Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Definition
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
Also known as AOA2, ataxia with oculomotor apraxia type 2, ataxia-ocular apraxia 2, ataxia-oculomotor apraxia 2, ataxia-oculomotor apraxia type 2, SCAN 2, SCAN2, spinocerebellar ataxia with axonal neuropathy type 2, spinocerebellar ataxia, autosomal recessive 1, spinocerebellar ataxia, autosomal recessive type 1 — per MONDO
Also identified as
- DOID 0050755 per MONDO
- MESH C537308 per MONDO
- NCIT C165500 per MONDO
- OMIM 606002 per MONDO
- Orphanet 64753 per MONDO
- SCTID 725408001 per MONDO
- UMLS C1853761 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 |