spinocerebellar ataxia type 11
Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs
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Summary
spinocerebellar ataxia type 11 is a rare disease[1]. It is known by 4 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: spinocerebellar ataxia[4], autosomal dominant cerebellar ataxia type III[5], developmental defect during embryogenesis[6]
- Prevalence: 0.000001[7]
- Genetic association: TTBK2[8]
- Age of onset: juvenile onset[9], adult onset[10], childhood onset[11], late onset[12]
- Exact match: http://purl.obolibrary.org/obo/DOID_0050961[13], http://identifiers.org/doid/DOID:0050961[14], http://www.orpha.net/ORDO/Orphanet_98767[15]
- On focus list of Wikimedia project: WikiProject Medicine[16]
- Has phenotype: gait abnormality[17], dysphagia[18], Q141815143[19], dystonia[20], pyramidal sign[21], peripheral neuropathy[22]
- P14914: D98767[23]