Internet Archive Scholar

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert

G. Gutiérrez Gutiérrez, J. Díaz-Manera, M. Almendrote, S. Azriel, J. Eulalio Bárcena, P. Cabezudo García, A. Camacho Salas, C. Casanova Rodríguez, A.M. Cobo, P. Díaz Guardiola, R. Fernández-Torrón, M.P. Gallano Petit (+22 others)
2019 Neurología  

Preserved Fulltext

fulltext thumbnail
Web Archive Capture PDF (1.5 MB)
https://web.archive.org/web/20210427220231/https://repositorio.uam.es/bitstream/handle/10486/692384/guia_gutierrez_Neurologia_2020.pdf;jsessionid=801A1CA0B2AC4DEFF90377C29AF6401F?sequence=1

A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2021; you can also visit the original URL. The file type is application/pdf.

Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis,
more » ... follow-up and treatment of the complications of MD1. Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
doi:10.1016/j.nrl.2019.01.001 pmid:31003788 fatcat:hdhmtfukurg7xmq4mpwcfiwwv4
DOAJ lang:es
Citation

G. Gutiérrez Gutiérrez, J. Díaz-Manera, M. Almendrote, S. Azriel, J. Eulalio Bárcena, P. Cabezudo García, A. Camacho Salas, C. Casanova Rodríguez, A.M. Cobo, P. Díaz Guardiola, R. Fernández-Torrón, M.P. Gallano Petit, P. García Pavía, M. Gómez Gallego, A.J. Gutiérrez Martínez, I. Jericó, S. Kapetanovic García, A. López de Munaín Arregui, L. Martorell, G. Morís de la Tassa, R. Moreno Zabaleta, J.L. Muñoz-Blanco, J. Olivar Roldán, S.I. Pascual Pascual, R. Peinado Peinado, H. Pérez, J.J. Poza Aldea, M. Rabasa, A. Ramos, A. Rosado Bartolomé, M.Á. Rubio Pérez, J.A. Urtizberea, G. Zapata-Wainberg, E. Gutiérrez-Rivas. "Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert." Neurología 35.3 (2019) 185-206