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Disease burden of myotonic dystrophy type 1

Lookup NU author(s): Dr Nikoletta Nikolenko, Dr Cecilia Jimenez Moreno, Dr Grainne Gorman, Professor Hanns Lochmuller

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

© 2019, The Author(s). 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.


Publication metadata

Author(s): Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, Turner C, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2019

Volume: 266

Issue: 4

Pages: 988-1006

Print publication date: 01/04/2019

Online publication date: 20/02/2019

Acceptance date: 03/02/2019

Date deposited: 04/03/2019

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer Medizin

URL: https://doi.org/10.1007/s00415-019-09228-w

DOI: 10.1007/s00415-019-09228-w


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