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Machado-joseph disease

Machado-joseph disease

a progressive degenerative disease of the central nervous system occurring in portuguese-azorean families, having a variety of forms and inherited as an autosomal dominant trait. There are four major types: type I: with pyramidal and extrapyramidal deficits; type II: with cerebellar, pyramidal and extrapyramidal deficits; type III: with cerebellar deficits and distal sensorimotor neuropathy; type IV: with parkinsonism and distal sensory neuropathy. It was originally reported in two portuguese-azorean families in massachusettes (machado), then in another portuguese family (thomas), and later in a third family in california (joseph, who settled there in 1845). It has been reported also in japanese families.


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