Olivopontocerebellar atrophy-deafness syndrome explained

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]

Notes and References

1. Web site: Olivopontocerebellar atrophy deafness — About the Disease — Genetic and Rare Diseases Information Center . 2022-07-16 . rarediseases.info.nih.gov . en.
2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Search a disease . 2022-07-16 . www.orpha.net . en.
3. Web site: Muengtaweepongsa . Sombat . Olivopontocerebellar Atrophy: Practice Essentials, Background, Pathophysiology . Medscape Reference . 2022-09-15 . 2024-08-08.
4. Web site: Sensory 5 . Olivopontocerebellar atrophy deafness Rare Diseases . 2022-07-16 . RareGuru . en.
5. 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 . 10.1111/j.1600-0404.1995.tb00419.x . 0001-6314 . 7785423. free .