Quiz Form

Question Date: 08/01/2024

Question: Which of the following is false about DMD?

Options:

• Genetic testing can be negative
• CK elevation can be present at birth
• Nocturnal hypoventilation can be a late presentation.
• Corticosteroids need to be started before motoric decline

Correct Answer: Nocturnal hypoventilation can be a late presentation.

Explaination: 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.

Reference: Continuum : Muscle and NM junction Disorders(December 2022, Volume 28,no 6)Dystrophinopathies; Page no 1683-1692