Disease association ontology term - MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Term summary
- ID
- MONDO:0011835
- Name
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Ontology or CV name
- Disease association
- Definition
- A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
