DMD Flashcards

1
Q

Def

A

X linked recessive
Dystrophin
Start 3-5 y.o
1st affected muscles (pelvis,thighs and shoulders)

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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

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3
Q

Complications

A

Cardiomyopathy and respiratory muscles affection (serious)

Dilated cardiomyopathy: common cause of death

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4
Q

Dx

A

Enzyme tests
Genetic test
EMG
Muscle biopsy

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5
Q

Tx

A

Glucocorticoids (prednisone and deflazacort).

Assistive devices: For stretching exercises and mobility aids (wheelchair).

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