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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