Vall d'Hebron today launched #MoutePerLaDistonia campaign, which aims to raise public awareness about the existence of dystonia, a minority neurological disease that can affect children, adolescents and young adults, and raise funds for research in this fieldDystonia is caused by an alteration in the central nervous system and causes involuntary muscular contractions and abnormal postures. "So daily activities such as talking, eating, walking, drawing or drinking are very difficult for those patients who suffer dystonia," explains Dr. Belén Pérez-Dueñas, principal investigator of the Pediatric Neurology group of the Vall d'Hebron Research Institute (VHIR) and doctor of the Pediatric Neurology section of Vall d'Hebron. "This affects the self-esteem of children and can lead to social isolation and low school performance. That is why it is so important to raise awareness among citizens about the limitations of dystonia and to advance their diagnosis and treatment. "The video of #MoutePerLaDistonia campaign is starring Jordi Roca, the chef responsible for the desserts of El Celler de Can Roca, whose dystonia was diagnosed as an adult. According to Jordi Roca, one of the main problems of this minority illness, which affects one person in ten thousand, is that it is very difficult to diagnose because their symptoms are usually confused with other pathologies. "I think it's important for health professionals to know the dystonia and become familiar with the disease to speed up the diagnosis, those affected suffer a long time until they can name their illness," explains Jordi Roca in one of the videos of #MoutePerLaDistonia.Dystonia is a very heterogeneous disease with a difficult diagnosis and treatment. In almost half of the children who suffer it, the causes that generate it are unknown. In addition, the available treatments are insufficient to improve the symptoms and the quality of life. "Massive DNA sequencing techniques allow us to identify the genetic causes of this minority illness, understand the mechanisms that produce it and make a personalized treatment," explains Dr. Pérez-Dueñas, who leads the research project at the Vall d'Hebron Research Institute, whose #MoutePerLaDistonia campaign will boost. To carry it out, euros 165,000 is required, of which Vall d'Hebron has already raised euros 75,000 thanks to the donation of ALUDME (Asociación de Lucha contra la Dystonia Mioclónica). "The #MoutePerlaDistonia campaign aims to raise euros 90,000 for myoclonical dystonia research in Vall d'Hebron," explains Alejandra Manau, Patronage Head of Vall d'Hebron: "Significant progress has already been made and now we can not stop. In addition, the invaluable collaboration of Jordi Roca and the team of El Celler de Can Roca in the campaign of dissemination, allows us to give visibility to this minority illness unknown to most people but that can be very limiting and frustrating for those who suffer it". A total of 60 patients with myoclonic dystonia treated since 2017Myoclonic dystonia is one of the most frequent genetic distonies in childhood. Since the year 2017, the Pediatric Neurology group of the Vall d'Hebron Research Institute (VHIR) is working on a translational research project aimed at characterizing clinically and genetically patients with myoclonic dystonia of the State. So far, the Pediatric Neurology section of Vall d'Hebron has been able to detect 60 patients with myoclonic dystonia, 48 of whom exhibited mutations in the epilepsy-sarcomoglyphic protein, and to provide them with an improvement in their treatment. The #MoutePerLaDistonia campaign will allow the team of the VHIR Pediatric Neurology group, in collaboration with other neuroscience research groups, to analyze the function of the epithelial-sarcoglican protein in the neural tissue as the main responsible for the myoclonic dystonia, in order to know the mechanisms that generate the disease and identify new therapeutic targets.