VIDEO: What should HCPs look for to get to a differential diagnosis?
Thomas Opladen, MD, details how to differentiate AADC deficiency from other conditions
Opladen: I think first of all it’s important that they recognize the clinical symptoms as a pattern. And I haven’t mentioned that there are some maybe more typical symptoms, like, for example, the oculogyric crisis, which are a tonic upward gaze of both eyes. And I think as soon as the child neurologist is thinking or combining these clinical symptoms as a pattern, you should think about a neurotransmitter disorder and specifically AADC deficiency.