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Mitochondrial myopathy, isolated

MedGen UID:
865043
•Concept ID:
C4016606
•
Finding
Synonym: MITOCHONDRIAL MYOPATHY, ISOLATED
 
OMIM®: 590015

Professional guidelines

PubMed

Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Santa KM
Pharmacotherapy 2010 Nov;30(11):1179-96. doi: 10.1592/phco.30.11.1179. PMID: 20973690
Current options in the treatment of mitochondrial diseases.
Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M
Recent Pat CNS Drug Discov 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. PMID: 20722626
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.
Scaglia F, Northrop JL
CNS Drugs 2006;20(6):443-64. doi: 10.2165/00023210-200620060-00002. PMID: 16734497

Recent clinical studies

Etiology

Long term follow-up in two siblings with Sengers syndrome: Case report.
Panicucci C, Schiaffino MC, Nesti C, Derchi M, Trocchio G, Severino M, Stagnaro N, Priolo E, Zara F, Santorelli FM, Bruno C
Ital J Pediatr 2022 Oct 17;48(1):180. doi: 10.1186/s13052-022-01370-y. PMID: 36253788Free PMC Article
Mitochondrial cytopathies and the kidney.
Emma F, Salviati L
Nephrol Ther 2017 Apr;13 Suppl 1:S23-S28. doi: 10.1016/j.nephro.2017.01.014. PMID: 28577739
Primary and secondary CoQ(10) deficiencies in humans.
Quinzii CM, Hirano M
Biofactors 2011 Sep-Oct;37(5):361-5. Epub 2011 Oct 11 doi: 10.1002/biof.155. PMID: 21990098Free PMC Article
Drug-induced myopathies.
Bannwarth B
Expert Opin Drug Saf 2002 May;1(1):65-70. doi: 10.1517/14740338.1.1.65. PMID: 12904161
Mitochondria-related encephalomyopathies.
Goebel HH, Bornemann A, Reichmann H
Neuropathol Appl Neurobiol 1989 Mar-Apr;15(2):97-119. doi: 10.1111/j.1365-2990.1989.tb01214.x. PMID: 2657472

Diagnosis

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
CSF lactate.
Baheerathan A, Pitceathly RD, Curtis C, Davies NW
Pract Neurol 2020 Aug;20(4):320-323. Epub 2020 May 13 doi: 10.1136/practneurol-2019-002191. PMID: 32404406
Progressive External Ophthalmoplegia.
McClelland C, Manousakis G, Lee MS
Curr Neurol Neurosci Rep 2016 Jun;16(6):53. doi: 10.1007/s11910-016-0652-7. PMID: 27072953
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Fibroblast models of neurological disorders: fluorescence measurement studies.
Connolly GP
Trends Pharmacol Sci 1998 May;19(5):171-7. doi: 10.1016/s0165-6147(98)01202-4. PMID: 9652189

Therapy

Fibroblast growth factor 21 controls mitophagy and muscle mass.
Oost LJ, Kustermann M, Armani A, Blaauw B, Romanello V
J Cachexia Sarcopenia Muscle 2019 Jun;10(3):630-642. Epub 2019 Mar 20 doi: 10.1002/jcsm.12409. PMID: 30895728Free PMC Article
Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?
Busch KB, Kowald A, Spelbrink JN
Philos Trans R Soc Lond B Biol Sci 2014 Jul 5;369(1646):20130442. doi: 10.1098/rstb.2013.0442. PMID: 24864312Free PMC Article
Drug-induced myopathies.
Bannwarth B
Expert Opin Drug Saf 2002 May;1(1):65-70. doi: 10.1517/14740338.1.1.65. PMID: 12904161
Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases.
Batocchi AP, Evoli A, Majolini L, Lo Monaco M, Padua L, Ricci E, Dickman A, Tonali P
J Neurol 1997 Oct;244(10):639-45. doi: 10.1007/s004150050160. PMID: 9402541
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
Poulton J, Morten KJ, Weber K, Brown GK, Bindoff L
Hum Mol Genet 1994 Jun;3(6):947-51. doi: 10.1093/hmg/3.6.947. PMID: 7951243

Prognosis

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Long term follow-up in two siblings with Sengers syndrome: Case report.
Panicucci C, Schiaffino MC, Nesti C, Derchi M, Trocchio G, Severino M, Stagnaro N, Priolo E, Zara F, Santorelli FM, Bruno C
Ital J Pediatr 2022 Oct 17;48(1):180. doi: 10.1186/s13052-022-01370-y. PMID: 36253788Free PMC Article
CSF lactate.
Baheerathan A, Pitceathly RD, Curtis C, Davies NW
Pract Neurol 2020 Aug;20(4):320-323. Epub 2020 May 13 doi: 10.1136/practneurol-2019-002191. PMID: 32404406
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Fibroblast models of neurological disorders: fluorescence measurement studies.
Connolly GP
Trends Pharmacol Sci 1998 May;19(5):171-7. doi: 10.1016/s0165-6147(98)01202-4. PMID: 9652189

Clinical prediction guides

Clinico-sero-pathological profiles and risk prediction model of idiopathic inflammatory myopathy (IIM) patients with different perifascicular changes.
Zhang L, Fu L, Zhang G, Hou Y, Ma X, Zhao D, Li W, Dai T, Shu Q, Yan C, Zhao B
CNS Neurosci Ther 2024 Aug;30(8):e14882. doi: 10.1111/cns.14882. PMID: 39097917Free PMC Article
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini E, Favalli V, Narula N, Serio A, Grasso M
J Am Coll Cardiol 2016 Aug 30;68(9):949-66. doi: 10.1016/j.jacc.2016.05.096. PMID: 27561770
Fibroblast models of neurological disorders: fluorescence measurement studies.
Connolly GP
Trends Pharmacol Sci 1998 May;19(5):171-7. doi: 10.1016/s0165-6147(98)01202-4. PMID: 9652189
The heritability of strabismus.
Paul TO, Hardage LK
Ophthalmic Genet 1994 Mar;15(1):1-18. doi: 10.3109/13816819409056905. PMID: 7953247

Recent systematic reviews

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Muscle disorders associated with cyclosporine treatment.
Breil M, Chariot P
Muscle Nerve 1999 Dec;22(12):1631-6. doi: 10.1002/(sici)1097-4598(199912)22:12<1631::aid-mus3>3.0.co;2-v. PMID: 10567074

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