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Review
. 2014 Jul;14(7):461.
doi: 10.1007/s11910-014-0461-9.

Clinical spectrum of dopa-responsive dystonia and related disorders

Woong-Woo Lee  1 , Beom Seok Jeon
Affiliations
Review

Clinical spectrum of dopa-responsive dystonia and related disorders

Woong-Woo Lee et al. Curr Neurol Neurosci Rep. 2014 Jul.

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.

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Conflict of interest statement

Woong-Woo Lee and Beom Seok Jeon declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Dopamine biosynthetic pathway
Fig. 2
Fig. 2
Diagnostic flow for dopa-responsive dystonia and related disorders
See this image and copyright information in PMC

References

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