Machado-Joseph disease: the vestibular presentation.
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.
D001394:Azores / Q000208:ethnology; D001955:British Columbia; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D004584:Electronystagmography; D005403:Fixation, Ocular; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012438:Saccades; D013577:Syndrome; D014722:Vestibule, Labyrinth / Q000503:physiopathology*