Kearns-Sayre syndrome

Kearns-Sayre syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 7137
ICD10 = ICD10|H|49|8|h|49
ICD9 = ICD9|277.87
ICDO =
OMIM = 530000
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 2763
MeshID = D007625

Kearns-Sayre syndrome (abbreviated KSS) or Ragged Red Fiber Myopathy 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.

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.cite journal |author=Filosto M, Tomelleri G, Tonin P, "et al" |title=Neuropathology of mitochondrial diseases |journal=Biosci. Rep. |volume=27 |issue=1-3 |pages=23–30 |year=2007 |pmid=17541738 |doi=10.1007/s10540-007-9034-3]

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.cite journal |author= DiMauro S, Schon EA |title=Mitochondrial Respiratory-Chain Diseases |journal=N Engl J Med |volume=348 |issue=26 |pages=2656–68 |year=2003 |pmid=12826641 |doi=10.1056/NEJMra022567]

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.

Eponym

It is named for Thomas Kearns and George Sayre. [WhoNamedIt|synd|1884] [cite journal |author=Kearns T, Sayre G |title=Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases |journal=A.M.A. archives of ophthalmology |volume=60 |issue=2 |pages=280–9 |year=1958 |pmid=13558799]

References

External links

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*RareDiseases|6817|Kearns Sayre syndrome


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