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Mitochondrial encephalomyopathy

MedGen UID:
57960
•Concept ID:
C0162666
•
Disease or Syndrome
Synonyms: Encephalomyopathies, Mitochondrial; Encephalomyopathy, Mitochondrial; Mitochondrial Encephalomyopathies; Mitochondrial Encephalomyopathy
SNOMED CT: Mitochondrial encephalomyopathy (447292006); Mitochondrial myoencephalopathy (447292006)
 
Monarch Initiative: MONDO:0004675
OMIM®: 516020; 590005; 590050; 590055; 590095

Definition

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) [from MONDO]

Professional guidelines

PubMed

Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.
Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A
Genes (Basel) 2020 Dec 31;12(1) doi: 10.3390/genes12010054. PMID: 33396418Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523

Recent clinical studies

Etiology

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation.
Crundwell G, Kullar P, Bance M
J Int Adv Otol 2022 Jan;18(1):71-73. doi: 10.5152/iao.2022.21316. PMID: 35193849Free PMC Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Mitochondrial syndromes with leukoencephalopathies.
Wong LJ
Semin Neurol 2012 Feb;32(1):55-61. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306387. PMID: 22422207

Diagnosis

Mitochondrial encephalomyopathy.
Ng YS, McFarland R
Handb Clin Neurol 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X. PMID: 37562887
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.
Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Therapy

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK
J Clin Invest 2021 Jan 19;131(2) doi: 10.1172/JCI136055. PMID: 33463549Free PMC Article
Therapeutic Potential of Citrulline as an Arginine Supplement: A Clinical Pharmacology Review.
Rashid J, Kumar SS, Job KM, Liu X, Fike CD, Sherwin CMT
Paediatr Drugs 2020 Jun;22(3):279-293. doi: 10.1007/s40272-020-00384-5. PMID: 32140997Free PMC Article
Mitochondrial disease in adults: what's old and what's new?
Chinnery PF
EMBO Mol Med 2015 Dec;7(12):1503-12. doi: 10.15252/emmm.201505079. PMID: 26612854Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Prognosis

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.
Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C, Ji K
J Neurol 2024 Feb;271(2):864-876. Epub 2023 Oct 17 doi: 10.1007/s00415-023-12005-5. PMID: 37847292
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Mitochondrial disease and epilepsy.
Rahman S
Dev Med Child Neurol 2012 May;54(5):397-406. Epub 2012 Jan 28 doi: 10.1111/j.1469-8749.2011.04214.x. PMID: 22283595

Clinical prediction guides

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.
Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C, Ji K
J Neurol 2024 Feb;271(2):864-876. Epub 2023 Oct 17 doi: 10.1007/s00415-023-12005-5. PMID: 37847292
Clinical features of epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
Yang X, Sun A, Ji K, Wang X, Yang X, Zhao X
Seizure 2023 Mar;106:110-116. Epub 2023 Feb 18 doi: 10.1016/j.seizure.2023.02.014. PMID: 36827862
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Recent systematic reviews

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
He P, Wang Q, Hong X, Yuan H
Am J Med Genet A 2023 Jan;191(1):70-76. Epub 2022 Oct 11 doi: 10.1002/ajmg.a.62988. PMID: 36218002
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S, Erfanian Omidvar M, Tabasinezhad M, Alipoor B, Salmani TA, Ghaedi H
Mol Biol Rep 2020 Dec;47(12):9699-9714. Epub 2020 Nov 23 doi: 10.1007/s11033-020-05999-y. PMID: 33230783

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