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Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1

Artikel i vetenskaplig tidskrift
Författare Anna-Karin Kroksmark
M. L. Stridh
A. B. Ekstrom
Publicerad i Neuromuscular Disorders
Volym 27
Nummer/häfte 9
Sidor 826-835
ISSN 0960-8966
Publiceringsår 2017
Publicerad vid Institutionen för neurovetenskap och fysiologi
Sidor 826-835
Språk en
Länkar doi.org/10.1016/j.nmd.2017.05.018
Ämnesord Motor performance, Muscle function, Muscle weakness, Motor skills, Motor development, duchenne muscular-dystrophy, ctg-repeat sequence, children, disease, force, size, Neurosciences & Neurology
Ämneskategorier Neurologi


The aims of this study were to explore how motor function and muscle strength change over time in the congenital and childhood forms of myotonic dystrophy type 1, further to investigate whether sex, age, disease severity or size of the mutation could explain these changes. Motor function and isometric muscle strength were evaluated at three occasions during 1999-2013 in 57 patients aged 0.7-28.9 years. Median time between first and last assessment was 11.5 years ranging from 9.6 to 13.3 years. The study shows that motor function improves during the first decade, is most pronounced during the first six years, reaches a plateau during adolescence and starts to deteriorate in the beginning of the second decade. The most predictive variables for change are age (p < 0.0001) and number of CTG-repeat expansions (p = 0.0018). Sex or disease severity grade do not predict changes in motor function. Deterioration of muscle strength is most pronounced in ankle dorsiflexors. Knowledge of development and deterioration of motor function is important for clinical decision making and for planning of interventions. This knowledge can also be of interest for patient recruitment in drug trials, since treatment effect might be easier to evaluate in the stable phases of this progressive disorder. (C) 2017 Elsevier B.V. All rights reserved.

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