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Start free with EleplanMitochondrial DNA-associated Leigh syndrome
ORPHA:255210Disease
Also called MILS · Maternally-inherited Leigh disease · Maternally-inherited infantile subacute necrotizing encephalopathy · mtDNA-associated Leigh syndrome
What it is
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.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Mitochondrial inheritance
- Classified as
- Disease
Signs and symptoms
Common30–79%
21- Ataxia
- Bilateral tonic-clonic seizure
- Chorea
- Dyskinesia
- Dystonia
- Episodic vomiting
- Failure to thrive
- Floppy infant
- Focal T2 hyperintense basal ganglia lesion
- Gait ataxia
- Generalized myoclonic seizure
- Hypertonia
- Increased circulating lactate concentration
- Lacticaciduria
- Muscle weakness
- Ophthalmoparesis
- Pigmentary retinopathy
- Seizure
- Sensorimotor neuropathy
- Severe global developmental delay
- Spasticity
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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