ePrints

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)

Lookup NU author(s): Dr Cecilia Jimenez MorenoORCiD, Cecilia Jimenez Moreno, Dr Nikoletta Nikolenko, Dr Jose Atalaia, Professor Michela GuglieriORCiD, Professor Hanns Lochmuller

Downloads

• Published version [.pdf]

Licence

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

Abstract

© 2017 The Author(s) Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies. This study aims to investigate the use of a scale previously described for the assessment and rating of ataxia (SARA) with the hypothesis that it could have utility in DM1 patients as a measure of disease severity and risk of falling. Data from 54 DM1 patients were pulled from the PHENO-DM1 natural history study for analysis. Mean SARA score in the DM1 population was 5.45 relative to the maximum score of eight. A flooring effect (score 0) was observed in mild cases within the sample. Inter-rater and test–retest reliability was high with intraclass coefficients (ICC) of 0.983 and 1.00, respectively. Internal consistency was acceptable as indicated by a Cronbach’s alpha of 0.761. Component analysis revealed two principle components. SARA correlated with: (1) all measures of muscle function tested, including quantitative muscle testing of ankle dorsiflexion (r = −0.584*), the 6 min walk test (r = −0.739*), 10 m walk test (r = 0.741*), and the nine hole peg test (r = 0.602*) and (2) measures of disease severity/burden, such as MIRS (r = 0.718*), MDHI (r = 0.483*), and DM1-Activ (r = −0.749*) (*p < 0.001). The SARA score was predicted by an interaction between modal CTG repeat length and age at sampling (r = 0.678, p = 0.003). A score of eight or above predicted the use of a walking aid with a sensitivity of 100% and a specificity of 85.7%. We suggest that further research is warranted to ascertain whether SARA or components of SARA are useful outcome measures for clinical trials in DM1. As a tool, it can be used for gathering information about disease severity/burden and helping to identify patients in need of a walking aid, and can potentially be applied in both research and healthcare settings.

Publication metadata

Author(s): DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2017

Volume: 264

Pages: 701-708

Print publication date: 01/04/2017

Online publication date: 06/02/2017

Acceptance date: 17/01/2017

Date deposited: 04/05/2017

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer Medizin

URL: https://doi.org/10.1007/s00415-017-8399-x

DOI: 10.1007/s00415-017-8399-x

Altmetrics

Funding

Share