French Canadian Leigh disease
ORPHA: 70472
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 French Canadian Leigh disease, sourced from HPO and Orphanet clinical annotations.
SeizureAtaxiaSpasticityMuscle weaknessHepatic steatosisDecreased liver functionHypertrophic cardiomyopathyChoreaProgressive neurologic deteriorationDevelopmental regressionPoor speechInability to walkCytochrome C oxidase-negative muscle fibersFocal T2 hyperintense basal ganglia lesionPeripheral neuropathyMultifocal epileptiform dischargesEEG with abnormally slow frequenciesAbnormality of movementBrachycephalyGeneralized hypotoniaAbnormal heart morphologyCongestive heart failureAbnormal facial shapeDysphagiaGastroesophageal refluxAbnormal cerebral morphologyOrofacial dyskinesiaObstructive sleep apneaRespiratory failureHypopigmentation of hairGeneralized dystoniaCentral sleep apneaGastrostomy tube feeding in infancyAbnormal reproductive system morphologyDyskinesiaHypotoniaGlobal developmental delayFailure to thriveMetabolic acidosisIncreased circulating lactate concentrationStroke-like episodeIncreased CSF lactateLactic acidosisDecreased activity of mitochondrial complex IVAbnormal circulating enzyme concentration or activity
Classification & Codes
Orphanet Code
ORPHA:70472French Canadian Leigh disease
| Orphanet | ORPHA:70472 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO