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Meetings

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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Välkommen till en digital föreläsning med Ann Nordgren, professor och klinisk genetiker vid Göteborgs universitet och Helene Cederroth, grundare och ordförande i Willefonden!
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Ett av målen med det nationella barnhälsovårdsprogrammet är att tidigt identifiera och initiera åtgärder vid problem med barns hälsa och utveckling. Vilka avvikelser är viktiga för dig inom barnhälsovården att vara uppmärksam på? Varför kan det vara livsavgörande att remittera barnet vidare och inte avvakta?
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Vi välkomnar dig som arbetar inom barnhälsovården till ett av två identiska direktsända webinar; den 25 november eller den 1 december, båda tillfällena mellan 12:00 – 13:00. Klicka i vilket av datumen du vill deltaga på när du fyller i dina anmälningsuppgifter.
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