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Spinocerebellar ataxia type 19 (disorder)
Spinocerebellar ataxia type 19
Disease with characteristics of 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 third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 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.
spinocerebellaire ataxie type 19
SCA19
Id719251009
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified