Change over time in ability to perform activities of daily living in myotonic dystrophy type 1
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ORIGINAL COMMUNICATION
Change over time in ability to perform activities of daily living in myotonic dystrophy type 1 Erik Landfeldt1 · Nikoletta Nikolenko2 · Cecilia Jimenez‑Moreno3,4 · Sarah Cumming5 · Darren G. Monckton5 · Catharina G. Faber6 · Ingemar S. J. Merkies6,7 · Grainne Gorman8 · Chris Turner2,9 · Hanns Lochmüller10,11 Received: 17 February 2020 / Revised: 25 May 2020 / Accepted: 1 June 2020 © The Author(s) 2020
Abstract Objective The objective of this longitudinal, observational study was to investigate change over time in ability to perform activities of daily living in myotonic dystrophy type 1 (DM1). Methods Adults with genetically confirmed DM1 were recruited as part of the PhenoDM1 study in the UK. Data on activities of daily living were recorded through the DM1-ActivC at baseline and a follow-up visit after 12 (± 3) months. A subset of patients had advanced genetic testing to determine the size of the progenitor allele. Results Our sample comprised 150 patients with DM1 (mean age: 45 years; 52% female). Mean follow-up was 383 days. Mean DM1-ActivC total score at baseline was 71.24 (95% confidence interval 67.77–74.71) and at the follow-up visit 69.04 (65.54–72.54). Approximately 43% of patients had a lower score at the follow-up visit (indicating a decreased ability to perform activities of daily living), 24% a higher score (indicating an increased ability), and 33% the same score at baseline and follow-up. The mean annual change in the DM1-ActivC total score, estimated at − 2.06 (− 3.54 to − 0.59), was significantly related to patients’ baseline score, but not sex, disease duration, timed test results, or cytosine-thymine-guanine repeat length. Conclusions Change over time in ability to perform activities of daily living as recorded through the DM1-ActivC varies substantially between patients with DM1. Our data contribute to the understanding of the natural evolution of the disease, and should be helpful to inform the design of future trials based on the DM1-ActivC. Keywords Disability · Participation · Activities of daily living · PhenoDM1
Introduction Myotonic dystrophy type 1 (DM1) is a progressive, yet highly heterogeneous multi-system disorder affecting muscle strength and mobility, amongst many other clinical domains [1]. Individually or collectively, these disease manifestations lead to impaired performance in daily life and restriction in social participation [2, 3]. The clinical variability of DM1, which partly has been attributed to the nature of the underlying gene defect as expressed via unstable triplet repeats of Erik Landfeldt and Nikoletta Nikolenko equal contribution. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00415-020-09970-6) contains supplementary material, which is available to authorized users. * Erik Landfeldt [email protected] Extended author information available on the last page of the article
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