Machado-Joseph disease: the vestibular presentation

J Otolaryngol. 1986 Jun;15(3):184-8.

Abstract

Three patients presented with Machado-Joseph disease. We documented the vestibular abnormalities characteristic of Machado-Joseph disease during clinical examination. Electronystagmographic (ENG) abnormalities included bilateral gaze nystagmus, saccadic pursuit and failure of fixation suppression suggestive of cerebellar-brainstem pathology. Machado-Joseph disease is a degenerative neurological condition, inherited in an autosomal dominant fashion. It occurs in patients of Portuguese Azorean extraction. We suggest that otolaryngologists with a referral base including a Portuguese community be familiar with this disease as it may present in its early stages with symptoms of non-specific imbalance.

Publication types

  • Case Reports

MeSH terms

  • Azores / ethnology
  • British Columbia
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology
  • Electronystagmography
  • Fixation, Ocular
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / physiopathology
  • Pedigree
  • Saccades
  • Syndrome
  • Vestibule, Labyrinth / physiopathology*