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GTR Home > Conditions/Phenotypes > Azorean disease

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 3
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.

Genes See tests for all associated and related genes

  • Also known as: AT3, ATX3, JOS, MJD, MJD1, SCA3, ATXN3
    Summary: ataxin 3

Clinical features

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Practice guidelines

  • EFNS/ENS, 2014
    EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

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