• Medicina clinica · Jul 2019

    Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

    • Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Pablo Cabezudo García, Ana Camacho Salas, Carlos Casanova Rodríguez, Ana María Cobo, Patricia Díaz Guardiola, Roberto Fernández-Torrón, María Pía Gallano Petit, Pablo García Pavía, María Gómez Gallego, Antonio José Gutiérrez Martínez, Ivonne Jericó, Solange Kapetanovic García, Adolfo López de Munaín Arregui, Loreto Martorell, Germán Morís de la Tassa, Raúl Moreno Zabaleta, José Luis Muñoz-Blanco, Juana Olivar Roldán, Samuel Ignacio Pascual Pascual, Rafael Peinado Peinado, Helena Pérez, Juan José Poza Aldea, María Rabasa, Alba Ramos, Alfredo Rosado Bartolomé, Miguel Ángel Rubio Pérez, Jon Andoni Urtizberea, Gustavo Zapata-Wainberg, and Eduardo Gutiérrez-Rivas.
    • Servicio de Neurología, Hospital Universitario Infanta Sofía, San Sebastián de los Reyes, Madrid, España. Electronic address: g3.neuro@gmail.com.
    • Med Clin (Barc). 2019 Jul 19; 153 (2): 82.e1-82.e17.

    Background And ObjectivesSteinert'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.Material And MethodsConsensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide.RecommendationsThe 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.ConclusionMD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

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