Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

Josef Finsterer,1 Sinda Zarrouk-Mahjoub2 1Municipal Hospital Rudolfstiftung, Vienna, Austria; 2Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia Objectives: Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into...

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Autores principales:	Finsterer J, Zarrouk-Mahjoub S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	multisystem disease mitochondrial cytopathy multi-organ mitochondriopathy cardiomyopathy encephalomyopathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/a65a2776e129472993cefb9ee89c3090
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spelling	oai:doaj.org-article:a65a2776e129472993cefb9ee89c30902021-12-02T01:17:49ZMitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders1178-2021https://doaj.org/article/a65a2776e129472993cefb9ee89c30902017-10-01T00:00:00Zhttps://www.dovepress.com/mitochondrial-multiorgan-disorder-syndrome-score-generated-from-defini-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Josef Finsterer,1 Sinda Zarrouk-Mahjoub2 1Municipal Hospital Rudolfstiftung, Vienna, Austria; 2Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia Objectives: Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS score to assess the diagnostic probability for an MID.Methods: This is a retrospective evaluation of clinical, biochemical, and genetic investigations of adult patients with definite MIDs. A total of 36 definite MID patients, 19 men and 17 women, aged 29–82 years were included in this study. The diagnosis was based on genetic testing (n=21), on biochemical investigations (n=17), or on both (n=2).Results: The number of organs most frequently affected was 4 ranging from 1 to 9. MIMODS was diagnosed in 97% of patients. The organs most frequently affected were the muscle (97%), central nervous system (CNS; 72%), endocrine glands (69%), heart (58%), intestines (55%), and peripheral nerves (50%). The most frequent CNS abnormalities were leukoencephalopathy, prolonged visually evoked potentials, and atrophy. The most frequent endocrine abnormalities included thyroid dysfunction, short stature, and diabetes. The most frequent cardiac abnormalities included arrhythmias, systolic dysfunction, and hypertrophic cardiomyopathy. The most frequent MIMODS patterns were encephalomyopathy, encephalo-myo-endocrinopathy, and encepalo-myo-endocrino-cardiopathy. The mean ± 2SD MIMODS score was 35.97±27.6 (range =11–71). An MIMODS score >10 was regarded as indicative of an MID.Conclusion: Adult MIDs manifest as MIMODS in the vast majority of the cases. The organs most frequently affected in MIMODS are muscles, CNS, endocrine glands, and heart. An MIMODS score >10 suggests an MID. Keywords: multisystem disease, mitochondrial cytopathy, multiorgan, mitochondriopathy, cardiomyopathy, encephalomyopathyFinsterer JZarrouk-Mahjoub SDove Medical Pressarticlemultisystem diseasemitochondrial cytopathymulti-organmitochondriopathycardiomyopathyencephalomyopathyNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 13, Pp 2569-2579 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	multisystem disease mitochondrial cytopathy multi-organ mitochondriopathy cardiomyopathy encephalomyopathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	multisystem disease mitochondrial cytopathy multi-organ mitochondriopathy cardiomyopathy encephalomyopathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Finsterer J Zarrouk-Mahjoub S Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
description	Josef Finsterer,1 Sinda Zarrouk-Mahjoub2 1Municipal Hospital Rudolfstiftung, Vienna, Austria; 2Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia Objectives: Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study aimed to find which organs and/or tissues are most frequently affected by MIMODS, which are the most frequent abnormalities within an affected organ, whether there are typical MIMODS patterns, and to generate an MIMODS score to assess the diagnostic probability for an MID.Methods: This is a retrospective evaluation of clinical, biochemical, and genetic investigations of adult patients with definite MIDs. A total of 36 definite MID patients, 19 men and 17 women, aged 29–82 years were included in this study. The diagnosis was based on genetic testing (n=21), on biochemical investigations (n=17), or on both (n=2).Results: The number of organs most frequently affected was 4 ranging from 1 to 9. MIMODS was diagnosed in 97% of patients. The organs most frequently affected were the muscle (97%), central nervous system (CNS; 72%), endocrine glands (69%), heart (58%), intestines (55%), and peripheral nerves (50%). The most frequent CNS abnormalities were leukoencephalopathy, prolonged visually evoked potentials, and atrophy. The most frequent endocrine abnormalities included thyroid dysfunction, short stature, and diabetes. The most frequent cardiac abnormalities included arrhythmias, systolic dysfunction, and hypertrophic cardiomyopathy. The most frequent MIMODS patterns were encephalomyopathy, encephalo-myo-endocrinopathy, and encepalo-myo-endocrino-cardiopathy. The mean ± 2SD MIMODS score was 35.97±27.6 (range =11–71). An MIMODS score >10 was regarded as indicative of an MID.Conclusion: Adult MIDs manifest as MIMODS in the vast majority of the cases. The organs most frequently affected in MIMODS are muscles, CNS, endocrine glands, and heart. An MIMODS score >10 suggests an MID. Keywords: multisystem disease, mitochondrial cytopathy, multiorgan, mitochondriopathy, cardiomyopathy, encephalomyopathy
format	article
author	Finsterer J Zarrouk-Mahjoub S
author_facet	Finsterer J Zarrouk-Mahjoub S
author_sort	Finsterer J
title	Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
title_short	Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
title_full	Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
title_fullStr	Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
title_full_unstemmed	Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
title_sort	mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/a65a2776e129472993cefb9ee89c3090
work_keys_str_mv	AT finstererj mitochondrialmultiorgandisordersyndromescoregeneratedfromdefinitemitochondrialdisorders AT zarroukmahjoubs mitochondrialmultiorgandisordersyndromescoregeneratedfromdefinitemitochondrialdisorders
_version_	1718403155851476992

Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

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