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Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

OBJECTIVES: To assess natural history and 12-month change of a series of scales and functional outcome measures in a cohort of 117 patients with primary mitochondrial myopathy (PMM). METHODS: Twelve months follow-up data of 117 patients with PMM were collected. We analysed the 6-min walk test (6MWT)...

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Autores principales: Montano, V., Lopriore, P., Gruosso, F., Carelli, V., Comi, G. P., Filosto, M., Lamperti, C., Mongini, T., Musumeci, O., Servidei, S., Tonin, P., Toscano, A., Primiano, G., Valentino, M. L., Bortolani, S., Marchet, S., Ricci, G., Modenese, A., Cotti Piccinelli, S., Risi, B., Meneri, M., Arena, I. G., Siciliano, G., Mancuso, Michelangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386197/
https://www.ncbi.nlm.nih.gov/pubmed/35980466
http://dx.doi.org/10.1007/s00415-022-11324-3
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author Montano, V.
Lopriore, P.
Gruosso, F.
Carelli, V.
Comi, G. P.
Filosto, M.
Lamperti, C.
Mongini, T.
Musumeci, O.
Servidei, S.
Tonin, P.
Toscano, A.
Primiano, G.
Valentino, M. L.
Bortolani, S.
Marchet, S.
Ricci, G.
Modenese, A.
Cotti Piccinelli, S.
Risi, B.
Meneri, M.
Arena, I. G.
Siciliano, G.
Mancuso, Michelangelo
author_facet Montano, V.
Lopriore, P.
Gruosso, F.
Carelli, V.
Comi, G. P.
Filosto, M.
Lamperti, C.
Mongini, T.
Musumeci, O.
Servidei, S.
Tonin, P.
Toscano, A.
Primiano, G.
Valentino, M. L.
Bortolani, S.
Marchet, S.
Ricci, G.
Modenese, A.
Cotti Piccinelli, S.
Risi, B.
Meneri, M.
Arena, I. G.
Siciliano, G.
Mancuso, Michelangelo
author_sort Montano, V.
collection PubMed
description OBJECTIVES: To assess natural history and 12-month change of a series of scales and functional outcome measures in a cohort of 117 patients with primary mitochondrial myopathy (PMM). METHODS: Twelve months follow-up data of 117 patients with PMM were collected. We analysed the 6-min walk test (6MWT), timed up-and-go test (× 3) (3TUG), five-times sit-to-stand test (5XSST), timed water swallow test (TWST), and test of masticating and swallowing solids (TOMASS) as functional outcome measures; the Fatigue Severity Scale and West Haven-Yale Multidimensional pain inventory as patient-reported outcome measures. PMM patients were divided into three phenotypic categories: mitochondrial myopathy (MiMy) without extraocular muscles involvement, pure chronic progressive external ophthalmoplegia (PEO) and PEO&MiMy. As 6MWT is recognized to have significant test–retest variability, we calculated MCID (minimal clinically important difference) as one third of baseline 6 min walking distance (6MWD) standard deviation. RESULTS: At 12-month follow-up, 3TUG, 5XSST and FSS were stable, while TWST and the perceived pain severity (WHYMPI) worsened. 6MWD significantly increased in the entire cohort, especially in the higher percentiles and in PEO patients, while was substantially stable in the lower percentile (< 408 m) and MiMy patients. This increase in 6MWD was considered not significant, as inferior to MCID (33.3 m). NMDAS total score showed a slight but significant decline at 12 months (0.9 point). The perceived pain severity significantly worsened. Patients with PEO performed better in functional measures than patients with PEO&MiMy or MiMy, and had lower values of NMDAS. CONCLUSIONS: PMM patients showed a slow global decline valued by NMDAS at 12 months; 6MWT was a more reliable measurement below 408 m, substantially stable at 12 months. PEO patients had better motor performance and lower NMDAS than PEO&MiMy and MiMy also at 12 months of follow-up. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-022-11324-3.
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spelling pubmed-93861972022-08-18 Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort Montano, V. Lopriore, P. Gruosso, F. Carelli, V. Comi, G. P. Filosto, M. Lamperti, C. Mongini, T. Musumeci, O. Servidei, S. Tonin, P. Toscano, A. Primiano, G. Valentino, M. L. Bortolani, S. Marchet, S. Ricci, G. Modenese, A. Cotti Piccinelli, S. Risi, B. Meneri, M. Arena, I. G. Siciliano, G. Mancuso, Michelangelo J Neurol Original Communication OBJECTIVES: To assess natural history and 12-month change of a series of scales and functional outcome measures in a cohort of 117 patients with primary mitochondrial myopathy (PMM). METHODS: Twelve months follow-up data of 117 patients with PMM were collected. We analysed the 6-min walk test (6MWT), timed up-and-go test (× 3) (3TUG), five-times sit-to-stand test (5XSST), timed water swallow test (TWST), and test of masticating and swallowing solids (TOMASS) as functional outcome measures; the Fatigue Severity Scale and West Haven-Yale Multidimensional pain inventory as patient-reported outcome measures. PMM patients were divided into three phenotypic categories: mitochondrial myopathy (MiMy) without extraocular muscles involvement, pure chronic progressive external ophthalmoplegia (PEO) and PEO&MiMy. As 6MWT is recognized to have significant test–retest variability, we calculated MCID (minimal clinically important difference) as one third of baseline 6 min walking distance (6MWD) standard deviation. RESULTS: At 12-month follow-up, 3TUG, 5XSST and FSS were stable, while TWST and the perceived pain severity (WHYMPI) worsened. 6MWD significantly increased in the entire cohort, especially in the higher percentiles and in PEO patients, while was substantially stable in the lower percentile (< 408 m) and MiMy patients. This increase in 6MWD was considered not significant, as inferior to MCID (33.3 m). NMDAS total score showed a slight but significant decline at 12 months (0.9 point). The perceived pain severity significantly worsened. Patients with PEO performed better in functional measures than patients with PEO&MiMy or MiMy, and had lower values of NMDAS. CONCLUSIONS: PMM patients showed a slow global decline valued by NMDAS at 12 months; 6MWT was a more reliable measurement below 408 m, substantially stable at 12 months. PEO patients had better motor performance and lower NMDAS than PEO&MiMy and MiMy also at 12 months of follow-up. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00415-022-11324-3. Springer Berlin Heidelberg 2022-08-18 2022 /pmc/articles/PMC9386197/ /pubmed/35980466 http://dx.doi.org/10.1007/s00415-022-11324-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Communication
Montano, V.
Lopriore, P.
Gruosso, F.
Carelli, V.
Comi, G. P.
Filosto, M.
Lamperti, C.
Mongini, T.
Musumeci, O.
Servidei, S.
Tonin, P.
Toscano, A.
Primiano, G.
Valentino, M. L.
Bortolani, S.
Marchet, S.
Ricci, G.
Modenese, A.
Cotti Piccinelli, S.
Risi, B.
Meneri, M.
Arena, I. G.
Siciliano, G.
Mancuso, Michelangelo
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
title Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
title_full Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
title_fullStr Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
title_full_unstemmed Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
title_short Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
title_sort primary mitochondrial myopathy: 12-month follow-up results of an italian cohort
topic Original Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386197/
https://www.ncbi.nlm.nih.gov/pubmed/35980466
http://dx.doi.org/10.1007/s00415-022-11324-3
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