Abstract
Dopa-responsive dystonia (DRD) related to GCH1 mutation is a movement disorder. An autosomal dominant mutation in the GCH1 gene is the most common cause of DRD. DRD is majorly characterized by dystonia and also, it may have different clinical presentation. Dystonia in DRD commonly has a typical phenotype that presents with lower limb onset and subsequently generalizes. Patients with DRD have a dramatic positive response to levodopa.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
