Mitochondrial DNA-associated Leigh syndrome
ORPHA:255210· ICD-10 E88.8
Definition
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
- Prevalence
- Unknown
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Childhood, Infancy