Kearns-Sayre syndrome
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| Kearns-Sayre syndrome Classification and external resources | |
| ICD-10 | H49.8 |
|---|---|
| ICD-9 | 277.87 |
| OMIM | 530000 |
| DiseasesDB | 7137 |
| eMedicine | ped/2763 |
| MeSH | D007625 |
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Kearns-Sayre syndrome (abbreviated KSS) is a disease caused by a 5,000 base deletion in the mitochondrial DNA. As such, it is a rare genetic disease in that it can be heteroplasmic, that is, more than one genome can be in a cell at any given time. As with all mitochondrial diseases, it can only be maternally inherited.
Kearnes-Sayre syndrome starts before the age of 20.
Presentation
Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration, specifically retinitis pigmentosa, common features.
Other characteristic features of are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects.
Prognosis
There is no treatment for Kearnes-Sayre syndrome as of now. In general, only palliative medications are available to sufferers in order to help relieve the symptoms of the disease.
Eponym
It is named for Thomas Kearns and George Sayre.[1][1]
References
External links
Mitochondrial diseases | |
|---|---|
| Myopathies | MELAS - MERRF - KSS - PEO |
| Other | DAD - Friedreich's ataxia - LHON - Leigh's - NARP - MNGIE - PCD - PDHA - Pearson syndrome |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
