Progressive external ophthalmoplegia, autosomal dominant 1
PEO autosomal dominant 1

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Description from OMIM

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA 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. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions See also PEOA2 (609283), caused by mutation in the ANT1 gene (SLC25A4; 103220) on chromosome 4q34; PEOA3 (609286), caused by mutation in the twinkle gene (C10ORF2; 606075) on chromosome 10q24; PEOA4 (610131), caused by mutation in the POLG2 gene (604983) on chromosome 17q; PEOA5 (613077), caused by mutation in the RRM2B gene (604712) on chromosome 8q23; and PEOA6 (615156), caused by mutation in the DNA2 gene (601810) on chromosome 10q.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypogonadism endocrine 100 % 15351195 2014-04-28
Ptosis nervous 96 % 15351195 2014-04-28
Ophthalmoplegia nervous 90 % 15351195 2014-04-28
Muscle weakness skeletal 85 % 15351195 2014-04-28
Areflexia nervous 78 % 15351195 2014-04-28
Bradykinesia nervous 68 % 15351195 2014-04-28
Neuropathy nervous 68 % 15351195 2014-04-28
Tremor nervous 65 % 15351195 2014-04-28
Rigidity nervous 63 % 15351195 2014-04-28
Cataract nervous 55 % 15351195 2014-04-28
Ataxia nervous 20 % 15351195 2014-04-28
Depression nervous 10 % 15351195 2014-04-28
Hearing loss nervous 10 % 15351195 2014-04-28
Dementia nervous 5 % 15351195 2014-04-28
Mental retardation nervous 5 % 15351195 2014-04-28
Retinitis pigmentosa nervous 5 % 15351195 2014-04-28
Rheumatoid arthritis skeletal 5 % 15351195 2014-04-28
Heart failure circulatory 5 % 15351195 2014-04-28
Hypothyroidism endocrine 5 % 15351195 2014-04-28

List of references:

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Petri Luoma, Atle Melberg, Juha O Rinne, Jyrki A Kaukonen, Nina N Nupponen, Richard M Chalmers, Anders Oldfors, Ilkka Rautakorpi, Leena Peltonen, Kari Majamaa, Hannu Somer, Anu Suomalainen,

Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA. Mitochondrial dysfunction is also suspected to participate in the pathogenesis of Parkinson's disease. However, no primary gene defects affecting mitochondrial proteins causing mendelian transmission of parkinsonism have been characterised. We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives.

Lancet (London, England) -