Rare Disease Focus: Neurology/Nervous System Diseases +++++

FEATURED ARTICLES Neuroblastoma: Overview, Curie Scores, and Treatment Options https://checkrare.com/neuroblastoma-overview-curie-scores-and-treatment-options/ Greg Yanik, MD, Clinical Professor at University of Michigan’s C.S. Mott Children’s Hospital, provides an overview of this rare childhood cancer, goals of therapy, using the Curie score, and immotherapy treatments. Neuroblastoma: Evan Foundation https://checkrare.com/neuroblastoma-evan-foundation/ Gavin Lindberg details his family’s experience with neuroblastoma, provides advice to families, and discusses the EVAN Foundation. Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease https://checkrare.com/watch-the-daybue-trofinetide-in-practice-video-series-to-hear-expert-insights/ Rett syndrome thought leaders discuss how DAYBUE® (trofinetide), the first and only FDA-approved treatment for Rett syndrome in adults and pediatric patients 2 years of age and older, plays a role in their patients’ treatment plans, while shedding light on their personal experiences with DAYBUE in their practices. Restless Legs Syndrome Treatment and Guidelines Update https://checkrare.com/restless-legs-syndrome-treatment-and-guidelines-update/ Mark J. Buchfuhrer, MD, discusses clinical practice guidelines update suggesting against the standard use of dopamine agonists for the treatment of restless legs syndrome (RLS). Alpha-Mannosidosis: Disease Overview, Signs and Symptoms, Emerging Therapies https://checkrare.com/alpha-mannosidosis-podcast-series/ Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Noticia del Editor: entre los días doce (12) y quince (15) este blog se editará erráticamente debido a pausas en los contenidos, rogamos sepan disculpar las molestias que pudiera ocasionar a lectores, seguidores, y buscadores... Muchas gracias por la comprensión... Anmerkung des Herausgebers: Zwischen dem zwölften (12.) und fünfzehnten (15.) wird dieser Blog aufgrund von Inhaltspausen unregelmäßig bearbeitet. Wir entschuldigen uns für etwaige Unannehmlichkeiten, die dadurch für Leser, Follower und Suchmaschinen entstehen können... Vielen Dank für Ihr Verständnis... Editor's Notice: Between the twelfth (12) and fifteenth (15) this blog will be edited erratically due to pauses in content, we apologize for any inconvenience this may cause to readers, followers, and search engines... Thank you very much for your understanding... Avis de l'éditeur : Entre le douzième (12) et le quinzième (15), ce blog sera édité de manière erratique en raison de pauses dans le contenu, nous nous excusons pour tout inconvénient que cela pourrait causer aux lecteurs, aux abonnés et aux moteurs de recherche... Merci beaucoup pour votre compréhension... Примечание редактора: с двенадцатого (12) по пятнадцатое (15) число этот блог будет редактироваться нерегулярно из-за пауз в контенте. Приносим извинения за возможные неудобства для читателей, подписчиков и поисковых систем... Большое спасибо за понимание...