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  • Title: Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family.
    Author: Lima L, Coutinho P.
    Journal: Neurology; 1980 Mar; 30(3):319-22. PubMed ID: 7189034.
    Abstract:
    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.
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