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Information
Duchenne Muscular Dystrophy (DMD) is a severe and progressive neuromuscular disease caused by different underlying mutation types. Does the mutation type matter and if so, how should you identify it?

You are invited to join us at a highly interactive webinar about DMD and the Genetics – Meet the expert.

Speakers

Dr Christian Wentzel, PhD, Specialist in Neuropediatrics and Genetics at Uppsala University Hospital, Sweden
Prof Annemieke Aartsma-Rus, Leiden University Medical Center, the Netherlands

Time & date
Wednesday 26 May 2021
Time: 15.30–17.00 CEST

Why attend to this webinar/meeting
This interactive meeting will aim to enhance your understanding of the genetic diagnosis for patients with Duchenne muscular dystrophy by:

Reviewing the clinical presentation of Duchenne muscular dystrophy and highlighting disease features that are commonly missed out.
Describing DMD as a series of milestones in a disease continuum, the importance of early diagnosis and the impact of delaying milestones on disease progression.
Outlining the genetic basis of Duchenne muscular dystrophy and summarising the importance of obtaining amutation specific diagnosis.
Clarifying the appropriate interpretation of genetic test results.

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Information
Neurotransmitter disorders are a group of inherited neurometabolic diseases attributable to disturbances of neurotransmitter metabolism. Meeting patients with a variety of neurological symptoms like hypotonia, developmental delay and movement disorders, it could be challenging when to suspect the rare.

You are invited to join us at the webinar about Neurotransmitter disorders and AADC deficiency, where you will get the chance to learn more about these debilitating conditions.

Speakers‍

Dr Kalliopi Sofou, The Queen Silvia Children’s Hospital, Gothenburg, Sweden
Dr Sabine Grønborg, Rigshospitalet, Copenhagen, Denmark

Time & date
Wednesday 9 June 2021
Time: 15.30–17.15 CEST

Why attend to this webinar/meeting
This interactive meeting will aim to enhance your understanding of diagnosis and management of patients with neurotransmitter disorders by:

Outlining the genetic and metabolic basis of neurotransmitter disorders and AADC deficiency and summarising unmet needs in diagnosis.
Reviewing the clinical presentation of neurotransmitter disorders and AADC deficiency and highlighting disease features that are key in preventing a misdiagnosis.
Describing the diagnostic pathway for neurotransmitter disorders and AADC deficiency, including core diagnostic tests and new metabolic screening techniques.

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You are invited to join us at the upcoming webinar ”Differential diagnosis and search for etiology in epilepsy and paroxysmal movement disorders”, where you will get the chance to learn more about navigating within the diagnostic journey for patients with epilepsy and an unknown aetiology, different options of genetic investigations, clinical examples of finding the correct diagnosis and what this can mean to the patients and families.

Speakers:
Tommy Stödberg, M.D. PhD., Senior consultant in Child Neurology and Head of the Pediatric
Epilepsy Team at Karolinska University Hospital / Astrid Lindgrens Children´s Hospital, Sweden

Sarah Weckhuysen, Neurologist, Associate Professor, Lead of Epilepsy Genetics Research Group at VIB Centre of Molecular Neurology, University of Antwerp, Belgium

Wednesday November 8, at 16.00–17.00 CET

We look forward to you joining us!

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