[MIM 601 338]

Acronym for Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineuronal hearing loss.

Incidence < 1.106. Autosomal dominant or mitochondrial transmission of a mutation of the ATP1A3 gene (19q13.2).

Association of:

-        areflexia without peripheral neuropathy,

-        pes cavus,

-        early cerebellar ataxia with relapses, often triggered by a febrile episode

-        progressive optic atrophy

-        sensorineural deafness, of varying severity

Anesthetic implications:

hearing problems, avoiding postoperative fever

References :

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Updated: December 2020