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Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Disease definition

A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.

ORPHA:2579

Classification level: Disorder
  • Synonym(s):
    • Furukawa-Takagi-Nakao syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G11.1
  • OMIM: 158500
  • UMLS: C2931765
  • MeSH: C538193
  • GARD: 2417
  • MedDRA: -

  A summary on this disease is available in Italiano (2006) Español (2020) Français (2020) Nederlands (2020)

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.