Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Synonym(s) SANDO
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Adult
  • G71.3
  • C1843851
  • C537583
MedDRA -


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.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
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.