Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements

Neurology. 2024 Dec 10;103(11):e210046. doi: 10.1212/WNL.0000000000210046. Epub 2024 Nov 12.

Abstract

A 50-year-old male patient presented with a 10-year history of progressive cerebellar ataxia, multifocal dystonia with dystonic tremors, and oculomotor abnormalities including bilateral ptosis, slow saccades, and reduced range of ocular movements. There were no signs of cognitive impairment, parkinsonism, autonomic dysfunction, or muscle weakness, and the family history was unremarkable. This case presents the diagnostic approach to adult-onset cerebellar ataxia with dystonia and abnormal eye movements. In this era of genomic testing, our case highlights the role of clinical phenotyping and the utility of whole-exome sequencing in ataxias.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Ataxia* / complications
  • Cerebellar Ataxia* / diagnosis
  • Cerebellar Ataxia* / genetics
  • Cerebellar Ataxia* / physiopathology
  • Clinical Reasoning
  • Dystonia* / diagnosis
  • Dystonia* / genetics
  • Dystonia* / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Ocular Motility Disorders* / diagnosis
  • Ocular Motility Disorders* / physiopathology