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Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND)
  1. Wladimir B V R Pinto,
  2. Igor Braga Farias,
  3. Bruno de Mattos Lombardi Badia,
  4. Luiz Henrique Libardi Silva,
  5. Mario Teruo Yanagiura,
  6. Marco Antônio Troccoli Chieia,
  7. Paulo Victor Sgobbi de Souza,
  8. Acary Souza Bulle Oliveira
  1. Neurology and Neurosurgery, UNIFESP - Federal University of São Paulo, Sao Paulo, Brazil
  1. Correspondence to Dr Wladimir B V R Pinto, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04023-062, Brazil; wladimirbvrpinto{at}gmail.com

Abstract

Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.

  • motor neuron disease
  • nystagmus
  • fewdon-mnd
  • amyotrophic lateral sclerosis
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Footnotes

  • Contributors No additional coauthors have participated in the manuscript writing and submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Ethics approval This study was approved by our ethics institution.

  • Provenance and peer review Not commissioned; externally peer reviewed by Martin Turner, Oxford, UK.

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