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Spinocerebellar ataxia type 23
Disease definition
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
ORPHA:101108
Classification level: DisorderSummary
Epidemiology
This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years.
Clinical description
The clinical features, head magnetic resonance imaging (MRI), and neuropathological findings are indistinguishable from other SCA subtypes.
Etiology
SCA23 maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease.
Prognosis
Prognosis may be good in some cases. Disease progression can be slow. Wheelchair dependence can occur more than 20 years after symptomatic disease onset.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)
Detailed information
General public
- Article for general public
- Svenska (2021) - Socialstyrelsen
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis
- Clinical genetics review
- English (2022) - GeneReviews


Additional information