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

*
*RareDiseases|6817|Kearns Sayre syndrome


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Kearns–Sayre syndrome — Kearns Sayre syndrome Classification and external resources ICD 10 H49.8 ICD 9 277.87 …   Wikipedia

  • Kearns-Sayre syndrome — Kearns Sayre syndrome. См. синдром Кирнса Сейра. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Kearns-Sayre syndrome — (kernzґ sār) [Thomas P. Kearns, American ophthalmologist, born 1922; George Pomeroy Sayre, American pathologist, born 1911] see under syndrome …   Medical dictionary

  • Kearns-Sayre syndrome — noun Oculocraniosomatic disease …   Wiktionary

  • Kearns-Sayre syndrome — progressive ophthalmoplegia, pigmentary degeneration of the retina, myopathy, ataxia, and cardiac conduction defect; onset is before age 20. Almost all patients have large mitochondrial DNA deletions, and ragged red fibers are seen on muscle… …   Medical dictionary

  • Kearns-Sayre-Syndrom — Klassifikation nach ICD 10 G31.81 Mitochondriale Zytopathie …   Deutsch Wikipedia

  • Syndrome de Kearns-Sayre — Le Syndrome de Kearns Sayre est une maladie neuromusculaire (myopathie; ophtalmoplégie), due à des délétions de l ADN mitochondrial : de 1,3 à 8kb (souvent 5kb). Ce sont des délétions très souvent sporadiques, et donc hétéroplasmiques. Les… …   Wikipédia en Français

  • Síndrome de Kearns-Sayre — Clasificación y recursos externos CIE 10 H49.8 CIE 9 277.87 OMIM 530000 …   Wikipedia Español

  • síndrome de Kearns-Sayre — Eng. Kearns Sayre syndrome Síndrome de herencia autosómica recesiva en el que se asocia retinosis pigmentaria, oftalmoplejía nuclear, miopatía con alteración de la musculatura extraocular y respiratoria lo que provoca distrés y defectos en la… …   Diccionario de oftalmología

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”