Mitochondrial DNA-related cardiomyopathy and hearing loss
ORPHA:1349· ICD-10 E88.8
Definition
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adult, Childhood