RT Journal Article
T1 Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
T2 Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.
A1 Gutiérrez Gutiérrez, G
A1 Díaz-Manera, J
A1 Almendrote, M
A1 Azriel, S
A1 Eulalio Bárcena, J
A1 Cabezudo García, P
A1 Camacho Salas, A
A1 Casanova Rodríguez, C
A1 Cobo, A M
A1 Díaz Guardiola, P
A1 Fernández-Torrón, R
A1 Gallano Petit, M P
A1 García Pavía, P
A1 Gómez Gallego, M
A1 Gutiérrez Martínez, A J
A1 Jericó, I
A1 Kapetanovic García, S
A1 López de Munaín Arregui, A
A1 Martorell, L
A1 Morís de la Tassa, G
A1 Moreno Zabaleta, R
A1 Muñoz-Blanco, J L
A1 Olivar Roldán, J
A1 Pascual Pascual, S I
A1 Peinado Peinado, R
A1 Pérez, H
A1 Poza Aldea, J J
A1 Rabasa, M
A1 Ramos, A
A1 Rosado Bartolomé, A
A1 Rubio Pérez, M Á
A1 Urtizberea, J A
A1 Zapata-Wainberg, G
A1 Gutiérrez-Rivas, E
K1 Clinical guideline
K1 Complicaciones
K1 Complications
K1 Disfagia
K1 Distrofia miotónica tipo 1
K1 Dysphagia
K1 Enfermedad de Steinert
K1 Guía clínica
K1 Myotonic dystrophy type 1
K1 Recomendaciones
K1 Recommendations
K1 Steinert's disease
AB 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, 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.
YR 2019
FD 2019-04-16
LK http://hdl.handle.net/10668/13852
UL http://hdl.handle.net/10668/13852
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RD Apr 12, 2025