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Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

Orpha number ORPHA70595
Synonym(s) SANDO
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Adult
ICD-10
  • G71.3
ICD-O -
OMIM
UMLS
  • C1843851
MeSH
  • C537583
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. Autosomal recessive and dominant inheritance, as well as sporadic occurrence, have been suggested.


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