Rare Talks: AADC

In this episode, Yuji Oka joins us for an illuminating discussion on how multimodal rehabilitation can help children living with AADC deficiency. Yuji shares how his innovative approach of addressing rehabilitation through the perception of child learning experiences can integrate with the broader multidisciplinary team to help improve patient outcomes.

In this episode, we’re joined by Professor Angela García-Cazorla to explore the overlapping symptoms between AADC deficiency and cerebral palsy. She discusses how similar presentations between cerebral palsy and AADC deficiency can lead to an incorrect diagnosis, and the consequences this can have for patients and their families. She will also highlight the importance of receiving a timely rare disease diagnosis and how to differentiate nervous system disorders from one another.

Professor Maša Malenica joins us to explore the overlapping symptoms between AADC deficiency and epilepsy. Hear about the importance of considering different diagnoses, especially from the rare disease spectrum, and learn when to consider an alternative diagnosis in patients who may have been diagnosed with epilepsy. Listen now to discover how to differentiate epilepsy from AADC deficiency. 

We’re joined by Dr Heiko Brennenstuhl to explore how a definitive diagnosis of AADC deficiency can be achieved. In this podcast, he discusses the signs and symptoms that could suggest a neurotransmitter-related disorder, and the key diagnostic tests needed to confirm a diagnosis. Listen in to hear Dr Brennenstuhl outline the guideline-recommended diagnostic tests, the importance of genetic testing in reaching a definitive diagnosis, and the possibility of dried blood spot tests for new-born screening.

This conversation with Professor Fatih Ezgü focusses on the early signs and symptoms that might be indicative of a neurotransmitter disorder like AADC deficiency. He shares his personal experiences and insights into accurately recognising the signs and symptoms of AADC deficiency, and the importance for an early and accurate diagnosis, not just for the patient, but also their family and caregivers.

Professor Roberta Battini joins us to discuss monoamine neurotransmitter disorders and AADC deficiency. In this podcast, she provides crucial advice to physicians on what symptoms might be suggestive of an AADC deficiency diagnosis and other more common conditions that may be similar to AADC deficiency. Finally, she discusses the key clinical tests required for a definitive diagnosis and the importance of performing biochemical marker tests before genetic tests when establishing a diagnosis.