Disease burden of myotonic dystrophy type 1

Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G. , Gorman, G., Turner, C. and Lochmüller, H. (2019) Disease burden of myotonic dystrophy type 1. Journal of Neurology, 266(4), pp. 998-1006. (doi: 10.1007/s00415-019-09228-w) (PMID:30788616) (PMCID:PMC6420885)

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Objective: The objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder. Methods: Adults with DM1 were recruited as part of the PhenoDM1 study from Newcastle University (Newcastle upon Tyne, UK). Disease burden data were recorded through the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Results were examined by sex and clinical variables [e.g. the six-minute walk test (6MWT), the Mini Mental State Examination, and estimated progenitor and modal allele CTG repeat length]. Results: Our sample consisted of 60 patients with DM1 (mean age: 45 years; 45% female). Muscle weakness and fatigue constituted the two most common disease manifestations, reported by 93% and 90% of patients, respectively, followed by muscle locking (73%). Most patients (> 55%) reported feeling anxious/worried, depressed, frustrated, and/or having low confidence/self-esteem, 23% and 33% indicated substantial impairment of daily and leisure activities, respectively, and 47% did not work as a consequence of the disease. Estimated progenitor CTG length corrected by age correlated surprisingly well with INQoL scores. Differences by sex were generally minor. Conclusion: We show that DM1 is associated with a substantial disease burden resulting in impairment across many different domains of patients’ lives, emphasizing the need for a holistic approach to medical management. Our results also show that the INQoL records relevant information about patients with DM1, but that further investigation of the psychometric properties of the scale is needed for meaningful interpretation of instrument scores.

Item Type:Articles
Keywords:DM1, disease burden, genetics, INQoL, myotonic dystrophy, quality of life.
Glasgow Author(s) Enlighten ID:Monckton, Professor Darren and Cumming, Dr Sarah
Authors: Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D. G., Gorman, G., Turner, C., and Lochmüller, H.
College/School:College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology
Journal Name:Journal of Neurology
ISSN (Online):1432-1459
Published Online:20 February 2019
Copyright Holders:Copyright © 2019 The Authors
First Published:First published in Journal of Neurology, Neurosurgery and Psychiatry 266(4):998-1006
Publisher Policy:Reproduced under a Creative Commons License

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