Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.
Clinical guideline
Complicaciones
Complications
Disfagia
Distrofia miotónica tipo 1
Dysphagia
Enfermedad de Steinert
Guía clínica
Myotonic dystrophy type 1
Recomendaciones
Recommendations
Steinert's disease
Journal
Neurologia
ISSN: 2173-5808
Titre abrégé: Neurologia (Engl Ed)
Pays: Spain
ID NLM: 101778590
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
06
09
2018
accepted:
05
01
2019
pubmed:
21
4
2019
medline:
9
2
2021
entrez:
21
4
2019
Statut:
ppublish
Résumé
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.
Sections du résumé
BACKGROUND AND OBJECTIVES
OBJECTIVE
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
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
CONCLUSIONS
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
CONCLUSIONS
MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Identifiants
pubmed: 31003788
pii: S0213-4853(19)30019-2
doi: 10.1016/j.nrl.2019.01.001
pii:
doi:
Types de publication
Journal Article
Langues
eng
spa
Sous-ensembles de citation
IM
Pagination
185-206Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2018 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.