Chronic Progressive External Ophthalmoplegia

Common Name(s)

Chronic Progressive External Ophthalmoplegia, CPEO

Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual.

CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chronic Progressive External Ophthalmoplegia" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chronic Progressive External Ophthalmoplegia" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chronic Progressive External Ophthalmoplegia" returned 30 free, full-text research articles on human participants. First 3 results:

Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia.
 

Author(s): Chia-Chieh Hsiao, Ni-Chung Lee, Pei-Hsin Huang, Tzu-Hsun Tsai

Journal: J. Formos. Med. Assoc.. 2016 Nov;115(11):1012-1014.

 

Last Updated: 29 Jul 2016

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Chronic progressive external ophthalmoplegia with inflammatory myopathy.
 

Author(s): Ting Chen, Chuanqiang Pu, Qiang Shi, Qian Wang, Lu Cong, Jiexiao Liu, Hongyu Luo, Lingna Fei, Wei Tang, Shanshan Yu

Journal:

 

Chronic progressive external ophthalmoplegia is one of mitochondrial disorders, characterized by ptosis, limitation of eye movement, variably severe bulbar muscle weakness and proximal limb weakness. Chronic progressive external ophthalmoplegia complicated with acquired disease is ...

Last Updated: 12 Feb 2015

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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
 

Author(s): Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L Murphy, Charlotte L Alston, Angela Pyle, Jon Coxhead, Brendan Payne, George H Gorrie, Cheryl Longman, Marios Hadjivassiliou, John McConville, David Dick, Ibrahim Imam, David Hilton, Fiona Norwood, Mark R Baker, Stephan R Jaiser, Patrick Yu-Wai-Man, Michael Farrell, Allan McCarthy, Timothy Lynch, Robert McFarland, Andrew M Schaefer, Douglass M Turnbull, Rita Horvath, Robert W Taylor, Patrick F Chinnery

Journal: Brain. 2014 May;137(Pt 5):1323-36.

 

Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated ...

Last Updated: 28 Apr 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chronic Progressive External Ophthalmoplegia" returned 1 free, full-text review articles on human participants. First 3 results:

[Chronic progressive external ophthalmoplegia: clinical and electromyographic manifestations in a series of cases].
 

Author(s): P E Jiménez-Caballero, M Serviá, C I Cabeza, C Marsal-Alonso, A Alvarez-Tejerina

Journal: Rev Neurol. ;43(12):724-8.

 

Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. The different conditions in this group of diseases overlap clinically, enzymatically and genetically. There is no effective treatment. Ptosis improves with corrective surgery involving tarsorrhaphy ...

Last Updated: 12 Dec 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 21 Aug 2017

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