Details

Autor(en) / Beteiligte

• Gutiérrez Gutiérrez, Gerardo
• Díaz-Manera, Jordi
• Almendrote, Míriam
• Azriel, Sharona
• Eulalio Bárcena, José
• Cabezudo García, Pablo
• Camacho Salas, Ana
• Casanova Rodríguez, Carlos
• Cobo, Ana María
• Díaz Guardiola, Patricia
• Fernández-Torrón, Roberto
• Gallano Petit, María Pía
• García Pavía, Pablo
• Gómez Gallego, María
• Gutiérrez Martínez, Antonio José
• Jericó, Ivonne
• Kapetanovic García, Solange
• López de Munaín Arregui, Adolfo
• Martorell, Loreto
• Morís de la Tassa, Germán
• Moreno Zabaleta, Raúl
• Muñoz-Blanco, José Luis
• Olivar Roldán, Juana
• Pascual Pascual, Samuel Ignacio
• Peinado Peinado, Rafael
• Pérez, Helena
• Poza Aldea, Juan José
• Rabasa, María
• Ramos, Alba
• Rosado Bartolomé, Alfredo
• Rubio Pérez, Miguel Ángel
• Urtizberea, Jon Andoni
• Zapata-Wainberg, Gustavo
• Gutiérrez-Rivas, Eduardo

Titel

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

Ist Teil von

• Medicina clinica, 2019-07, Vol.153 (2), p.82.e1

Ort / Verlag

Spain

Erscheinungsjahr

2019

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.