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  #1  
Old 03-30-2013
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Question duchenne muscular dystrophy confirm by?

duchenne muscular dystophy diagnostic confirmation by...?(i have little confusion)

a) electromyography
b) muscle biopsy
c) nerve conduction studies
d) serum aldolase,CPK levels
e) PCR

this is based on a case in kaplan qbank...i just wanted to your opinions on it...

thank you
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  #2  
Old 03-30-2013
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E by PCR = genetic testing looking for the genetic mutation resulting in decreased Dystrophin
if it's positive u've got your diagnosis no need to do more tests
but if it's negative ... u will proceed to Muscle biobsy,but not simple biobsy showing myopathic changes ,u have to go one step further and do on it some sort of immunohistochemichal testing as i remember looking for the defect and Decreased dystrophin
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  #3  
Old 03-30-2013
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Quote:
Originally Posted by oraiby View Post
E by PCR = genetic testing looking for the genetic mutation resulting in decreased Dystrophin
if it's positive u've got your diagnosis no need to do more tests
but if it's negative ... u will proceed to Muscle biobsy,but not simple biobsy showing myopathic changes ,u have to go one step further and do on it some sort of immunohistochemichal testing as i remember looking for the defect and Decreased dystrophin
thanks for reply.....i thought simple muscle biopsy was the confirmative before during this question and before your explanation........now i understood it...
goodluck
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  #4  
Old 04-03-2013
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Default it's muscle biopsy

I just did a very similar question on uworld and it said the best test was muscle biopsy. At biopsy you stain for the dystrophin protein using immunohistochemistry.

I dont think there is any specific gene we can amplify and get diagnosis so PCR would not be correct.
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  #5  
Old 04-03-2013
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Quote:
Originally Posted by wertheworld11 View Post
I just did a very similar question on uworld and it said the best test was muscle biopsy. At biopsy you stain for the dystrophin protein using immunohistochemistry.

I dont think there is any specific gene we can amplify and get diagnosis so PCR would not be correct.
yeah, muscle biopsy with immunohistochemistry is specific indeed if provided in options (but alone muscle biopsy is present then it will be the answer if no PCR or muscle biopsy with immunohistochemistry provided in the options)...

PCR diagnosis by gene amplify(dystrophin gene ) is specific just like muscle biopsy with immunohisto chemistry........i dont think they both will be provided in the same question as option(we can get illusioned by option muscle biopsy----which is the wrong answer if not given along with immunohistochemistry).....

this is what i got information about this till now.....

hope it understands well.......if you have any other explanations too let's discuss here...

thank you
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  #6  
Old 04-03-2013
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B???
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  #7  
Old 04-03-2013
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Quote:
Originally Posted by bigBOSSguy View Post
B???
no, E is the right answer buddy(reasons are discussed above)......it's not mentioned in mtb's...check in kaplan paeds pg-240.....also a question in qbank too
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Old 06-01-2015
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Just saw a question in UWORLD, and both genetic testing and biopsy were choices, and the answer for best confirmatory test is: Genetic Testing (gold standard apparently too).
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Old 06-24-2015
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Best initial = genetics
Confirmed = muscle biopsy
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