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 Feb 2013

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How do you compare to others with this condition?

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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 Feb 2013

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General Support Organizations

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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 27 free, full-text research articles on human participants. First 3 results:

Paralytic exophthalmos in chronic progressive external ophthalmoplegia.
 

Author(s): Kengo Maeda, Ryo Idehara

Journal: Intern. Med.. 2012 ;51(8):989.

 

Last Updated: 16 Apr 2012

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Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia.
 

Author(s): Bart W Smits, Yvonne F Heijdra, Femke W A Cuppen, Baziel G M van Engelen

Journal: J. Neurol.. 2011 Nov;258(11):2020-5.

 

Chronic progressive external ophthalmoplegia (CPEO) is a relatively common mitochondrial disorder. Weakness of the extra-ocular, limb girdle and laryngeal muscles are established clinical features. Respiratory muscle involvement however has never been studied systematically, even ...

Last Updated: 14 Nov 2011

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Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.
 

Author(s): A Schaller, R Desetty, D Hahn, C B Jackson, J-M Nuoffer, S Gallati, L Levinger

Journal: Mitochondrion. 2011 May;11(3):488-96.

 

We report a sporadic case of chronic progressive external ophthalmoplegia associated with ragged red fibers. The patient presented with enlarged mitochondria with deranged internal architecture and crystalline inclusions. Biochemical studies showed reduced activities of complex I, ...

Last Updated: 12 Apr 2011

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

MRI Study - Chronic Progressive External Ophthalmoplegia
 

Status: Recruiting

Condition Summary: Chronic Progressive External Ophthalmoplegia

 

Last Updated: 11 Jun 2014

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