Machado-Joseph disease type 2

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Name:
Machado-Joseph disease type 2
Description:
Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
ORPHAcode:
276241
Synonyms:
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14