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Lookup NU author(s): Libby Wood, Dr Isabell Cordts, Dr Jose Atalaia, Professor Chiara Marini Bettolo, Professor Volker StraubORCiD, Dr Cecilia Jimenez MorenoORCiD, Dr Nikoletta Nikolenko, Cecilia Jimenez Moreno, Rachel ThompsonORCiD, Professor Hanns Lochmuller
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2017 The Author(s) Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional “snapshot” analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included. An almost even distribution was seen between genders and a broad range of ages was present from 8 months to 78 years, with the largest proportion between 30 and 59 years. The two most frequent symptoms were fatigue and myotonia, reported by 79 and 78% of patients, respectively. The severity of myotonia correlated with the severity of fatigue as well as mobility impairment, and dysphagia occurred mostly in patients also reporting myotonia. Men reported significantly more frequent severe myotonia, whereas severe fatigue was more frequently reported by women. Cardiac abnormalities were diagnosed in 48% of patients and more than one-third of them needed a cardiac implant. Fifteen percent of patients used a non-invasive ventilation and cataracts were removed in 26% of patients, 65% of which before the age of 50 years. The registry’s primary aim was to facilitate and accelerate clinical research. However, these data also allow us to formulate questions for hypothesis-driven research that may lead to improvements in care and treatment.
Author(s): Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmuller H
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2017
Volume: 264
Issue: 5
Pages: 979-988
Print publication date: 01/05/2017
Online publication date: 10/04/2017
Acceptance date: 03/04/2017
Date deposited: 27/04/2017
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer Medizin
URL: https://doi.org/10.1007/s00415-017-8483-2
DOI: 10.1007/s00415-017-8483-2
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