Disease burden of myotonic dystrophy type 1

Journal of Neurology
Erik LandfeldtHanns Lochmüller

Abstract

The objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder. 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]. 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. We show that DM1...Continue Reading

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Citations

Jan 1, 2020·Acta Neurologica Scandinavica·Erik LandfeldtHanns Lochmüller
Nov 3, 2020·Disability and Rehabilitation·Kateri RaymondCynthia Gagnon
Oct 30, 2020·Frontiers in Neurology·Costanza SimonciniGabriele Siciliano
Jan 30, 2021·Neuromuscular Disorders : NMD·William BeauchesneKarine Tremblay
Feb 19, 2021·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Ralf WeijsAnne-Marie van Cappellen van Walsum
Nov 24, 2020·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Xuelin FengSushan Luo
Jul 13, 2021·Journal of Neuromuscular Diseases·Daniël van AsUNKNOWN OPTIMISTIC consortium

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Methods Mentioned

BETA
PCR
cognitive behavioural therapy

Clinical Trials Mentioned

NCT02831504

Software Mentioned

CLIQS
INQoL

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