Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ORPHA:1171· ICD-10 G11.1
Definition
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Mitochondrial inheritance
- Age of onset
- Infancy, Neonatal