DMD Flashcards
1
Q
Def
A
X linked recessive
Dystrophin
Start 3-5 y.o
1st affected muscles (pelvis,thighs and shoulders)
2
Q
CP:
A
Toddlers: pseudohypertrophy
Preschoolers: trouble getting up from the floor or climbing
Schoolers: waddling gate
Wheel chair at 7-12 y.o
3
Q
Complications
A
Cardiomyopathy and respiratory muscles affection (serious)
Dilated cardiomyopathy: common cause of death
4
Q
Dx
A
Enzyme tests
Genetic test
EMG
Muscle biopsy
5
Q
Tx
A
Glucocorticoids (prednisone and deflazacort).
Assistive devices: For stretching exercises and mobility aids (wheelchair).