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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.

ORPHA:70595

Classification level: Disorder
  • Synonym(s):
    • SANDO
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G71.3
  • ICD-11: 5C53.21
  • OMIM: 607459
  • UMLS: C1843851
  • MeSH: C537583
  • GARD: 9998
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Italiano (2007)

Detailed information

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.