| 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.
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.
References
- "Olivopontocerebellar atrophy deafness — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-16.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease". www.orpha.net. Retrieved 2022-07-16.
{{cite web}}: CS1 maint: numeric names: authors list (link) - Muengtaweepongsa, Sombat (2022-09-15). "Olivopontocerebellar Atrophy: Practice Essentials, Background, Pathophysiology". Medscape Reference. Retrieved 2024-08-08.
- Sensory 5. "Olivopontocerebellar atrophy deafness | Rare Diseases". RareGuru. Retrieved 2022-07-16.
{{cite web}}: CS1 maint: numeric names: authors list (link) - 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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