Machado-Joseph disease
Machado-Joseph disease
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), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
Also known as autosomal dominant striatonigral degeneration, Azorean disease of the nervous system, Machado disease, Machado-Joseph disease, MJD, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, SCA3, spinocerebellar ataxia 3, spinocerebellar ataxia type 3 — per MONDO
Also identified as
- DOID 1440 per MONDO
- ICD9 336.8 per MONDO
- MESH D017827 per MONDO
- NCIT C84830 per MONDO
- OMIM 109150 per MONDO
- Orphanet 98757 per MONDO
- SCTID 91952008 per MONDO
- UMLS C0024408 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |