Spinocerebellar ataxia type 5 (Q101079): Difference between revisions
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Ataxia espinocerebelar tipo 5 (SCA5) é um subtipo raro de ataxia cerebelar autossômica dominante tipo 3, caracterizado por início precoce de sinais cerebelares e anormalidades do movimento ocular com uma progressão muito lenta da doença (duração de doença de mais de 30 anos). Ocorre devido a mutação no gene SPTBN2. | |||
| description / en | description / en | ||
Spinocerebellar ataxia type 5 is a rare subtype of autosomal dominant cerebellar ataxia type 3, characterised by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression (disease duration of more than 30 years). It is due to a mutation in the SPTBN2 gene. | |||
Revision as of 17:52, 16 August 2026
Spinocerebellar ataxia type 5 is a rare subtype of autosomal dominant cerebellar ataxia type 3, characterised by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression (disease duration of more than 30 years). It is due to a mutation in the SPTBN2 gene.
| Language | Label | Description | Also known as |
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| default for all languages | ID_78905851 |
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| English | Spinocerebellar ataxia type 5 |
Spinocerebellar ataxia type 5 is a rare subtype of autosomal dominant cerebellar ataxia type 3, characterised by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression (disease duration of more than 30 years). It is due to a mutation in the SPTBN2 gene. |
