Article
Machado-Joseph Disease: from first descriptions to new perspectives.
Orphanet journal of rare diseases - 2 Jun 2011
Bettencourt Conceição, Lima Manuela
Abstract excerpt
Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), represents the most common form of SCA worldwide. MJD is an autosomal dominant neurodegenerative disorder of late onset, involving predominantly the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems; although sharing features with other SCAs, the identification of minor, but more specific signs, facilitates...
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