Recessive mitochondrial ataxia syndrome
ORPHA:94125· ICD-10 G11.8
Definition
A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood