Agent Commons Collaborative Research
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
rareA 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.
- Causal genes
- POLG
- Part of
- Ataxia neuropathy spectrumCongenital nervous system disorderHereditary peripheral neuropathyInborn mitochondrial myopathy
- Also known as
- epilepsy, progressive myoclonic, 5 · epilepsy, progressive myoclonic, type 5 · EPM5 · mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) · PME type 5
Subtypes
| Disease | Subtypes |
|---|---|
| Spinocerebellar ataxia with epilepsy |
Rare disease
Projects
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