maternally-inherited Leigh syndrome
MeSH: C536035ORPHA: 255210
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 maternally-inherited Leigh syndrome, sourced from HPO and Orphanet clinical annotations.
ApneaHepatomegalyDevelopmental regressionBulbar signsHyperventilationHyperalaninemiaSegmental peripheral demyelination/remyelinationMitochondrial myopathyEpisodic respiratory distressDemyelinating peripheral neuropathyInfantile spasmsAbnormal prosodyCardiac conduction abnormalityMultiple glomerular cystsRagged-red muscle fibersLow plasma citrullineAbnormality of Krebs cycle metabolismIncreased CSF lactatePigmentary retinopathyOphthalmoparesisSeizureAtaxiaSpasticityHypertoniaMuscle weaknessDystoniaFailure to thriveGait ataxiaBilateral tonic-clonic seizureChoreaGeneralized myoclonic seizureIncreased circulating lactate concentrationEpisodic vomitingLacticaciduriaSensorimotor neuropathyFocal T2 hyperintense basal ganglia lesionFloppy infantSevere global developmental delayDyskinesiaAbnormal renal tubule morphologySensorineural hearing impairmentRod-cone dystrophyNystagmusOptic atrophyHyporeflexiaHyperreflexiaHepatic failureHypertrophic cardiomyopathyDilated cardiomyopathyFeverDysphagiaHypothermiaDyspnea
Classification & Codes
MeSH Code
C536035Orphanet Code
ORPHA:255210maternally-inherited Leigh syndrome
| MeSH | C536035 |
| Orphanet | ORPHA:255210 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO