spinocerebellar ataxia type 14
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
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Summary
spinocerebellar ataxia type 14 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 I[5], developmental defect during embryogenesis[6]
- Prevalence: 0.000001[7]
- Genetic association: PRKCG[8]
- Age of onset: juvenile onset[9], adult onset[10], childhood onset[11], late onset[12]
- Exact match: http://purl.obolibrary.org/obo/DOID_0050964[13], http://identifiers.org/doid/DOID:0050964[14], http://www.orpha.net/ORDO/Orphanet_98763[15]
- On focus list of Wikimedia project: WikiProject Medicine[16]
- Has phenotype: ataxia[17], Q141815055[18], Q141815138[19], Q141815456[20], Q141815625[21], Q141814995[22], dysarthria[23], myoclonus[24], tremor[25], muscle rigidity[26], Q141815199[27], hypoesthesia[28], cognitive dysfunction[29]
- P14914: D98763[30]