Abstract
Background
Spinal and bulbar muscular atrophy (SBMA) is a late onset, X-linked neuromuscular disease. Bulbar symptoms are a main characteristic of the disease but a tool for their clinical evaluation still does not exist. The aim of this study was to design and test a new scale (6-K-scale) for evaluation of bulbar function in SBMA.
Methods
We considered 60 genetically confirmed SBMA patients and built a scale to evaluate the V, VII, IX, X, and XII cranial nerves (CN) and the ansa cervicalis. Functional status was evaluated through the Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS), 6-min-walk-test (6MWT), Adult Myopathy Assessment Tool (AMAT) scale, and FVC%. Twenty patients underwent a re-test after 3 weeks, while 31 were tested longitudinally after 6 months. Validation of the scale included reliability assessment and factorial analysis. To evaluate convergent validity, correlations between the 6-K-scale and functional parameters were performed.
Results
Internal consistency as measured by Cronbach’s alpha was high (0.85) as was test–retest reliability. Principal component analysis yielded a six-factor solution accounting for 71.7% of the variance. The scale score was strongly correlated with the functional parameters.
Conclusion
In conclusion, we designed and validated a new scale for bulbar evaluation in SBMA patients. This scale will be a useful tool in the clinical practice as well as a possible outcome measure in clinical trials.
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Acknowledgments
First and foremost, we thank the patients and their families for participating in this study.
Funding
This study was partially funded by the AFM Telethon (to G.S.), ASLA Onlus, Ricerca Finalizzata from the Italian Ministry of Health (to G.S.), and Telethon Biobank and EuroBiobank (to E.P.).
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The ethics committees of the Azienda Ospedaliera of Padova and of the University of Padova (Italy) approved the study.
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Giorgia, Q., Irene, B., Laura, M. et al. Preliminary design and validation of the “6-K-scale” for bulbar symptoms evaluation in SBMA. Neurol Sci 40, 1393–1401 (2019). https://doi.org/10.1007/s10072-019-03850-2
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DOI: https://doi.org/10.1007/s10072-019-03850-2