Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Spinocerebellar ataxia type 19/22

Orpha number ORPHA98772
Synonym(s) SCA19/22
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
ICD-10
  • G11
ICD-O -
OMIM
UMLS
  • C1846367
MeSH
  • C537198
MedDRA -
SNOMED CT -

Summary

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.

Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date.

SCA19 presents in the 3rd decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 (see this term) overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years.

Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified.

Prognosis is good. SCA19 does not impact life expectancy to any major extent, and some patients live to over 80 years of age.

Expert reviewer(s)

  • Dr Shinsuke FUJIOKA
  • Dr N WHALEY
  • Dr Zbigniew WSZOLEK

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Review article
  • EN (2011)
Clinical genetics review
  • EN (2014)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.