Medicine:Olivopontocerebellar atrophy-deafness syndrome
From HandWiki
| Olivopontocerebellar atrophy-deafness syndrome | |
|---|---|
| Specialty | Medical genetics |
| Complications | Hearing impairment, cerebellar ataxia |
| Usual onset | Infancy |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Risk factors | Being of Omani ancestry |
| Prevention | none |
| Deaths | - |
Olivopontocerebellar atrophy-deafness syndrome is a rare genetic disorder characterized by olivopontocerebellar atrophy which begins in infancy, sensorineural hearing loss, and speech delay. Additional findings include cerebellar ataxia. Inheritance pattern varies among families.[1][2][3][4]
It has been described in 11 Omani children. The pedigrees of these children couldn't identify a solid mode of inheritance: 8 of the 11 children were suspected to be sporadic cases, while the pedigrees of 3 of the 11 children pointed to autosomal recessive inheritance.[5]
References
- ↑ "Olivopontocerebellar atrophy deafness — About the Disease — Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/4070/olivopontocerebellar-atrophy-deafness.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2492.
- ↑ Olivopontocerebellar Atrophy: Background, Pathophysiology, Epidemiology. 2022-03-11. https://emedicine.medscape.com/article/1151013-overview#a4.
- ↑ Sensory 5. "Olivopontocerebellar atrophy deafness | Rare Diseases" (in en). https://rareguru.com/library/disease/4280/olivopontocerebellar-atrophy-deafness.
- ↑ Pratap-Chand, R.; Gururaj, A. K.; Dilip-Kumar, S. (1995-02-01). "A syndrome of olivopontocerebellar atrophy and deafness with onset in infancy". Acta Neurologica Scandinavica 91 (2): 133–136. doi:10.1111/j.1600-0404.1995.tb00419.x. ISSN 0001-6314. PMID 7785423.
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