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Autosomal dominant progressive external ophthalmoplegia

MedGen UID:
1686757
Concept ID:
C5231255
Disease or Syndrome
Synonyms: adPEO; adPEO - autosomal dominant progressive external ophthalmoplegia; autosomal dominant progressive external ophthalmoplegia; PEOA1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1; progressive external ophthalmoplegia, autosomal dominant
SNOMED CT: Autosomal dominant progressive external ophthalmoplegia (827115000); adPEO - autosomal dominant progressive external ophthalmoplegia (827115000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related gene: POLG
 
Monarch Initiative: MONDO:0008003
Orphanet: ORPHA254892

Definition

A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Lima L, Coutinho P
Neurology 1980 Mar;30(3):319-22. doi: 10.1212/wnl.30.3.319. PMID: 7189034

Recent clinical studies

Etiology

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
Martí R, Nishigaki Y, Vilá MR, Hirano M
Clin Chem Lab Med 2003 Jul;41(7):845-51. doi: 10.1515/CCLM.2003.128. PMID: 12940507
Suomalainen A, Kaukonen J
Am J Med Genet 2001 Spring;106(1):53-61. doi: 10.1002/ajmg.1379. PMID: 11579425
Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF
Neurology 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. PMID: 9443465
Melberg A, Arnell H, Dahl N, Stålberg E, Raininko R, Oldfors A, Bakall B, Lundberg PO, Holme E
Muscle Nerve 1996 Dec;19(12):1561-9. doi: 10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUS5>3.0.CO;2-8. PMID: 8941270

Diagnosis

Rahman S, Copeland WC
Nat Rev Neurol 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. PMID: 30451971Free PMC Article
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
Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C
Neurology 1999 Oct 12;53(6):1265-71. doi: 10.1212/wnl.53.6.1265. PMID: 10522883
Kerrison JB, Maumenee IH
Curr Opin Ophthalmol 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. PMID: 10176101
Melberg A, Arnell H, Dahl N, Stålberg E, Raininko R, Oldfors A, Bakall B, Lundberg PO, Holme E
Muscle Nerve 1996 Dec;19(12):1561-9. doi: 10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUS5>3.0.CO;2-8. PMID: 8941270

Therapy

Moslemi AR, Melberg A, Holme E, Oldfors A
Neurology 1999 Jul 13;53(1):79-84. doi: 10.1212/wnl.53.1.79. PMID: 10408540
Melberg A, Holme E, Oldfors A, Lundberg PO
Neurology 1998 Jan;50(1):299-300. doi: 10.1212/wnl.50.1.299. PMID: 9443501
Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M
Am J Hum Genet 1996 Apr;58(4):763-9. PMID: 8644740Free PMC Article

Prognosis

Bohlega S, Van Goethem G, Al Semari A, Löfgren A, Al Hamed M, Van Broeckhoven C, Kambouris M
Neuromuscul Disord 2009 Dec;19(12):845-8. Epub 2009 Oct 22 doi: 10.1016/j.nmd.2009.10.002. PMID: 19853444
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
Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF
Arch Neurol 2007 Apr;64(4):553-7. doi: 10.1001/archneur.64.4.553. PMID: 17420318
Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC
Nat Struct Mol Biol 2004 Aug;11(8):770-6. Epub 2004 Jul 18 doi: 10.1038/nsmb805. PMID: 15258572
Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J
J Neurol Neurosurg Psychiatry 2004 Aug;75(8):1125-8. doi: 10.1136/jnnp.2003.025890. PMID: 15258213Free PMC Article

Clinical prediction guides

Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A
Doc Ophthalmol 2021 Feb;142(1):111-118. Epub 2020 Jun 21 doi: 10.1007/s10633-020-09777-w. PMID: 32567010
Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A
Eur J Neurol 2011 Mar;18(3):436-41. Epub 2010 Sep 29 doi: 10.1111/j.1468-1331.2010.03171.x. PMID: 20880070
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
Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C
Neurology 1999 Oct 12;53(6):1265-71. doi: 10.1212/wnl.53.6.1265. PMID: 10522883
Melberg A, Arnell H, Dahl N, Stålberg E, Raininko R, Oldfors A, Bakall B, Lundberg PO, Holme E
Muscle Nerve 1996 Dec;19(12):1561-9. doi: 10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUS5>3.0.CO;2-8. PMID: 8941270

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