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. 2019 Jul 19;153(2):82.e1-82.e17.
doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24.

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

[Article in English, Spanish]
Gerardo Gutiérrez Gutiérrez  1 , Jordi Díaz-Manera  2 , Míriam Almendrote  3 , Sharona Azriel  4 , José Eulalio Bárcena  5 , Pablo Cabezudo García  6 , Ana Camacho Salas  7 , Carlos Casanova Rodríguez  8 , Ana María Cobo  9 , Patricia Díaz Guardiola  4 , Roberto Fernández-Torrón  10 , María Pía Gallano Petit  11 , Pablo García Pavía  12 , María Gómez Gallego  13 , Antonio José Gutiérrez Martínez  14 , Ivonne Jericó  15 , Solange Kapetanovic García  16 , Adolfo López de Munaín Arregui  17 , Loreto Martorell  18 , Germán Morís de la Tassa  19 , Raúl Moreno Zabaleta  20 , José Luis Muñoz-Blanco  21 , Juana Olivar Roldán  4 , Samuel Ignacio Pascual Pascual  21 , Rafael Peinado Peinado  22 , Helena Pérez  23 , Juan José Poza Aldea  10 , María Rabasa  24 , Alba Ramos  3 , Alfredo Rosado Bartolomé  25 , Miguel Ángel Rubio Pérez  26 , Jon Andoni Urtizberea  9 , Gustavo Zapata-Wainberg  27 , Eduardo Gutiérrez-Rivas  28
Affiliations

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

[Article in English, Spanish]
Gerardo Gutiérrez Gutiérrez et al. Med Clin (Barc). .

Abstract

Background 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.

Keywords: Clinical guideline; Complicaciones; Complications; Disfagia; Distrofia miotónica tipo 1; Dysphagia; Enfermedad de Steinert; Guía clínica; Myotonic dystrophy type 1; Recomendaciones; Recommendations; Steinert's disease.

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  • Reply.
    Gutiérrez-Gutiérrez G. Gutiérrez-Gutiérrez G. Med Clin (Barc). 2021 Jan 8;156(1):42. doi: 10.1016/j.medcli.2019.10.009. Epub 2019 Nov 15. Med Clin (Barc). 2021. PMID: 31740069 English, Spanish. No abstract available.
  • Ocular findings in patients affected by myotonic dystrophy.
    De Bernardo M, Vitiello L, Rosa N. De Bernardo M, et al. Med Clin (Barc). 2021 Jan 8;156(1):41-42. doi: 10.1016/j.medcli.2019.09.003. Epub 2019 Nov 26. Med Clin (Barc). 2021. PMID: 31784115 English, Spanish. No abstract available.
  • [Myotonic dystrophy and primary care].
    Domínguez-González C. Domínguez-González C. Semergen. 2020 Oct;46(7):439-440. doi: 10.1016/j.semerg.2020.09.001. Epub 2020 Oct 7. Semergen. 2020. PMID: 33039262 Spanish. No abstract available.

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