Kearns-Sayre syndrome
From Wikipedia, the free encyclopedia
| Kearns-Sayre syndrome Classification and external resources |
|
| ICD-10 | H49.8 |
|---|---|
| ICD-9 | 277.87 |
| OMIM | 530000 |
| DiseasesDB | 7137 |
| eMedicine | ped/2763 |
| MeSH | D007625 |
Kearns-Sayre syndrome (abbreviated KSS) or oculocraniosomatic syndrome 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. Unlike most mitochondrial diseases, it is not maternally inherited. Rather, it occurs sporadically.
Kearnes-Sayre syndrome starts before the age of 20.
Contents |
[edit] Presentation
Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration, specifically retinitis pigmentosa, as common features.
Other characteristic features of KSS are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects.
White matter lesions are usually seen.[1]
[edit] Development
The deletion event in KSS is sporadic (i.e. a stochastic event), and occurs either in oogenesis or early in embroygenesis (pre-blastocyst stage). Some mutated mitochondria can enter the zygote when the ovum's 150000 mtDNA copies are reduced to a much smaller set. Once in the embryo, the giant-deletion mutants can enter the ectoderm, mesoderm and endoderm, causing systemic disorders.[2]
[edit] Prognosis
There is no treatment for Kearns-Sayre syndrome as of now. In general, only palliative medications are available to sufferers in order to help relieve the symptoms of the disease.
[edit] Eponym
It is named for Thomas Kearns and George Sayre.[3][4]
[edit] References
- ^ Filosto M, Tomelleri G, Tonin P, et al (2007). "Neuropathology of mitochondrial diseases". Biosci. Rep. 27 (1-3): 23–30. doi:. PMID 17541738.
- ^ DiMauro S, Schon EA (2003). "Mitochondrial Respiratory-Chain Diseases". N Engl J Med 348 (26): 2656–2668. doi:. PMID 12826641.
- ^ synd/1884 at Who Named It
- ^ Kearns T, Sayre G (1958). "Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases". A.M.A. archives of ophthalmology 60 (2): 280–9. PMID 13558799.
[edit] External links
 |
This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
|
||||||||
