Actualización en distrofia miotónica tipo 1 del adulto

  1. A. Rosado-Bartolomé 1
  2. G. Gutiérrez-Gutiérrez 2
  3. J. Prieto-Matos 3
  1. 1 Medicina Familiar y Comunitaria, Centro de Salud Mar Báltico, Madrid, España Grupo de Trabajo de Neurología SEMERGEN, España
  2. 2 Servicio de Neurología, Hospital Universitario Infanta Sofía, San Sebastián de los Reyes, Madrid, España Grupo de Estudio de Enfermedades Neuromusculares SEN, España
  3. 3 Medicina Familiar y Comunitaria, Centro de Salud Periurbana Norte, Villares de la Reina, Salamanca, España Grupo de Trabajo de Neurología SEMERGEN, España
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Journal:
Semergen: revista española de medicina de familia

ISSN: 1138-3593

Year of publication: 2020

Issue: 5

Pages: 355-362

Type: Article

DOI: 10.1016/J.SEMERG.2020.01.002 DIALNET GOOGLE SCHOLAR

More publications in: Semergen: revista española de medicina de familia

Sustainable development goals

Abstract

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter.

Bibliographic References

  • A.L. Aguilar-Shea, L. Sierra-Santos, J. Castro-Toro, C. Gallardo-Mayo Una familia interesante Semergen., 35 (2009), pp. 287-290 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • N.E. Johnson, E. Zapata Aldana, N. Angeard, T. Ashizawa, K.N. Berggren, C. Marini-Bettolo, et al. Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1 Neurol Clin Pract., 9 (2019), pp. 443-454 CrossRefView Record in ScopusGoogle Scholar
  • C. Gagnon, M.C. Chouinard, L. Laberge, S. Veillette, P. Bégin, R. Breton, et al. Health supervision and anticipatory guidance in adult myotonic dystrophy type 1 Neuromuscul Disord., 20 (2010), pp. 847-851 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • F. Morales-Montero, P. Cuenca-Berger Aspectos genéticos y moleculares de las enfermedades miotónicas Rev Neurol., 38 (2004), pp. 668-674 CrossRefView Record in ScopusGoogle Scholar
  • Sánchez-Tejerina San José D, Palomino Doza J, Valverde Gómez M, Hernández Voth A, Sayas Catalán J, Dominguez González, C. Distrofia miotónica tipo 1: descripción de una serie de 107 pacientes. Presentación oral en la LXXI Reunión Anual de la Sociedad Española de Neurología, 19-23 Nov 2019, Sevilla, España. Google Scholar
  • G. Gutiérrez Gutiérrez, J. Díaz-Manera, M. Almendrote, S. Azriel, J.E. Bárcena, P. Cabezudo García, et al. Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1 DM1 o enfermedad de Steinert Med Clin (Barc)., 153 (2019), pp. 81-82 Google Scholar
  • Prevalence and incidence of rare diseases: Bibliographic data. Orphanet Report Series, Rare Diseases Collection, January 2019, Number 1: Diseases listed in alphabetical order [consultado 10 Jul 2019]. Disponible en: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Google Scholar
  • L. Hernáez, A.C. Zoni, M.F. Domínguez, M.D. Esteban, C. Domínguez, C. Prior, et al. Distrofia miotónica tipo 1 en la Comunidad de Madrid: complementariedad y rentabilidad de diversas fuentes de información Gacet Sanit., 33 (Espec Congr.) (2019), p. 8 View Record in ScopusGoogle Scholar
  • R. Fernandez-Torrón, M. Maneiro Vicente, I. Martí Carrera, M. Lafuente Hidalgo, A.M. Cobo Esteban, L. Martorell Sampol, et al. Miotonías distróficas E. Gutiérrez-Rivas (Ed.), Manual de enfermedades neuromusculares, Ergon, Majadahonda (2017), pp. 417-427 View Record in ScopusGoogle Scholar
  • I. Illa, M. Olivé, A. Jáuregui, J. Bárcena, I.A. González, I. Martí, et al. Enfermedades musculares y de la unión neuromuscular J.J. Zarranz Imirizaldu (Ed.), Neurología, Elsevier, España (2018), pp. 632-633 View Record in ScopusGoogle Scholar
  • L.C. Álvaro Distrofia miotónica de Steinert en un retrato del Museo del Prado Neurología., 23 (2008), p. 136 Google Scholar
