recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
ORPHA: 480864
Overview
human disease
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 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Hypoglycemic seizuresFocal impaired awareness seizureBabinski signGeneralized tonic seizureMild global developmental delaySevere global developmental delayInfantile spasmsMultifocal seizuresElevated circulating acylcarnitine concentrationCerebral visual impairmentMicrocephalySensorineural hearing impairmentIntellectual disabilityGlobal developmental delayIncreased circulating lactate concentrationKetonuriaAbnormal EKGElevated circulating creatine kinase concentrationEMG: myopathic abnormalitiesDelayed speech and language developmentSeizureAtaxiaProlonged QT intervalHypoglycemiaHyperammonemiaAbnormality of extrapyramidal motor functionGlobal brain atrophyIncoordinationDevelopmental regressionGastrointestinal dysmotilityElevated circulating hepatic transaminase concentrationLactic acidosisInvoluntary movementsCompensated hypothyroidismFeeding difficulties in infancyAcute rhabdomyolysisModerate global developmental delayArrhythmiaDelayed ability to walkSupranuclear gaze palsyNystagmusAmblyopiaOptic atrophyHypertoniaStrokeDystoniaHyperreflexiaDysphagiaBilateral tonic-clonic seizureGeneralized myoclonic seizureClonus
Classification & Codes
Orphanet Code
ORPHA:480864recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
| Orphanet | ORPHA:480864 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO