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Machado-Joseph disease |
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Machado-Joseph disease [mächä′dō jō′səf] Etymology: Machado and Joseph, afflicted families a progressive degenerative disease of the central nervous system occurring in families of Portuguese-Azorean descent, 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; and Type IV, with parkinsonism and distal sensory neuropathy. Also called Azorean disease, Joseph disease, Portuguese-Azorean disease. Machado-Joseph disease Neurology An AD trinucleotide repeat disease characterized by progressive spinocerebellar ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia. See Trinucleotide repeat disease. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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