Duschenne Muscular Dystrophy Flashcards

1
Q

What is Duschennes

A

X linked Recessive mutation of Dystrophin gene

Affects only boys

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2
Q

What is the pathology of Duschennes

A

Muscle replaced by adipose tissue

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3
Q

What are the presentations of Duschennes

A

Gower’s Sign (Cant get up from laying)
Scoliosis

Scoliosis

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4
Q

How is Duschennes Investigated

A

Prenatal and DNA tests

DNA genetic test

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5
Q

How is Duschenne managed

A

Supportive therapy

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6
Q

What is gower’s sign

A

cant get up from laying down

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