

Question 29

what is important when begining dx for md

Answer 29

seperating this out from a n. issue

Question 30

what do we look at for dx of md

Answer 30

voluntary movement
serum CK
biopsy

Question 31

what do we analyze with vol movement

Answer 31

how much movement can they do alone

Question 32

what do we keep in mind when looking at serum CK levels

Answer 32

levels inc with age

Question 33

what confirms dx for md

Answer 33

biopsy

Question 34

what do we look for in biopsy for md

Answer 34

defecttive dystrophin on sarcolemma
CT, adipose, Ca deposits
necrosis

Question 35

tx

Answer 35

no cure
supportive and symptomatic
comfort

Question 36

what is important to remember about the damage in md

Answer 36

irreversible

Question 37

what is the most life threatening aspect in md

Answer 37

breathing

Question 38

what type of exercises can we do with md pts? why is this problematic

Answer 38

breathing.

inc injury occurs with inc m use, but if we dont use the m at all -> total atrophy

Question 39

what primary prevention measures can we do for md

Answer 39

carrier status assesment on mom prior to conception for def x chr
prenatal testing at 12 wks gest