Autosomal recessive progressive external ophthalmoplegia

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Synonyms: arPEO

A rare genetic neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness muscle atrophy sensory axonal neuropathy ataxia cardiomyopathy and psychiatric symptoms. It is usually more severe than autosomal dominant form.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Autosomal recessive progressive external ophthalmoplegia?

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Advocacy Organizations

United Mitochondrial Disease Foundation (UMDF)

Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.

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Clinical Trials

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