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Neurologia (Engl Ed) ; 35(3): 185-206, 2020 Apr.
Artículo en Inglés, Español | MEDLINE | ID: mdl-31003788

RESUMEN

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.


Asunto(s)
Asesoramiento Genético , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genética , Guías de Práctica Clínica como Asunto/normas , Trastornos de Deglución , Estudios de Seguimiento , Humanos , Distrofia Miotónica/complicaciones
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