  • F. Buitrago Ramírez, F.L. Pérez Caballero, N. Rivera Jiménez, C. Gato Núñez, R. Gallego Fuentes Miopatías: criterios de sospecha y estudios que se han de realizar en atención primaria FMC., 23 (2016), pp. 379-388 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • J.J. Poza Aldea, A. López de Munain Enfermedades musculares y de la placa motora J.F. Martí Massó (Ed.), Neurología para médicos de atención primaria, Ergon, Majadahonda (2011), pp. 129-136 View Record in ScopusGoogle Scholar
  • J. García-Planells, J. Molano, S. Borrego, Grupo AEGH/CIBERER Recomendaciones para el diagnóstico genético de la distrofia miotónica Med Clin (Barc)., 136 (2011), pp. 303-308 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • A.C. Jimenez-Moreno, J. Raaphorst, H. Babacic, L. Wood, B. van Engelen, H. Lochmüller, et al. Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey Neuromuscul Disord., 28 (2018), pp. 229-235 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • D. Hilton-Jones, M. Bowler, H. Lochmueller, C. Longman, R. Petty, M. Roberts, et al. Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective Neuromuscul Disord., 22 (2012), pp. 597-603 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • J.A. Bertrand, S. Jean, L. Laberge, C. Gagnon, J. Mathieu, J.F. Gagnon, et al. Psychological characteristics of patients with myotonic dystrophy type 1 Acta Neurol Scand., 132 (2015), pp. 49-58 CrossRefView Record in ScopusGoogle Scholar
  • E. Bugiardini, G. Meola, DMN-CNS Group Consensus on cerebral involvement in myotonic dystrophy. Workshop report: May 24-27, 2013, Ferrere (AT), Italy Neuromuscul Disord., 24 (2014), pp. 445-452 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • B. Gallais, M. Montreuil, M. Gargiulo, B. Eymard, C. Gagnon, L. Laberge Prevalence and correlates of apathy in myotonic dystrophy type 1 BMC Neurol., 15 (2015), p. 148, 10.1186/s12883-015-0401-6 Google Scholar
  • S. Jean, L. Richer, L. Laberge, J. Mathieu Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) Orphanet J Rare Dis., 9 (2014), p. 186, 10.1186/s13023-014-0186-5 View Record in ScopusGoogle Scholar
  • M. Facenda-Lorenzo, J. Hernández-Alfonso, M. Rodríguez-Esteban, J.C. de León-Hernández, J.J. Grillo-Pérez Manifestaciones cardiacas en los pacientes con distrofia miotónica tipo 1 seguidos de forma protocolizada en una consulta monográfica Rev Esp Cardiol., 66 (2013), pp. 193-197 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • V.A. Sansone, C. Gagnon, participants of the 207th ENMC Workshop 207 ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27-29 June 2014 Naarden, The Nederlands Neuromuscul Disord., 25 (2015), pp. 432-442 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • M.C. Ørngreen, P. Arlien-SobØrg, N. Duno, J.M. Hertz, J. Vissing Endocrine function in 97 patients with myotonic dystrophy type 1 J Neurol., 259 (2012), pp. 912-920 CrossRefView Record in ScopusGoogle Scholar
  • C. Terraccciano, E. Rastelli, M. Morello, M. Celi, E. Bucci, G. Antonini, et al. Vitamin D deficiency in myotonic dystrophy type 1 J Neurol., 260 (2013), pp. 330-334 Google Scholar
  • R. Burgos, B. Sarto, H. Segurola, A. Romagosa, C. Puiggrós, C. Vázquez, et al. Traducción y validación de la versión en español de la escala EAT-10 (Eating Assessment Tool-10) para el despistaje de la disfagia Nutr Hosp., 27 (2012), pp. 2048-2054 Google Scholar
  • Hoppe K, Reyher C, Jurkatt-Rott K, Lehmann-Horn F, Kingler W. Recomendaciones para anestesia en pacientes afectados por distrofia miotónica 1 y 2; octubre 2014 [consultado 10 Jul 2019]. Disponible en: https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/myotonic-dystrophies-type-1-and-2/186-distrofia-miotónica-1-y-2/file.html Google Scholar
  • M.A.H. Minis, J.S. Kalkman, R.P. Akkermans, J.A. Engels, P.A. Huijbregts, G. Bleijenberg, et al. Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status: a secondary analysis J Rehabil Med., 42 (2010), pp. 60-65 CrossRefView Record in ScopusGoogle Scholar
Data source: Dialnet