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Ataxia-tapetoretinal degeneration syndrome

Disease definition

A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.

ORPHA:1178

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Unknown 
  • Age of onset: Infancy, Childhood, Adolescent
  • ICD-10: G11.1
  • OMIM: 272600
  • UMLS: C5190865
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

General public

Guidelines

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.