Consensus papers and best practice Information page by the NHS Evidence Burgunder, J.-M. (2013). Recent advances in the management of choreas. Therapeutic Advances in Neurological Disorders, 6(2), 117–127. doi:10.1177/1756285612471700 Treatment approach for HD Books “Huntington… et alors? Comprendre la maladie et vivre avec” Videos “What is Huntington’s Disease” is an educational video and testimonial from UCL … Continue reading “Useful links, training resources, evidence and publication – Chorea & Huntington’s disease”
European Huntington’s Association is the European umbrella organisation for HD patient organisations: European Huntington’s Association European Huntington’s Association includes national patient organisations from all over Europe which currently include the following: Members of the Europe Huntington’s Association listed per country
REGISTRY REGISTRY is a multi-centre, multi-national, European (with some associate partners wordlwide) observational study of Huntington’s disease sponsored by CHDI, a non-profit organisation that supports a variety of research projects seeking to find treatments for HD. The aims of REGISTRY are: Obtain natural history data on a wide spectrum of individuals affected by HD Relate … Continue reading “Registries – Chorea & Huntington’s disease”
According to the European Huntington’s Disease Network, ” Huntington’s Disease is a rare, hereditary , degenerative disorder of the brain that was first described by George Huntington”. Please find more information on the EHDN’s website.
The Chorea & Huntington’s Disease Disease Knowledge Page provides reference information about care of Chorea & huntington’s Disease. Information and knowledge that has been developed or endorsed by ERN-RND is found in blue boxes. Full definition of Huntington’s Disease Centres for Chorea & Huntington’s Disease and their contact details
EXPERT CENTRES for Rare Neurological Diseases You will find below the expert centres in rare neurological diseases across Europe that are part of the ERN-RND network. These RND expert centres have been approved by their respective national healthcare authorities and have been thoroughly assessed during the ERN application process.The network is currently composed of 64 … Continue reading “Expert Centres”
A European Reference Network (ERN) is a virtual network comprised of healthcare professionals spread around Europe. Their objective is to tackle complex or rare diseases and conditions that necessitate highly specialised treatment and a concentration of knowledge and resources. Indeed, often a disease is so rare that expert knowledge is not available in the patient’s … Continue reading “About us”
by clicking the link you accept YouTube’s privacy policy. BACKGROUND Establishment and operation of an ERN based patient registry are core activities of all ERNs and lie within the healthcare scope of the ERNs. As such ERN registries have two complementing functions. They are an important component of a digitalised European healthcare and they are … Continue reading “ERN-RND Registry”
In this edition of “Meet the members”, we interview Juan Darío Ortigoza-Escobar, a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations … Continue reading “Juan Darío Ortigoza-Escobar, Hospital Sant Joan de Déu, Barcelona, Spain”
We are looking forward to meeting you at this year’s EAN Congress: come and visit us at our booth N27 and don’t miss our Scientific Theatre on Dystonia and Huntington’s Disease on July 1st at 16:25 EEST (Neurohood Hall). Join also our (N)Euro-Café or take a picture at our photo booth “Shine Light on the … Continue reading “EAN 2024: Come and visit us!”
As Jornadas do Doente são sínteses info-gráficas que visualizam as necessidades dos doentes na gestão da sua doença rara. Uma vez que as Jornadas do Doente são desenvolvidas a partir da perspetiva do doente, permitem aos médicos responder eficazmente às necessidades dos doentes com doenças raras. Os Percursos do Doente têm em conta o facto … Continue reading “Percurso do doente – Paraplegia Espastica Hereditaria (PEH)”
Patient Journeys are a useful educational tool for those with the rare disease. In addition, it is an ideal tool for doctors who are not experts in the area, accident and emergency, general practitioners and other health care professionals. (Mary Kearney, patient advocate at the ERN) Patient Journeys are info-graphical overviews that visualize patients’ needs … Continue reading “ERN-RND Patient Journeys”
“Пътят на пациента” са информационни графики, които визуализират нуждите на пациентите при лечението на тяхното рядко заболяване. Тъй като материалите “Път на пациента” са разработени от гледна точка на пациента и неговите близки, те позволяват на лекарите ефективно да отговорят на нуждите на пациентите с редки болести. Инфографиките отчитат, че нуждите на пациентите могат да … Continue reading “Пътят на пациента – болест на Хънтингтън”
From September 29th to October 1st the annual meeting took place at the CRONA-Kliniken in Tübingen. We are happy that besides the online participants also many on-site participants were present. We would like to thank all participants again for the inspiring presentations, discussions and the valuable exchange. Astri Arnesen, ERN-RND ePAG representative and president of … Continue reading “ERN-RND ANNUAL MEETING 2022”
In this edition of “Meet the members”, we interview Nataliya Grigorova, Bulgarian Huntington Association, ERN-RND ePAGs group coordinator. She speaks about the idea that the most important step for patients and their care is to improve their current condition and to increase their quality of life. She also speaks about her wish to foster equal … Continue reading “Meet the members: Nataliya Grigorova”
Disease-SpecificNeurorehabilitationAdvanced TherapiesPaediatricClinical StudiesDeep Brain StimulationERN-RND webinars in collaboration with ERN EURO-NMD and EAN ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases – in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and … Continue reading “Webinars”
The ERN-RND is a European Reference Network established by the EU to support patients and families affected by rare neurological diseases (RND) which requires much specialised knowledge, treatment and resources. Some diseases are so rare that the necessary knowledge might not be available in the patient’s nearest health centre or country. The patient doesn’t travel … Continue reading “Welcome to ERN-RND”
Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI (2021). Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics. Dec;52(6):489-494. doi: 10.1055/s-0041-1724130. Epub 2021 Apr 14. PMID: 33853163. Afonso Ribeiro J, Simeoni S, De … Continue reading “2021 Publications acknowledging ERN-RND”
In this edition of “Meet the members”, we interview Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association. She will tell us more about her work within ERN-RND and her expectations for the network. 1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest? I … Continue reading “Meet the members: Astri Arnesen”
In this edition of “Meet the members”, we interview Juan Darío Ortigoza-Escobar, a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations … Continue reading “Meet the members: Juan Darío Ortigoza-Escobar”
Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs G G, Molnar M J (2020) Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability. Neurol Genet. 6(5):e515. doi: 10.1212/NXG.0000000000000515. Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson S … Continue reading “2020 Publications acknowledging ERN-RND”
Mary Kearney, Friedreich’s Ataxia Research Alliance Ireland (FARA), Patient Advocate Robert Rusina, Thomayer Teaching Hospital and Charles University in Prague, Czech Republic Nataliya Grigorova, Bulgarian Huntington Association, ERN-RND ePAGs group coordinator Johannes Levin, Department of Neurology, Ludwig-Maximilians-University Munich, Germany Bart van de Warrenburg, Radboud university medical center, Nijmegen, the Netherlands Astri Arnesen, President of the … Continue reading “Meet the members”
Borm C, Krismer F, Wenning G K, Seppi K, Poewe W, Pellecchia M T, Barone P, Johnsen E L, Østergaard K, Gurevich T, Djaldetti R, Sambati L, Cortelli P, Petrović I, Kostić VS, Brožová H, Růžička E, Marti MJ, Tolosa E, Canesi M, Post B, Nonnekes J, Bloem BR, on behalf of the European MSA … Continue reading “2018 publications acknowledging ERN-RND”
