TY - JOUR
T1 - Activities of daily living in myotonic dystrophy type 1
AU - Landfeldt, Erik
AU - Nikolenko, Nikoletta
AU - Jimenez-Moreno, Cecilia
AU - Cumming, Sarah
AU - Monckton, Darren G.
AU - Faber, Catharina G.
AU - Merkies, Ingemar S. J.
AU - Gorman, Grainne
AU - Turner, Chris
AU - Lochmueller, Hanns
PY - 2020/5
Y1 - 2020/5
N2 - Objectives The objective of this cross-sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1). Materials and Methods Adults with genetically confirmed DM1 were recruited from Newcastle University (Newcastle upon Tyne, UK) and University College London Hospitals NHS Foundation Trust (London, UK). Data on activities of daily living were recorded through the DM1-Activ (c) (scale scores range between 0 and 100, where a higher/lower score indicates a higher/lower ability). Results Our sample comprised 192 patients with DM1 (mean age: 46 years; 51% female). Patients reported most difficulties with running, carrying and putting down heavy objects, and standing on one leg, and least difficulties with eating soup, washing upper body, and taking a shower. Irrespective of the disease duration (mean: 20 years), most patients were able to perform basic and instrumental activities of daily living (eg personal hygiene and grooming, showering, eating, cleaning and shopping), with the exception of functional mobility/transfer tasks (eg walking uphill and running). The mean DM1-Activ (c) total score was estimated at 71 (95% CI: 68-74). Estimated progenitor cytosine-thymine-guanine repeat length and age explained 27% of the variance in DM1-Activ (c) total scores (P <.001). Conclusions We show that DM1 impairs performance of activities of daily living, in particular those requiring a high degree of muscle strength, stability and coordination. Yet, across the evolution of the disease, the majority of patients will still be able to independently perform most basic and instrumental activities of daily living.
AB - Objectives The objective of this cross-sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1). Materials and Methods Adults with genetically confirmed DM1 were recruited from Newcastle University (Newcastle upon Tyne, UK) and University College London Hospitals NHS Foundation Trust (London, UK). Data on activities of daily living were recorded through the DM1-Activ (c) (scale scores range between 0 and 100, where a higher/lower score indicates a higher/lower ability). Results Our sample comprised 192 patients with DM1 (mean age: 46 years; 51% female). Patients reported most difficulties with running, carrying and putting down heavy objects, and standing on one leg, and least difficulties with eating soup, washing upper body, and taking a shower. Irrespective of the disease duration (mean: 20 years), most patients were able to perform basic and instrumental activities of daily living (eg personal hygiene and grooming, showering, eating, cleaning and shopping), with the exception of functional mobility/transfer tasks (eg walking uphill and running). The mean DM1-Activ (c) total score was estimated at 71 (95% CI: 68-74). Estimated progenitor cytosine-thymine-guanine repeat length and age explained 27% of the variance in DM1-Activ (c) total scores (P <.001). Conclusions We show that DM1 impairs performance of activities of daily living, in particular those requiring a high degree of muscle strength, stability and coordination. Yet, across the evolution of the disease, the majority of patients will still be able to independently perform most basic and instrumental activities of daily living.
KW - activities of daily living
KW - quality of life
KW - social participation
KW - OUTCOME MEASURES
KW - REPEAT
U2 - 10.1111/ane.13215
DO - 10.1111/ane.13215
M3 - Article
C2 - 31889295
SN - 0001-6314
VL - 141
SP - 380
EP - 387
JO - Acta Neurologica Scandinavica
JF - Acta Neurologica Scandinavica
IS - 5
ER -