Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins.
case_report · Level V
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Abstract
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
Medical subject headings
- Dihydroxyphenylalanine
- Diseases in Twins
- Dystonic Disorders
- GTP Cyclohydrolase
- Twins, Monozygotic