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Spinocerebellar ataxia type 40
Disease definition
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
ORPHA:423275
Classification level: DisorderDetailed information
Article for general public
Professionals
- Clinical genetics review
- English (2022)
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