Machado-Joseph disease type 2

Orpha code: 276241OMIM code:

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
SCA3, Thomas type
Ataksja rdzeniowo-móżdżkowa typu 3, typ Thomasa
SCA3, typ Thomasa
Spinocerebellar ataxia, Thomas type
ORPHA code
276241
OMIM code
-
ICD10 code
G11.8
ICD11 code
8A03.16

No additional description.

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