Abstract
Dopa-responsive dystonia (DRD) has a classic presentation of childhood or adolescent-onset dystonia, mild parkinsonism, marked diurnal fluctuations, improvement with sleep or rest, and a dramatic and sustained response to low doses of L-dopa without motor fluctuations or dyskinesias. However, there have been many papers on patients with a wide range of features, which report them as DRD mainly because they had dystonic syndromes with L-dopa responsiveness. Many mutations in the dopaminergic system have been found as molecular genetic defects. Therefore, the clinical and genetic spectra of DRD are unclear, which lead to difficulties in diagnostic work-ups and planning treatments. We propose the concept of DRD and DRD-plus to clarify the confusion in this area and to help understand the pathophysiology and clinical features, which will help in guiding diagnostic investigations and planning treatments. We critically reviewed the literature on atypical cases and discussed the limitations of the gene study.Electronic supplementary materialThe online version of this article (doi:10.1007/s11910-014-0461-9) contains supplementary material, which is available to authorized users.
Highlights
Dopa-responsive dystonia (DRD) was first recognized by Segawa et al in 1972 [1]
We suggested that this concept is useful in allowing for a diagnosis of DRD without requiring proof of gene mutations, which is not practical and may not be possible in some cases, and in the systematic planning of the clinical and laboratory evaluation of patients who have some features of DRD but who have features that have not been reported or are unexpected in DRD
We predicted that the dichotomy might not always be rigid concerning the causative mutation because the same gene mutation may present as DRD or DRD-plus depending on the degree of the enzymatic deficiency
Summary
Electronic supplementary material The online version of this article (doi:10.1007/s11910-014-0461-9) contains supplementary material, which is available to authorized users.
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