Синдром Кернса-Сейра
ORPHA:480· ICD-10 H49.8· Kearns-Sayre syndrome
Визначення(English summary)
A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive, Mitochondrial inheritance, Not applicable
- Вік початку
- Adolescent, Adult, Childhood, Infancy