Today, Friday, is International Myotonic Dystrophy Awareness Day, a hereditary muscle disease that manifests itself in two main types: Myotonic Dystrophy type 1 (DM1) and Myotonic Dystrophy type 2 (DM2). Although both share some similarities in terms of symptoms and causes, they also have differences due to the genetic mutations responsible for each, which are reflected in the severity of the symptoms and the age of onset. DM1 tends to be more severe than DM2, which also manifests later in life.
DM1 is a rare genetic disease that is currently incurable, affecting approximately 1 in 8,000 people. It can appear at any time in life and its manifestations are variable, but usually include muscle weakness and atrophy, myotonia (inability to relax muscles), malignant cardiac arrhythmias, and cognitive deficits. Its severity is variable and appears progressively, so that there are affected people who lead almost normal lives, which makes its diagnosis difficult. The severity of DM1 is related to the gradual loss of locomotor and cognitive functions, and is potentially fatal when it negatively influences the cardiac or respiratory muscles.
"The objectives of the new National Thematic Network on DM1 are, first of all, to improve knowledge about this disease among the general public and in the health sector in particular, since, despite having a considerable incidence, DM1 is an underdiagnosed disease. There is pending work in this sense, since improving the quality of life of affected people starts with having an accurate diagnosis of their disease", explains Rubén Artero, professor of Genetics at the University of Valencia and main researcher of the INCLIVA-UV Translational Genomics Group, as well as coordinator of this Network.
"Secondly, the RED-DM aims to highlight the excellent work of its members. This work goes from basic science to clinical science and goes through a translational phase - which is the hallmark of this Network - which allows science to move from laboratories to society and to the patient’s bedside, that is, it translates into a treatment for DM1", completes the researcher.
Some of the most important groups participate in the Network in the study and development of treatments for DM1 at the national level, which, in turn, have a strong international projection due to the excellence of their research. In addition to the INCLIVA-UV Translational Genomics Group, the RED-DM integrates the groups led by Gisela Nogales Gadea (Germans Trias i Pujol Research Institute, IGTP); Virginia Arechavala Gomeza (Biocruces Bizkaia Health Research Institute); Javier Ramón Azcón (Institute for Bioengineering of Catalonia, IBEC); Ramón Eritja Casadellá (Institute of Advanced Chemistry of Catalonia, iQAC/CSIC); Nuria Muelas Gómez (La Fe Health Research Institute, IIS La Fe) from Valencia; and Adolfo López de Munain (Neurology
