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Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Disease 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.

ORPHA:1171

Classification level: Disorder
  • Synonym(s):
    • CAPOS syndrome
    • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Mitochondrial inheritance 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.1
  • OMIM: 601338
  • UMLS: C1832466
  • MeSH: C535351
  • GARD: 1188
  • MedDRA: -

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015) Deutsch (2004) Français (2004) Polski ()

Detailed information

General public

Guidelines

Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.