Spinocerebellar ataxia type 3

Orpha code: 98757OMIM code: 109150

Definition

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.

Disease data
Classification

Disease

Synonyms
Azorean disease of the nervous system
Autosomalnie dominujące zwyrodnienie nigrostriatalne
Azorańska choroba układu nerwowego
Choroba Machado
Choroba Machado i Josepha
MJD
MJD
Machado disease
Machado-Joseph disease
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
SCA3
ORPHA code
98757
OMIM code
109150
ICD10 code
G11.8
ICD11 code
-

No additional description.

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