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Otolaryngologist’s role in the diagnosis of amyotrophic lateral sclerosis
  1. Joana Borges Costa1,
  2. Diogo Pereira2,
  3. Delfim Duarte1 and
  4. Miguel Viana1
  1. 1ENT, Hospital Pedro Hispano, Matosinhos, Portugal
  2. 2Centro Hospitalar Universitário de São João, Porto, Portugal
  1. Correspondence to Dr Joana Borges Costa; costa.jrb{at}


Amyotrophic lateral sclerosis (ALS) is a progressive and late-onset fatal neurodegenerative disease characterised by selective death of motor neurons. The aetiology of ALS is still unknown and it is extremely heterogeneous in genetics and clinical presentation, being the respiratory failure the usual cause of death. We describe a case of a 61-year-old male patient referred to the otolaryngology consultation for a 6-month history of progressive solid dysphagia and dysphonia. The patient presented several voice alterations such as a dysarthric speech with hypernasal voice which evoked the hypothesis of a neuromuscular disease. That patient was observed by a neurologist and was submitted to an electromyography that confirmed the ALS diagnosis. This case highlights the key role of otolaryngologists in the diagnosis of ALS, in a way that many patients with a bulbar ALS form are initially studied by an otolaryngologist.

  • ear
  • nose and throat/otolaryngology
  • motor neurone disease

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  • Contributors JBC wrote the first draft of the article. DP, DD and MV critically reviewed and edited drafts. The entire group participated in parts or all of the case report development process and contributed to the editing and revision of this article.

  • 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 Next of kin consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.