Kearns-Sayre syndrome
From Wikipedia, the free encyclopedia
| ICD-10 | H49.8 |
|---|---|
| ICD-9 | 277.87 |
| OMIM | 530000 |
| eMedicine | ped/2763 |
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. Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration common features.
Other characteristic features of are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects.
There is no treatment for Kearnes-Sayre syndrome as of now. Generally, there are supportive treatments to relieve the symptoms.
[edit] External links
 |
This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
