Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents. DM1 is the most common form of adult-onset muscular dystrophy, with an estimated prevalence of approximately 1-5 per 10,000 people. In Spain, the condition shows notable regional differences, making it especially important to understand its characteristics within the population.
The aim of this study is to support a research initiative designed to better characterise DM1. We are developing a comprehensive national registry, collecting patient-reported information, clinical data and omics data that will improve our understanding of the disease and help identify individuals who may be eligible for clinical trials.
Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.
There are no exclusion criteria for the registry
Participants with Myotonic Dystrophy Type 1 (DM1) will volunteer to participate in this study. The study will be advertised through physician recommendations, outreach and educational activities directed at neuromuscular professionals, the registry website, national and local patient associations, and through patient-focused events, conferences, and scientific meetings across Spain.
Cohort
Prospective
Patient Registry
Other interventionPatient Registry
Genomic Caracterization
Long-read genomic sequencing analyses encompassing CTG expansion characterization and whole-genome genetic and epigenetic profiling.
Proteomic Characterization
Biomarker evaluation
WAIS IV neuropsychological tests
IQ, memory, attention, language
vHOT
Video Hand Opening Time, clinical measure for Myotonic Dystrophy (DM1) tracking hand reopening speed
Muscular Impairment Rating Scale (MIRS)
The Muscular Impairment Rating Scale is a 5-point ordinal clinical scale used to evaluate the severity of muscular impairment in patients with myotonic dystrophy. Scores range from 1 (minimal or no impairment) to 5 (severe muscle impairment). Higher scores indicate worse functional impairment.
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Fundació Institut Germans Trias i Pujol
Lead sponsor
Instituto de Investigacion Sanitaria INCLIVA
Collaborator
Biobizkaia Health Research Institute
Collaborator
Biogipuzkoa Health Research Institute
Collaborator
Germans Trias i Pujol Hospital
Collaborator
Hospital Infanta Sofia
Collaborator
Hospital de Basurto
Collaborator
Hospital Donostia
Collaborator
Hospitales Universitarios Virgen del Rocío
Collaborator
Hospital Universitario Marqués de Valdecilla
Collaborator
Complejo Hospitalario Universitario de Albacete
Collaborator
Hospital Universitario La Fe
Collaborator
Hospital Univeritario Ntra. Sra. de la Candelaria
Collaborator
