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Spinocerebellar ataxia type 3

ORPHA:98757· ICD-10 G11.8

Definition

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.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant
Age of onset
Adult, Childhood