Autosomal recessive idiopathic torsion dystonia in a kindred of mixed ancestry.
A family with idiopathic torsion dystonia (dystonia musculorum deformans) was seen in a peripheral clinic in the Richtersveld in the north-western Cape. This rare inherited form of neurological disease has maximal prevalence in individuals of Ashkenazi Jewish ancestry, and there is controversy regarding the exact mode of inheritance. The kindred documented in this study was of mixed ancestry (Cape Coloured), and autosomal recessive inheritance was suggested by the finding of affected male and female siblings born to normal parents in an isolated inbred community.
D000293:Adolescent; D000328:Adult; D044383:Black People; D002648:Child; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D013019:South Africa