01
AFG3L2
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Spinocerebellar Ataxia Type 2
- Standard Disease Name
- spinocerebellar ataxia type 2
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D020754
- OMIM ID
- 601517|183090|271322
- UMLS ID
- C0752121
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2.
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