PMID- 35980466 OWN - NLM STAT- MEDLINE DCOM- 20221101 LR - 20221101 IS - 1432-1459 (Electronic) IS - 0340-5354 (Print) IS - 0340-5354 (Linking) VI - 269 IP - 12 DP - 2022 Dec TI - Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort. PG - 6555-6565 LID - 10.1007/s00415-022-11324-3 [doi] AB - 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 (x 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. CI - (c) 2022. The Author(s). FAU - Montano, V AU - Montano V AD - Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. FAU - Lopriore, P AU - Lopriore P AD - Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. FAU - Gruosso, F AU - Gruosso F AD - Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. FAU - Carelli, V AU - Carelli V AD - IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy. AD - Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. FAU - Comi, G P AU - Comi GP AD - Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Milan, Italy. AD - Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy. FAU - Filosto, M AU - Filosto M AD - Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy. FAU - Lamperti, C AU - Lamperti C AD - UO Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C.Besta, Milan, Italy. FAU - Mongini, T AU - Mongini T AD - Neuromuscular Unit, Department of Neurosciences, University of Torino, Turin, Italy. FAU - Musumeci, O AU - Musumeci O AD - Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy. FAU - Servidei, S AU - Servidei S AD - Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. AD - Dipartimento Universitario di Neuroscienze, Universita Cattolica del Sacro Cuore, Rome, Italy. FAU - Tonin, P AU - Tonin P AD - Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy. FAU - Toscano, A AU - Toscano A AD - Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy. FAU - Primiano, G AU - Primiano G AD - Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. AD - Dipartimento Universitario di Neuroscienze, Universita Cattolica del Sacro Cuore, Rome, Italy. FAU - Valentino, M L AU - Valentino ML AD - IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy. AD - Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. FAU - Bortolani, S AU - Bortolani S AD - Neuromuscular Unit, Department of Neurosciences, University of Torino, Turin, Italy. FAU - Marchet, S AU - Marchet S AD - UO Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C.Besta, Milan, Italy. FAU - Ricci, G AU - Ricci G AD - Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. FAU - Modenese, A AU - Modenese A AD - Neurorehabilitation Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. FAU - Cotti Piccinelli, S AU - Cotti Piccinelli S AD - Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy. FAU - Risi, B AU - Risi B AD - Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy. FAU - Meneri, M AU - Meneri M AD - Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Milan, Italy. AD - Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy. FAU - Arena, I G AU - Arena IG AD - Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy. FAU - Siciliano, G AU - Siciliano G AD - Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. FAU - Mancuso, Michelangelo AU - Mancuso M AUID- ORCID: 0000-0003-2738-8562 AD - Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. michelangelo.mancuso@unipi.it. LA - eng GR - GSP16001/Fondazione Telethon/ GR - GUP09004/Fondazione Telethon/ GR - GENOMIT/EJPRD/ GR - RF-2016-02361495/Ministero della Salute/ PT - Journal Article DEP - 20220818 PL - Germany TA - J Neurol JT - Journal of neurology JID - 0423161 SB - IM MH - Humans MH - Follow-Up Studies MH - Walk Test/methods MH - *Mitochondrial Myopathies/complications/diagnosis MH - *Ophthalmoplegia, Chronic Progressive External MH - Time Factors MH - Walking PMC - PMC9386197 OTO - NOTNLM OT - 6MWT OT - Fatigue OT - Mitochondrial disorders OT - Outcome measures OT - Pain OT - Primary mitochondrial myopathy COIS- The authors report no disclosures relevant to the manuscript. EDAT- 2022/08/19 06:00 MHDA- 2022/11/02 06:00 PMCR- 2022/08/18 CRDT- 2022/08/18 11:15 PHST- 2022/06/08 00:00 [received] PHST- 2022/08/03 00:00 [accepted] PHST- 2022/08/03 00:00 [revised] PHST- 2022/08/19 06:00 [pubmed] PHST- 2022/11/02 06:00 [medline] PHST- 2022/08/18 11:15 [entrez] PHST- 2022/08/18 00:00 [pmc-release] AID - 10.1007/s00415-022-11324-3 [pii] AID - 11324 [pii] AID - 10.1007/s00415-022-11324-3 [doi] PST - ppublish SO - J Neurol. 2022 Dec;269(12):6555-6565. doi: 10.1007/s00415-022-11324-3. Epub 2022 Aug 18.