SANDO: another presentation of mitochondrial disease

Am J Ophthalmol. 2004 May;137(5):951-3. doi: 10.1016/j.ajo.2003.10.046.


Purpose: To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction.

Design: Case report.

Methods: Case report and review of the literature.

Results: A 43-year-old man presented with a Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO). Nerve conduction studies showed a sensory ganglionopathy. Skeletal muscle biopsy revealed ragged red fibers, and polymerase chain reaction analysis of the tissue demonstrated multiple mitochondrial DNA deletions.

Conclusion: Mitochondrial disease should be considered in cases of external ophthalmoplegia, especially if a sensory ganglionopathy and dysarthria are present.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ataxia / diagnosis*
  • Ataxia / genetics
  • Biopsy
  • DNA, Mitochondrial / genetics
  • Dysarthria / diagnosis*
  • Dysarthria / genetics
  • Eye Movements
  • Ganglia, Sensory / pathology*
  • Humans
  • Male
  • Mitochondria, Muscle / pathology
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / genetics
  • Muscle, Skeletal / pathology
  • Neural Conduction
  • Ophthalmoplegia, Chronic Progressive External / diagnosis*
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Peripheral Nervous System Diseases / diagnosis*
  • Peripheral Nervous System Diseases / genetics
  • Polymerase Chain Reaction
  • Syndrome


  • DNA, Mitochondrial