" /> Spinocerebellar ataxia type 5 - CISMeF





Preferred Label : Spinocerebellar ataxia type 5;

ICD-11 definition : Spinocerebellar ataxia type 5 is a rare subtype of autosomal dominant cerebellar ataxia type 3, characterized 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.;

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Spinocerebellar ataxia type 5 is a rare subtype of autosomal dominant cerebellar ataxia type 3, characterized 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.

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05/06/2024


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