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Question
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Which of the following is false about DMD?
Explanation
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Genetic testing can be negative in rare situations where muscle IHC analysis can be informative<br>CK elevation is present pre-symptomatically and at birth allowing it to be a potential marker for newborn screening<br>Sleep disorder breathing and nocturnal hypoventilation can be an early manifestation of respiratory involvement<br>Corticosteroids slow the progression of disease and should be initiated before motoric decline typically between ages 3-5 but exact age has not been delineated.
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Reference
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Continuum : Muscle and NM junction Disorders(December 2022, Volume 28,no 6)Dystrophinopathies; Page no 1683-1692
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Option 1
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Is Correct (Option 1):
Genetic testing can be negative
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Option 2
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Is Correct (Option 2):
CK elevation can be present at birth
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Option 3
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Is Correct (Option 3):
Nocturnal hypoventilation can be a late presentation.
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Option 4
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Is Correct (Option 4):
Corticosteroids need to be started before motoric decline
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