This podcast series aims to give you some of the information you need. We’ve asked the experts what essential advice they have about AADC deficiency and what you might expect as you go on this journey with your loved one. Find out more about symptoms, diagnosis, and available support by listening to the podcasts.
The Rare Talks: AADC podcast series is funded and produced by PTC Therapeutics Ltd. The content of the podcasts is based on the speakers’ expert opinions and professional experience. Some content discussed in the podcasts may be specific to the country the speaker practices in and may vary internationally. This podcast series is intended for a healthcare professional audience only.
Multimodal rehabilitation for children with AADC deficiency
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.
28 Feb 2023
Differential diagnosis: AADC deficiency and cerebral palsy
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.
26 Sept 2022
Differential diagnosis: AADC deficiency and epilepsy
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.
22 Jun 2022
Achieving a definitive diagnosis of 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.
16 Feb 2022
Recognising the early signs and symptoms of AADC deficiency
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.
14 Dec 2021
What is AADC deficiency? From suspicion to diagnosis
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