Olivopontocerebellar atrophy-deafness syndrome

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]

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	-

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]