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ENMachado-Joseph Disease (MJD)
Alias:
Sca3
Mjd
Spinocerebellar Ataxia Type 3
Azorean Disease
Spinocerebellar Ataxia 3
Spinocerebellar Atrophy
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia
Azorean Disease of the Nervous System
Nigrospinodentatal Degeneration
Azorean Neurologic Disease
Spinopontine Atrophy
Machado Disease
Spinocerebellar Atrophy Type 3
Spinocerebellar Atrophy Iii
Disease, Machado-Joseph
Ataxia, Spinocerebellar
Azorean Ataxia
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Machado-Joseph Disease, also known as sca3, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 1, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Deubiquitination and Disorders of transmembrane transporters. The drugs Lithium carbonate and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are hyperreflexia and abnormal pyramidal sign
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