Spinocerebellar ataxia type 29 (Q101089): Difference between revisions
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Ataxia espinocerebelar tipo 29 é um subtipo muito raro de ataxia cerebelar autossômica dominante tipo 3, caracterizado por início na primeira infância de ataxia muito lentamente progressiva ou não progressiva, disartria, nistagmo, disdiadococinesia, distonia, dismetria e incapacidade intelectual. O gene causal ainda não foi identificado, mas está localizado no cromossoma 3p e, devido a sua proximidade com o gene relacionado a SCA15, acredita-se que ambas as doenças possam ser alélicas. | |||
| description / en | description / en | ||
Spinocerebellar ataxia type 29 is a very rare subtype of autosomal dominant cerebellar ataxia type 3 characterized by the onset during infancy of very slowly progressive or non-progressive ataxia, dysarthria, nystagmus, dysdiadochokinesia, dystonia, dysmetria and intelectual disability. The causal gene is not yet identified but is located on chromosome 3p and due to its close proximity to the SCA15 gene, it is thought that both diseases may be allelic. | |||
Revision as of 17:53, 16 August 2026
Spinocerebellar ataxia type 29 is a very rare subtype of autosomal dominant cerebellar ataxia type 3 characterized by the onset during infancy of very slowly progressive or non-progressive ataxia, dysarthria, nystagmus, dysdiadochokinesia, dystonia, dysmetria and intelectual disability. The causal gene is not yet identified but is located on chromosome 3p and due to its close proximity to the SCA15 gene, it is thought that both diseases may be allelic.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_359640365 |
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| English | Spinocerebellar ataxia type 29 |
Spinocerebellar ataxia type 29 is a very rare subtype of autosomal dominant cerebellar ataxia type 3 characterized by the onset during infancy of very slowly progressive or non-progressive ataxia, dysarthria, nystagmus, dysdiadochokinesia, dystonia, dysmetria and intelectual disability. The causal gene is not yet identified but is located on chromosome 3p and due to its close proximity to the SCA15 gene, it is thought that both diseases may be allelic. |
