Neuro - muscular dystrophies

Question 1

what 2 are x-linked

Answer 1

duchennes and becker

Question 2

what genes are often affected?

Answer 2

dystrophin protein coding gene

Question 3

what muscles are particularly affected?

Answer 3

pelvic girdle

Question 4

DMD - age of onset

Answer 4

2-3 years

Question 5

beckers age of onset

Answer 5

15yrs+

Question 6

DMD - what age are those often unable to walk?

Answer 6

around 12

Question 7

what blood tests aid diagnosis?

Answer 7

creatinine kinase

Question 8

DMD life expectancy

Answer 8

30 years

Question 9

what often happens to leg muscles in DMD?

Answer 9

pseudohypertrophy

replace muscle cells with connective and fat tissue

Question 10

DMD - what sign is bilateral?

Answer 10

trendelenburgs

Question 11

DMD - manouevre positive?

Answer 11

gower

Question 12

gower manouevre

Answer 12

to stand up patient supports himself using his thighs and hands to essential walk up body

Question 13

common cause of death DMD

Answer 13

dilated cardiomyopathy
cardiac arrhythmias
resp insufficiency

Question 14

DMD or beckers have slower progression?

Answer 14

becker

Question 15

3 diagnostic tests

Answer 15

creatinine kinase
genetic analysis - dystrophin gene
muscle biopsy

Question 16

differential diagnosis

Answer 16

polymyositis
SMA
myotonic syndromes

Question 17

medical therapy

Answer 17

glucocorticoids
physio, orthopedic devices
ventilation
psych support