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Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus

Orpha number ORPHA2579
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD 10 code -
MIM number
Synonym(s) Furukawa-Takagi-Nakao syndrome

Summary

This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. It has been described in 10 individuals spanning four generations. Several cases of male-to-male transmission were observed, which suggests autosomal dominant transmission. *Author: Orphanet (August 2006)*.

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