Toggle Main Menu Toggle Search

Open Access padlockePrints

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease [Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert]

Lookup NU author(s): Professor Jordi Diaz ManeraORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2018 Sociedad Española de NeurologíaBackground and objectives: 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. Material and methods: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. Recommendations: 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. Conclusion: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Publication metadata

Author(s): Gutierrez Gutierrez G, Diaz-Manera J, Almendrote M, Azriel S, Eulalio Barcena J, Cabezudo Garcia P, Camacho Salas A, Casanova Rodriguez C, Cobo AM, Diaz Guardiola P, Fernandez-Torron R, Gallano Petit MP, Garcia Pavia P, Gomez Gallego M, Gutierrez Martinez AJ, Jerico I, Kapetanovic Garcia S, Lopez de Munain Arregui A, Martorell L, Moris de la Tassa G, Moreno Zabaleta R, Munoz-Blanco JL, Olivar Roldan J, Pascual Pascual SI, Peinado Peinado R, Perez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolome A, Rubio Perez MA, Urtizberea JA, Zapata-Wainberg G, Gutierrez-Rivas E

Publication type: Article

Publication status: Published

Journal: Neurologia

Year: 2019

Volume: 35

Issue: 3

Pages: 185-206

Print publication date: 01/04/2020

Online publication date: 16/04/2019

Acceptance date: 05/01/2019

Date deposited: 27/02/2020

ISSN (print): 0213-4853

ISSN (electronic): 1578-1968

Publisher: Spanish Society of Neurology


DOI: 10.1016/j.nrl.2019.01.001


Altmetrics provided by Altmetric