U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Progressive external ophthalmoplegia with myoclonus

MedGen UID:
865059
•Concept ID:
C4016622
•
Finding
Synonym: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
 
OMIM®: 590060

Professional guidelines

PubMed

Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins S
Intern Med J 2004 Jan-Feb;34(1-2):10-9. doi: 10.1111/j.1444-0903.2004.t01-3-.x. PMID: 14748908

Recent clinical studies

Etiology

Migraine in mitochondrial disorders: Prevalence and characteristics.
Vollono C, Primiano G, Della Marca G, Losurdo A, Servidei S
Cephalalgia 2018 May;38(6):1093-1106. Epub 2017 Aug 1 doi: 10.1177/0333102417723568. PMID: 28762753
Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.
Sekino Y, Inamori M, Yamada E, Ohkubo H, Sakai E, Higurashi T, Iida H, Hosono K, Endo H, Nonaka T, Takahashi H, Koide T, Abe Y, Gotoh E, Koyano S, Kuroiwa Y, Maeda S, Nakajima A
World J Gastroenterol 2012 Sep 7;18(33):4557-62. doi: 10.3748/wjg.v18.i33.4557. PMID: 22969229Free PMC Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.
Jackson MJ, Schaefer JA, Johnson MA, Morris AA, Turnbull DM, Bindoff LA
Brain 1995 Apr;118 ( Pt 2):339-57. doi: 10.1093/brain/118.2.339. PMID: 7735877
EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases.
Tulinius MH, Hagne I
Brain Dev 1991 May;13(3):167-73. doi: 10.1016/s0387-7604(12)80024-6. PMID: 1928609

Diagnosis

Migraine in mitochondrial disorders: Prevalence and characteristics.
Vollono C, Primiano G, Della Marca G, Losurdo A, Servidei S
Cephalalgia 2018 May;38(6):1093-1106. Epub 2017 Aug 1 doi: 10.1177/0333102417723568. PMID: 28762753
Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.
Sekino Y, Inamori M, Yamada E, Ohkubo H, Sakai E, Higurashi T, Iida H, Hosono K, Endo H, Nonaka T, Takahashi H, Koide T, Abe Y, Gotoh E, Koyano S, Kuroiwa Y, Maeda S, Nakajima A
World J Gastroenterol 2012 Sep 7;18(33):4557-62. doi: 10.3748/wjg.v18.i33.4557. PMID: 22969229Free PMC Article
Cognitive dysfunction in mitochondrial disorders.
Finsterer J
Acta Neurol Scand 2012 Jul;126(1):1-11. Epub 2012 Feb 15 doi: 10.1111/j.1600-0404.2012.01649.x. PMID: 22335339
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article
Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers.
Challa S, Kanikannan MA, Murthy JM, Bhoompally VR, Surath M
Neurol India 2004 Sep;52(3):353-8. PMID: 15472426

Therapy

Chloral hydrate for progressive myoclonus epilepsy: a new look at an old drug.
Pranzatelli MR, Tate ED
Pediatr Neurol 2001 Nov;25(5):385-9. doi: 10.1016/s0887-8994(01)00350-2. PMID: 11744313
Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study.
Chen RS, Huang CC, Chu NS
Eur Neurol 1997;37(4):212-8. doi: 10.1159/000117445. PMID: 9208260

Prognosis

Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.
Sekino Y, Inamori M, Yamada E, Ohkubo H, Sakai E, Higurashi T, Iida H, Hosono K, Endo H, Nonaka T, Takahashi H, Koide T, Abe Y, Gotoh E, Koyano S, Kuroiwa Y, Maeda S, Nakajima A
World J Gastroenterol 2012 Sep 7;18(33):4557-62. doi: 10.3748/wjg.v18.i33.4557. PMID: 22969229Free PMC Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article
Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study.
Chen RS, Huang CC, Chu NS
Eur Neurol 1997;37(4):212-8. doi: 10.1159/000117445. PMID: 9208260
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE
Brain 1993 Jun;116 ( Pt 3):617-32. doi: 10.1093/brain/116.3.617. PMID: 8513395
Mitochondrial disorders: analysis of their clinical and imaging characteristics.
Barkovich AJ, Good WV, Koch TK, Berg BO
AJNR Am J Neuroradiol 1993 Sep-Oct;14(5):1119-37. PMID: 8237691Free PMC Article

Clinical prediction guides

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article
Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study.
Chen RS, Huang CC, Chu NS
Eur Neurol 1997;37(4):212-8. doi: 10.1159/000117445. PMID: 9208260
Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E
Aust N Z J Med 1994 Apr;24(2):188-93. doi: 10.1111/j.1445-5994.1994.tb00556.x. PMID: 8042948
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE
Brain 1993 Jun;116 ( Pt 3):617-32. doi: 10.1093/brain/116.3.617. PMID: 8513395

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...