Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)
| Autor: | Nikoletta Nikolenko, Darren G. Monckton, Michela Guglieri, Cecilia Jimenez-Moreno, Hanns Lochmüller, Giovanni DiPaolo, A. Atalaia |
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| Jazyk: | angličtina |
| Předmět: |
Male
0301 basic medicine Neurology Myotonic dystrophy Severity of Illness Index 0302 clinical medicine Trinucleotide Repeats Outcome Assessment Health Care Postural Balance education.field_of_study Original Communication Age Factors Middle Aged Sensation Disorders Falls Female DM1 medicine.symptom Psychology Natural history study Balance Adult congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Ataxia Adolescent Population Clinical Neurology Myotonin-Protein Kinase Statistics Nonparametric Young Adult 03 medical and health sciences Cronbach's alpha Rating scale medicine Humans Muscle Strength education Aged Balance (ability) Reproducibility of Results medicine.disease 030104 developmental biology Physical therapy Accidental Falls Neurology (clinical) 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology |
| ISSN: | 0340-5354 |
| DOI: | 10.1007/s00415-017-8399-x |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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