Progressive external ophthalmoplegia, autosomal dominant, 3
PEO autosomal dominant 3

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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. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).

Prevalence of clinical parameters (%)

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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
Ophthalmoplegia nervous 100 % 17620490 2011-10-11
Ptosis nervous 97 % 20479361 2011-10-11
Ophthalmoplegia nervous 94 % 20479361 2011-10-19
Tremor nervous 60 % 17620490 2011-10-10
Parkinsonism nervous 60 % 17620490 2011-10-10
Fatigue skeletal 52 % 20479361 2011-10-05
Cox-negative muscle fibers skeletal 40 % 17620490 2011-10-05
Muscle weakness skeletal 33 % 20479361 2011-10-11
Cardiomyopathy circulatory 24 % 20479361 2011-10-11
Psychiatric symptom nervous 20 % 17620490 2011-10-10
Neuropathy nervous 20 % 17620490 2011-10-10
Dysphagia nervous 12 % 20479361 2011-10-11
Headache nervous 9 % 20479361 2011-10-11
Hearing loss nervous 9 % 20479361 2011-10-11
Cataract nervous 9 % 20479361 2011-10-11

List of references:

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Robert H Baloh, Ezequiel Salavaggione, Jeffrey Milbrandt, Alan Pestronk,

To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation.

Archives of neurology - Jul 2007

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
C Fratter, G S Gorman, J D Stewart, M Buddles, C Smith, J Evans, A Seller, J Poulton, M Roberts, M G Hanna, S Rahman, S E Omer, T Klopstock, B Schoser, C Kornblum, B Czermin, B Lecky, E L Blakely, K Craig, P F Chinnery, D M Turnbull, R Horvath, R W Taylor,

Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease.

Neurology - May 2010