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Myopathy, mitochondrial, late-onset

MedGen UID:
865060
•Concept ID:
C4016623
•
Finding
Synonym: MYOPATHY, MITOCHONDRIAL, LATE-ONSET
 
OMIM®: 590070

Professional guidelines

PubMed

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V
J Genet Couns 2015 Oct;24(5):842-50. Epub 2015 Feb 26 doi: 10.1007/s10897-015-9819-7. PMID: 25716352Free PMC Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Faivre L, Cormier-Daire V, Chrétien D, Christoph von Kleist-Retzow J, Amiel J, Dommergues M, Saudubray JM, Dumez Y, Rötig A, Rustin P, Munnich A
Prenat Diagn 2000 Sep;20(9):732-7. doi: 10.1002/1097-0223(200009)20:9<732::aid-pd916>3.0.co;2-#. PMID: 11015702

Recent clinical studies

Etiology

Late-onset primary muscle diseases mimicking sarcopenia.
Yamashita S
Geriatr Gerontol Int 2024 Nov;24(11):1099-1110. Epub 2024 Oct 14 doi: 10.1111/ggi.15000. PMID: 39402847
Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining.
Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L, Sun Y, Zhang Y, Yan Y, Lu JQ, Liu F, Yan C
Neurol Neuroimmunol Neuroinflamm 2022 Jul;9(4) Epub 2022 May 17 doi: 10.1212/NXI.0000000000001184. PMID: 35581006Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
MtDNA-maintenance defects: syndromes and genes.
Viscomi C, Zeviani M
J Inherit Metab Dis 2017 Jul;40(4):587-599. Epub 2017 Mar 21 doi: 10.1007/s10545-017-0027-5. PMID: 28324239Free PMC Article
Late-onset mitochondrial myopathy.
Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA
Ann Neurol 1995 Jan;37(1):16-23. doi: 10.1002/ana.410370106. PMID: 7818252

Diagnosis

Late-onset primary muscle diseases mimicking sarcopenia.
Yamashita S
Geriatr Gerontol Int 2024 Nov;24(11):1099-1110. Epub 2024 Oct 14 doi: 10.1111/ggi.15000. PMID: 39402847
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Other Myopathies.
Hussain Y, Miller S
Neurol Clin 2020 Aug;38(3):619-635. doi: 10.1016/j.ncl.2020.04.002. PMID: 32703473
Lipid storage myopathies.
Bruno C, Dimauro S
Curr Opin Neurol 2008 Oct;21(5):601-6. doi: 10.1097/WCO.0b013e32830dd5a6. PMID: 18769256
Late-onset mitochondrial myopathy.
Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA
Ann Neurol 1995 Jan;37(1):16-23. doi: 10.1002/ana.410370106. PMID: 7818252

Therapy

Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.
Rao NN, Burns K, Manolikos C, Hodge S
BMJ Case Rep 2023 May 22;16(5) doi: 10.1136/bcr-2022-252668. PMID: 37217231Free PMC Article
Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining.
Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L, Sun Y, Zhang Y, Yan Y, Lu JQ, Liu F, Yan C
Neurol Neuroimmunol Neuroinflamm 2022 Jul;9(4) Epub 2022 May 17 doi: 10.1212/NXI.0000000000001184. PMID: 35581006Free PMC Article
Late-onset presentation of POLG1-associated mitochondrial disease.
Meira B, Roque R, Pinto M, Caetano A
BMJ Case Rep 2019 Mar 31;12(3) doi: 10.1136/bcr-2018-228482. PMID: 30936349Free PMC Article
Sporadic Inclusion Body Myositis: An Acquired Mitochondrial Disease with Extras.
De Paepe B
Biomolecules 2019 Jan 7;9(1) doi: 10.3390/biom9010015. PMID: 30621041Free PMC Article
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).
Lee HN, Eom S, Kim SH, Kang HC, Lee JS, Kim HD, Lee YM
Pediatr Neurol 2016 Nov;64:59-65. Epub 2016 Aug 26 doi: 10.1016/j.pediatrneurol.2016.08.016. PMID: 27671241

Prognosis

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Domínguez-González C, Fernández-Torrón R, Moore U, de Fuenmayor-Fernández de la Hoz CP, Vélez-Gómez B, Cabezas JA, Alonso-Pérez J, González-Mera L, Olivé M, García-García J, Moris G, León Hernández JC, Muelas N, Servian-Morilla E, Martin MA, Díaz-Manera J, Paradas C
J Neurol 2022 Jul;269(7):3550-3562. Epub 2022 Mar 14 doi: 10.1007/s00415-021-10957-0. PMID: 35286480Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Myopathies presenting with head drop: Clinical spectrum and treatment outcomes.
Alhammad RM, Naddaf E
Neuromuscul Disord 2020 Feb;30(2):128-136. Epub 2019 Dec 12 doi: 10.1016/j.nmd.2019.12.001. PMID: 32005492
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C
Orphanet J Rare Dis 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z. PMID: 31060578Free PMC Article
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M
J Med Genet 2018 Aug;55(8):515-521. Epub 2018 Mar 30 doi: 10.1136/jmedgenet-2017-105012. PMID: 29602790Free PMC Article

Clinical prediction guides

Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M
J Med Genet 2018 Aug;55(8):515-521. Epub 2018 Mar 30 doi: 10.1136/jmedgenet-2017-105012. PMID: 29602790Free PMC Article
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).
Lee HN, Eom S, Kim SH, Kang HC, Lee JS, Kim HD, Lee YM
Pediatr Neurol 2016 Nov;64:59-65. Epub 2016 Aug 26 doi: 10.1016/j.pediatrneurol.2016.08.016. PMID: 27671241
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L, Wiche G
Acta Neuropathol 2013 Jan;125(1):77-93. Epub 2012 Aug 3 doi: 10.1007/s00401-012-1026-0. PMID: 22864774
Late-onset mitochondrial myopathy.
Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA
Ann Neurol 1995 Jan;37(1):16-23. doi: 10.1002/ana.410370106. PMID: 7818252
Diseases resulting from mitochondrial DNA point mutations.
Wallace DC, Lott MT, Shoffner JM, Brown MD
J Inherit Metab Dis 1992;15(4):472-9. doi: 10.1007/BF01799605. PMID: 1528007

Recent systematic reviews

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J
J Clin Neuromuscul Dis 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. PMID: 36809201

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