maternally-inherited cardiomyopathy and hearing loss
ORPHA: 1349
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 cardiomyopathy and hearing loss, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentAtaxiaGait disturbanceMuscle weaknessSlurred speechHypertrophic cardiomyopathyMild global developmental delayProgressive external ophthalmoplegiaOphthalmoparesisMental deteriorationEncephalopathyCongestive heart failureDilated cardiomyopathyDyspneaIncreased circulating lactate concentrationRagged-red muscle fibersEMG abnormalityIncreased circulating pyruvate concentrationExercise intoleranceLower limb painAbnormal cardiovascular system morphologyHypertensionMultiple lipomasHyperreflexiaFebrile seizure (within the age range of 3 months to 6 years)MyalgiaIncreased adipose tissuePeripheral neuropathyFatigueChest pain
Classification & Codes
Orphanet Code
ORPHA:1349maternally-inherited cardiomyopathy and hearing loss
| Orphanet | ORPHA:1349 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO