Duchenne Muscular Dystrophy Flashcards

1
Q

What is muscular dystrophy ?

A
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2
Q

What is the most common type of muscular dystrophy ?

A

Duchenne muscular dystrophy

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3
Q

What is Duchenne Muscular Dystrophy ?

A
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4
Q

When does Duchenne muscular dystrophy become fatal?

A

It causes great disability and eventually proves fatal by the age of 30 years.

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5
Q

What is the function of dystrophin protein ?

A

Anchors the actin with the sarcollema

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6
Q

Duchenne muscular dystrophy is an x-linked recessive disorder; why does this condition only affect males ?

A
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7
Q

At what age does symptoms of Duchenne muscular dystrophy usually appear?

A

before the age of 6

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8
Q

What is the MAJOR sign of Duchenne muscular dystrophy ?

A
  • GOWERS SIGN

Using hands to push on legs to stand.

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9
Q

What are some signs of Duchenne Muscular Dystrophy ?

A
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10
Q

How to diagnose duchenne muscular dystrophy ?

A

Serum creatine kinase test is usually the first diagnostic test carried out in suspected DMD.

CK stands for creatine kinase, an enzyme that leaks out of damaged muscle. When elevated CK levels are found in a blood sample, it usually means muscle is being disintegrated by some abnormal process, such as a muscular dystrophy or inflammation.

THEN

DMD is confirmed by genetic analysis, muscle biopsy and clinical observation of muscle strength

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