Orphanet: Sensory ataxic neuropathy dysarthria ophthalmoparesis syndrome

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Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • SANDO
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G71.3
  • OMIM: 607459
  • UMLS: C1843851
  • MeSH: C537583
  • GARD: 9998
  • MedDRA: -

Detailed information


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