Мязова атрофія-атаксія-пігментна дегенерація сітківки-цукровий діабет
ORPHA:2579· ICD-10 G11.1· Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood