Machado-Joseph disease type 2
ORPHA:276241· ICD-10 G11.8
Definition
Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adult