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VIDEO: What does the diagnostic journey of AADC deficiency look like?

Timothy John Feyma, MD, describes what the typical journey to diagnosis looks like for most patients and their families

Feyma: The typical patient journey with AADC deficiency would typically involve a journey and the parents getting lots of testing done that was unrevealing. I think if you hear a story about oculogyric crisis you should be thinking AADC deficiency but these kids, because it’s not always clear and there is some lack of awareness about the condition, I think many of these kids will have gone through multiple tests and that can include MRIs, one or two, EEGs, one or two. There could be medication trials because there are times where even if the EEG looks normal—that’s an electroencephalogram to look for seizures—many doctors oftentimes will think that there may be seizures ongoing anyway since these kids may go through multiple medication trials as well.

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