Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome

Alyson Lovan, Ihtsham Ul Haq, Nikhil Balakrishnan

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

A woman in her early 60s presented to our Movement Disorders Centre with a 5-year history of progressive peripheral neuropathy, gait instability with falls, blurred vision, cognitive impairment and tremors. The patient was found to have profound sensory ataxia, chronic ophthalmoplegia, dementia with significant deficits in registration and construction and bilateral resting tremor of the hands. Investigations revealed an unremarkable MRI of the brain, negative cerebrospinal fluid studies, and unremarkable chemistries. Nerve conduction studies found a severe sensorimotor axonal polyneuropathy. Genetic testing revealed a compound heterozygous mutation in the POLG1 gene consistent with the diagnosis of Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome.

Original languageEnglish (US)
Article number010343
JournalBMJ case reports
DOIs
StatePublished - Aug 30 2013
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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