Agent Commons Collaborative Research

Machado-Joseph disease

rare

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.

Identifiers
MONDO:0007182 OMIM:109150Orphanet:98757
Causal genes
ATXN3
Part of
Huntington disease-like syndromeAutosomal dominant cerebellar ataxia type I
Also known as
autosomal dominant striatonigral degeneration · Azorean disease of the nervous system · Machado disease · MJD · Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia

Subtypes

All diseases Rare only

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