MELAS syndrome
MeSH: D017241ORPHA: 550
Overview
one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy
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 MELAS syndrome, sourced from HPO and Orphanet clinical annotations.
DementiaSeizureMuscle weaknessMigraineIncreased circulating lactate concentrationEEG abnormalityAphasiaStroke-like episodeLactic acidosisRagged-red muscle fibersAbnormal mitochondria in muscle tissueAplasia/Hypoplasia of the cerebral white matterWidened cerebral subarachnoid spaceSensorineural hearing impairmentVisual lossPsychosisDepressionShort attention spanAnxietyDiabetes mellitusAtaxiaHemiparesisGait disturbanceEncephalopathySpecific learning disabilityMyoclonusVomitingBilateral tonic-clonic seizureBasal ganglia calcificationRecurrent paroxysmal headacheMemory impairmentIncreased CSF lactateIncreased CSF protein concentrationMyopathyShort statureFluctuations in consciousnessFocal-onset seizurePeripheral neuropathyImpaired visuospatial constructive cognitionProteinuriaFocal segmental glomerulosclerosisNephropathyProximal tubulopathyPigmentary retinopathyProgressive external ophthalmoplegiaOptic atrophyPersonality changesHypertrichosisVitiligoGlobal developmental delayMotor delayAgenesis of corpus callosumPsychotic mentationFailure to thriveCardiomyopathyHypertrophic cardiomyopathyDilated cardiomyopathyWolff-Parkinson-White syndromeAnemiaFeverDiarrheaConstipationHypoplasia of the corpus callosumPulmonary arterial hypertensionCerebral cortical atrophyGastrointestinal dysmotilityPeripheral axonal neuropathyExercise intoleranceReduced consciousnessIntestinal pseudo-obstructionConcentric hypertrophic cardiomyopathyType II diabetes mellitusDistal peripheral sensory neuropathySensorimotor neuropathyBipolar affective disorderMixed demyelinating and axonal polyneuropathyErythemaAbnormal central motor functionBrain atrophyElevated brain lactate level by MRSStutteringCardiac conduction abnormalityRecurrent pancreatitisType I diabetes mellitusHypogonadotropic hypogonadismHypothyroidismHypoparathyroidism
Classification & Codes
MeSH Code
D017241Orphanet Code
ORPHA:550MELAS syndrome
| MeSH | D017241 |
| Orphanet | ORPHA:550 |
| Treatments | 0 drug(s) |
| Symptoms on record | 87 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO