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Kearns-Sayre syndrome

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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
Ophthalmoplegia nervous 100 % 17439982 2014-04-29
Retinitis pigmentosa nervous 100 % 17439982 2014-04-29
Ptosis nervous 100 % 17439982 2014-04-29
Cardiac conduction defect circulatory 88 % 17439982 2014-04-29
Muscle weakness skeletal 81 % 17439982 2014-04-29
Hearing loss nervous 56 % 17439982 2014-04-29
Dysphagia nervous 50 % 17439982 2014-04-29
Ataxia nervous 44 % 17439982 2014-04-29
Cardiomyopathy circulatory 25 % 17439982 2014-04-29
Short stature skeletal 25 % 17439982 2014-04-29
Diabetes mellitus endocrine 13 % 17439982 2014-04-29
Tubulopathy urinary 13 % 17439982 2014-04-29

List of references:

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Karine Auré, Hélène Ogier de Baulny, Pascal Laforêt, Claude Jardel, Bruno Eymard, Anne Lombès,

The prognosis of chronic progressive ophthalmoplegia with large-scale mitochondrial DNA (mtDNA) may strikingly vary from mild slowly progressive myopathy to severe multi-organ involvement. Evaluation of the disease course at the beginning of the disease is reputed impossible. To address the existence of predictive prognostic clues of these diseases, we classified 69 patients with chronic progressive ophthalmoplegia and large size mtDNA deletion into two groups according to the presence of manifestations from brain, inner ear or retina. These manifestations were present in 29 patients (CPEO/+N group) and absent in 40 patients (CPEO/-N group). We retrospectively established the clinical history of the patients and characterized their genetic alteration (amount of residual normal mtDNA molecules, site, size and percentage of the mtDNA deletion in 116 DNA samples from muscle, blood, urinary and buccal cells). In both clinical groups, the disease was progressive and heart conduction defects were frequent. We show that the CPEO/+N phenotype segregated with severe prognosis in term of rate of progression, multi-organs involvement and rate of survival. Age at onset appeared a predictive factor. The risk to develop a CPEO/+N phenotype was high when onset was before 9 years of age and low when onset was after 20 years of age. The presence and proportion of the mtDNA deletion in blood was also significantly associated with the CPEO/+N phenotype. This study is the first to establish the natural history of chronic ophthalmoplegia with mtDNA deletion in a large series of patients and to look for parameters potentially predictive of the patients' clinical course.

Brain : a journal of neurology - Jun 2007

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