Machado-Joseph disease type 2
Machado-Joseph disease type 2
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.
Also known as azorean disease, type ii, SCA3, Thomas type, spinocerebellar ataxia, Thomas type — per MONDO