Orphanet: Spinocerebellar ataxia type 13

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Spinocerebellar ataxia type 13

Disease definition

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

ORPHA:98768

Classification level: Disorder

Synonym(s):
- SCA13
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Adult
ICD-10: G11.2
ICD-11: 8A03.16
OMIM: 605259
UMLS: C1854488
MeSH: C537195
GARD: 9611
MedDRA: -

Summary

Epidemiology

Prevalence is unknown. Fewer than 20 cases have been reported to date.

Clinical description

SCA13 is primarily a cerebellar syndrome, but dysphagia, urinary urgency, and bradykinesia have been described in affected patients older than 50.

Etiology

Etiology SCA13 has been mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.

Prognosis

Prognosis is relatively good. Many patients live beyond 70 years of age.

Expert reviewer(s): Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

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
English (2012) - Socialstyrelsen
Svenska (2021) - Socialstyrelsen

Disease review articles

Clinical genetics review
English (2020) - GeneReviews

Clinical Outcome Assessment (COA)

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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