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Spinocerebellar ataxia type 29
rareSpinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
- Identifiers
- MONDO:0007298 OMIM:117360Orphanet:208513
- Causal genes
- ITPR1
- Also known as
- ACV · cerebellar ataxia early-onset nonprogressive · congenital nonprogressive spinocerebellar ataxia · SCA29 · spinocerebellar ataxia 29
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