Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia

Common Name(s)

Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({9:Filosto et al., 2003}; {13:Luoma et al., 2004}). {6:Drachman (1975)} gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' ({5:Drachman, 1968}). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA Deletions See also PEOB2 ({616479}), caused by mutation in the RNASEH1 gene ({604123}) on chromosome 2p25; PEOB3 ({617069}), caused by mutation in the TK2 gene ({188250}) on chromosome 16q21; and PEOB4 ({617070}), caused by mutation in the DGUOK gene ({601465}) on chromosome 2p13.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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