Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Orpha code: 2579OMIM code: 158500

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Furukawa-Takagi-Nakao syndrome
Zespół Furukawa, Takagi i Nakao
Kod ORPHA
2579
Kod OMIM
158500
Kod ICD10
G11.1
Kod ICD11
-

No additional description.

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