dopa-responsive dystonia


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dopa-responsive dystonia

an autosomal dominant dystonia that begins in early childhood, manifested by dystonic posture of the limbs or neck, which respond dramatically to small doses of carbidopa-levodopa.
References in periodicals archive ?
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.
Gender-related penetrance and de novo GTP cyclohydrolase I gene mutations in dopa-responsive dystonia.
High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with Dopa-responsive dystonia.
Markers of disease in dopa-responsive dystonia [Abstract].