Machado-Joseph disease type 2
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
|