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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

MedGen UID:: 1393682
•Concept ID:: C4511138
•: Disease or Syndrome

Synonyms:	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy; Adult-onset CPEO with mitochondrial myopathy; adult-onset CPEO with mitochondrial myopathy
SNOMED CT:	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (725464001); Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy (725464001)
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. Mitochondrial inheritance MedGen UID: 165802 •Concept ID: C0887941 • Genetic Function Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). Autosomal dominant inheritance (Orphanet) Mitochondrial inheritance (Orphanet)

Monarch Initiative:	MONDO:0018002
Orphanet:	ORPHA329336

Definition

A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAdult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Abnormality of the musculoskeletal system
- Abnormality of the musculature
  - Abnormal skeletal muscle morphology
    - Myopathy
      - Congenital structural myopathy
        Inborn mitochondrial myopathy
        Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Recent clinical studies

Etiology

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Heighton JN, Brady LI, Newman MC, Tarnopolsky MA
Mitochondrion 2019 Jan;44:15-19. Epub 2017 Dec 12 doi: 10.1016/j.mito.2017.12.006. PMID: 29246868

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R
Brain 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. PMID: 23250882 Free PMC Article

Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.

Pfeffer G, Mezei MM
Muscle Nerve 2012 Oct;46(4):593-6. doi: 10.1002/mus.23538. PMID: 22987704

Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.

Pfeffer G, Sirrs S, Wade NK, Mezei MM
Can J Neurol Sci 2011 Jan;38(1):119-23. doi: 10.1017/s031716710001115x. PMID: 21156440

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP
J Neurol 2008 Sep;255(9):1384-91. Epub 2008 Jun 30 doi: 10.1007/s00415-008-0926-3. PMID: 18575922

See all (6)

Diagnosis

Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.

Bharathidasan K, Evans A, Fernandez FMAO, Motes AT, Nugent K
J Prim Care Community Health 2023 Jan-Dec;14:21501319231172697. doi: 10.1177/21501319231172697. PMID: 37162197 Free PMC Article

Mitochondrial depletion syndromes in children and adults.

Finsterer J, Ahting U
Can J Neurol Sci 2013 Sep;40(5):635-44. doi: 10.1017/s0317167100014852. PMID: 23968935

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.

Pfeffer G, Mezei MM
Muscle Nerve 2012 Oct;46(4):593-6. doi: 10.1002/mus.23538. PMID: 22987704

Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.

Pfeffer G, Sirrs S, Wade NK, Mezei MM
Can J Neurol Sci 2011 Jan;38(1):119-23. doi: 10.1017/s031716710001115x. PMID: 21156440

See all (7)

Therapy

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Heighton JN, Brady LI, Newman MC, Tarnopolsky MA
Mitochondrion 2019 Jan;44:15-19. Epub 2017 Dec 12 doi: 10.1016/j.mito.2017.12.006. PMID: 29246868

See all (1)

Prognosis

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

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

See all (1)

Clinical prediction guides

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M
Am J Hum Genet 2015 Jul 2;97(1):186-93. Epub 2015 Jun 18 doi: 10.1016/j.ajhg.2015.05.013. PMID: 26094573 Free PMC Article

Factors affecting eyelid crease formation before and after silicone frontalis suspension for adult-onset myogenic ptosis.

Allen RC, Hong ES, Zimmerman MB, Morrison LA, Nerad JA, Carter KD
Ophthalmic Plast Reconstr Surg 2015 May-Jun;31(3):227-32. doi: 10.1097/IOP.0000000000000272. PMID: 25198392

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

Roos S, Macao B, Fusté JM, Lindberg C, Jemt E, Holme E, Moslemi AR, Oldfors A, Falkenberg M
Hum Mol Genet 2013 Jun 15;22(12):2411-22. Epub 2013 Feb 27 doi: 10.1093/hmg/ddt094. PMID: 23446635

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

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

Mitochondrial DNA mutations in diseases of energy metabolism.

Wallace DC
J Bioenerg Biomembr 1994 Jun;26(3):241-50. doi: 10.1007/BF00763096. PMID: 8077179

See all (6)

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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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Reviews

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