Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family.
A Portuguese family of non-Azorean origin is described as affected by an autosomal dominant inherited ataxia resembling Machado-Joseph disease. Clinical criteria for diagnosis are proposed, based on a complex clinical picture extending from extrapyramidal signs to peripheral amyotrophy associated with secondary, but more specific, minor features such as progressive external ophthalmoplegia, dystonia, intention fasciculation-like movements of facial and lingual muscles, and bulging eyes. Machado-Joseph disease may be more widespread than previously believed.
D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009886:Ophthalmoplegia / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011174:Portugal