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sensory ataxic neuropathy, dysarthria & ophthalmoparesis (SANDO)

Genetics: - associated with defects in POLG or PEO1 - multiple mitochondrial DNA deletions in muscle Clinical manifestations: - clinically heterogeneous systemic disorder with variable features resulting from mitochondrial dysfunction - sensory ataxic neuropathy (may present with striking ataxia) - dysarthria - ophthalmoparesis

General

genetic disease of the central nervous system

Database Correlations

OMIM 607459

References

  1. OMIM :accession 607459
  2. UniProt :accession P54098