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- W2954467660 abstract "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 specialized multidisciplinary follow-up." @default.
- W2954467660 created "2019-07-12" @default.
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- W2954467660 date "2019-07-01" @default.
- W2954467660 modified "2023-10-18" @default.
- W2954467660 title "Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease" @default.
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