The UK Rare Disease Framework
Principles of the UK Rare Diseases Framework “All 4 UK nations have signed up to the UK Rare Diseases Framework and have therefore agreed to collaborate to achieve the outcomes…
Alternating Hemiplegia of Childhood - UK
Registered UK Charity No: 1192701
Principles of the UK Rare Diseases Framework “All 4 UK nations have signed up to the UK Rare Diseases Framework and have therefore agreed to collaborate to achieve the outcomes…
Today is International Rare Disease Day 2021 Why don’t you enjoy today with a ‘Rare Treat’. Can you donate the cost of Coffee & Cake for all the AHC Rare…
International Rare Diseases Day Dear AHC families, researchers and supporters, Today, Sunday 28th February 2021, is International Rare Diseases Day Rare Diseases Day is where the international community come together…
An Overview of Alternating Hemiplegia of Childhood (AHC) by Sanjay Sisodiya Professor of Neurology University College London Queen Square Institute of Neurology and Medical Advisor of Alternating Hemiplegia of Childhood…
Sara Zagaglia, Dora Steel, S Krithika, Laura Hernandez-Hernandez, Helena Martins Custodio, Kathleen M Gorman, Aikaterini Vezyroglou, View ORCID Profile Rikke S Møller, Mary D King FRCPCH, Trine Bjørg Hammer, View ORCID Profile Robert Spaull, Walid Fazeli, Tobias Bartolomaeus, Diane Doummar, Boris Keren, Cyril Mignot, Nathalie Bednarek, J…
The highlights on this newsletter series looks at: Q & A session with Dr. Katerina Vezyroglou on the ‘AHC and ATP1A3 Natural History Study’ (YouTube Link) Highlighting to register to…
AHC UK Research Newsletter 18th January 2021
We would love to hear from you! The AHC and ATP1A3 Natural History Study Alternating Hemiplegia of Childhood (AHC) is an ultra-rare disease with an estimated one in a million occurrence. Patients suffer from a combination of disabling paroxysmal events (hemiplegic or dystonic attacks and, in some cases, epileptic seizures) and varying degrees of permanent neurologic features (ataxia, dystonia, neurocognitive delay, mental health problems). It is a disabling condition that impacts severely the quality of life of the affected individual and their families. About 75% of the patients have a mutation in the gene ATP1A3, in the others the cause of AHC is mostly unknown. Curative therapies are not as yet available and the medications used to alleviate symptoms like hemiplegia, dystonia, and seizures are helpful for some, but not all patients. As long-term follow-up studies are lacking, clinicians cannot provide families with an accurate prognosis. Driven by our inability to substantially help our growing cohort of afflicted patients, and with the support of AHCUK, the UK support group, we have set up the AHC and ATP1A3 natural history study led by Professor Helen Cross and Dr Katerina Vezyroglou at Great Ormond Street Hospital in London. The study aims to answer some of the unanswered questions about AHC, such as Why are different patients affected differently? Can MRI and EEG help us predict the severity of the disease? What causes AHC in patients without a ATP1A3 mutation? All patients (children and adults) with AHC or/and with a mutation in ATP1A3 are welcome to participate. If you have questions or are interested to find out more, please get in touch at k.vezyroglou@ucl.ac.uk While viewing the pdf attached…
Thank you to everyone who joined in this helpful Question & Answer session in November of last year with Dr. Katerina Vezyroglou on her research work. As promised, we have included the link to the recorded zoom session for those of you who were unable to attend the event. We hope you find this helpful and as in the session, Dr. Vezyrouglou is very happy to hear from anyone who would like to ask any more questions. All questions are welcome. As discussed in the zoom chat, this project also feeds into the OBSERV AHC natural history study involving many international centers.
The Autumn 2020 edition of the Rare Revolution Magazine was entirely dedicated to rare and complex epilepsies of which Alternating Hemiplegia of Childhood was highlighted. The article was written by…
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