Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 1999 Sep;14(5):709-15.
doi: 10.1002/1531-8257(199909)14:5<709::aid-mds1001>3.0.co;2-t.

Dopa-responsive dystonia: recent advances and remaining issues to be addressed

Y Furukawa, S J Kish
Review

Dopa-responsive dystonia: recent advances and remaining issues to be addressed

Y Furukawa et al. Mov Disord. 1999 Sep.

Abstract

It is evident from this review that there is much that we know and much that we still do not know about DRD. In terms of diagnosis and clinical management, there is general agreement that patients with childhood-onset dystonic symptoms of unknown etiology should be treated initially with levodopa with the later addition, if necessary, of other medications (for example, BH4, 5-hydroxytryptophan). Although the results of molecular genetic and CSF studies are, at this time, unlikely to significantly alter clinical management of the patient, these analyses could be useful in providing information on prognosis (that is, DRD versus progressive neurodegenerative disorders or more severe metabolic disorders). It is also clear that notwithstanding the discovery of GCH1 and hTH mutations responsible for DRD, there remain many important unresolved issues regarding this disorder, including questions of female predominance, phenotypic heterogeneity, and presence of childhood-onset dystonia versus the expected parkinsonism resulting from a striatal DA deficit. We are confident that answers to these interesting questions on DRD will, in addition to providing clarification of the mechanisms of this disorder, provide exciting information relating to the pathogenesis of other types of dystonia as well as PD and to long-standing issues regarding a role of DA and serotonin in normal human brain development.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

LinkOut - more resources