Leigh disease
MeSH: D007888ORPHA: 506
Overview
mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Leigh disease, sourced from HPO and Orphanet clinical annotations.
Increased circulating lactate concentrationIncreased CSF lactateLactic acidosisLacticaciduriaFloppy infantAbnormal circulating enzyme concentration or activityAbnormality of movementSensorineural hearing impairmentAbnormal optic nerve morphologyOphthalmoplegiaOptic atrophyHypertrichosisGlobal developmental delayFailure to thriveGrowth delayHypertrophic cardiomyopathyGliosisProgressive neurologic deteriorationDevelopmental regressionLeukodystrophyUpper motor neuron dysfunctionDecreased activity of the pyruvate dehydrogenase complexInvoluntary movementsDiffuse spongiform leukoencephalopathyFocal T2 hyperintense basal ganglia lesionComplex organic aciduriaDecreased activity of mitochondrial respiratory chainDecreased activity of mitochondrial complex IFeeding difficultiesAbnormal thalamic MRI signal intensityElevated brain lactate level by MRSAbnormal brainstem MRI signal intensityFocal T2 hyperintense brainstem lesionAbnormal basal ganglia MRI signal intensitySevere viral infectionAbnormal dentate nucleus morphologyBrain imaging abnormalityPtosisNystagmusAbnormality of the skeletal systemSeizureAtaxiaSpasticitySpastic diplegiaChoreoathetosisAgenesis of corpus callosumMuscle weaknessDystoniaHepatic failureCongestive heart failureAnemiaHypoglycemiaKetoacidosisDysphagiaAbnormality of extrapyramidal motor functionChoreaHypoplasia of the corpus callosumAthetosisDistal muscle weaknessHyperkinetic movementsHypsarrhythmiaOlivopontocerebellar atrophyAbnormal pattern of respirationMultiple joint contracturesRespiratory failureGeneralized aminoaciduriaMyopathySkeletal muscle atrophyEthylmalonic aciduriaHyperalaninemiaSensory axonal neuropathy3-Methylglutaconic aciduriaDecreased activity of mitochondrial complex IVPeripheral neuropathyDecreased activity of mitochondrial complex IIIMethylmalonic aciduriaNeuronal loss in basal gangliaDecreased circulating biotinidase concentrationNephrotic syndromeRenal tubular dysfunctionHigh foreheadMacrotiaCataractEczematoid dermatitisCerebellar atrophyIntrauterine growth retardationAlopeciaVentricular septal defectDecreased total neutrophil countRenal tubular acidosisAbnormal facial shapeStatus epilepticusGastrointestinal dysmotilityDecreased activity of mitochondrial complex IIFrontal hirsutismInfantile spasmsEncephalomalaciaDyskinesia
Classification & Codes
MeSH Code
D007888Orphanet Code
ORPHA:506Leigh disease
| MeSH | D007888 |
| Orphanet | ORPHA:506 |
| Treatments | 0 drug(s) |
| Symptoms on record | 98 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO