14/04/2021 The ALUDME association donates €16,000 to the MoutePerLaDistonia campaign in Vall d’Hebron 14/04/2021 The proceeds will go to a project to study dystonia and establish new treatments to improve patient care. In 2019, Vall d'Hebron launched the https://distonia.vallhebron.com/?lang=ES #MoutePerLaDistonia campaign, with the aim of raising awareness of dystonia, a minority neurological disease that can affect children, adolescents and young adults, and raising funds to promote research in this area. Since then, the Association for the Fight Against Myoclonic Dystonia (ALUDME) has made donations worth euros16,000, which will be allocated to the project "Clinical and genetic characterization of patients with myoclonus dystonia in the Spanish population and study of biomarkers" by the research group in Pediatric Neurology at the Vall d'Hebron Research Institute (VHIR)."ALUDME is growing every day, it is very important for us that dystonia is increasingly known and collaborate with the Vall d'Hebron research", explained Marina Martín Garcia, president of the ALUDME Association, in a meeting in which Dr. Xavier Cañas, Director of Promotion of Clinical Research at VHIR, thanked the association for its drive in the campaign.The Pediatric Neurology laboratory, led by Dr. Belén Pérez, has been working since 2016 on a research project aimed at improving the diagnosis and treatment of children suffering from myoclonic dystonia and other genetic dystonia.The research group, together with ALUDME, cares for children and adolescents with dystonia from all over the Spanish State, achieving a genetic diagnosis in approximately 70% of cases. This has made it possible to improve treatment and offer genetic counseling to affected families.Currently, the Pediatric Neurology group at the VHIR has opened a new line of research, in collaboration with the Molecular Physiology of the Synapse group led by Dr. àlex Bayés at Hospital Sant Pau, with the aim of studying the molecular bases of myoclonic dystonia from the generation of an experimental mouse model."The results of these studies will make it possible to determine common molecular pathways between the different genetic dystonia and establish new therapeutic targets", explains Dr. Belén Pérez-Dueñas, specialist in the Pediatric Neurology section of Vall d'Hebron and principal investigator of the Pediatric Neurology group at the VHIR. Myoclonic dystoniaDystonia is a very heterogeneous disease that is difficult to diagnose and treat. It is a neurological disorder that causes involuntary muscle contractions that cause repetitive movements and abnormal postures. This limits things as basic as being able to speak, eat, drink, write, play sports, etc.In about half of the children who suffer it, the causes are unknown. Furthermore, the available treatments are insufficient to improve symptoms and quality of life. Twitter LinkedIn Facebook Whatsapp