BabelNet

bn:01673663n

Noun Concept

Categories: Disorders of synthesis of DNA, RNA, and proteins, Rare diseases, Systemic atrophies primarily affecting the central nervous system, Neurodegenerative disorders

Machado-Joseph disease Machado–Joseph disease Azorean disease Autosomal dominant striatonigral degeneration Azorean disease of the nervous system

Machado–Joseph disease, also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3, is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities. Wikipedia

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Autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats in the ATXN3 gene Wikidata

IS A

rare disease

spinocerebellar ataxia

Huntington's disease-like syndrome

GENETIC ASSOCIATION

Ataxin 3

HEALTH SPECIALTY

neurology

Wikipedia

Machado–Joseph disease

Wikidata

Machado-Joseph disease

Wikipedia Redirections

Joseph disease, Machado-Joseph Azorean disease, Machado-Joseph disease, SCA3, Spinocerebellar Ataxia Type-3, spinocerebellar ataxia type 3, Spinocerebellar atrophy type 3

Wikidata Alias

Autosomal dominant striatonigral degeneration, Azorean disease, Azorean disease of the nervous system, Azorean Neurologic Disease, MACHADO-JOSEPH DISEASE, MACHADO-JOSEPH DISEASE; MJD, Machado disease, MJD, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, Nigrospinodentatal Degeneration, SCA3, spinocerebellar ataxia 3, spinocerebellar ataxia type 3, Spinocerebellar Atrophy 3, Spinopontine Atrophy