Dopamine-responsive Dystonia

Dopamine-responsive dystonia (DRD), also known as hereditary progressive dystonia with diurnal fluctuation, Segawa's disease, or Segawa's dystonia, is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years (variable start age).

Characteristic symptoms are increased muscle tone (dystonia, such as clubfoot) and Parkinsonian features, typically absent in the morning or after rest but worsening during the day and with exertion. Children with DRD are often misdiagnosed as having cerebral palsy. The disorder responds well to treatment with levodopa.

Read more about Dopamine-responsive Dystonia:  Symptoms, Genetics and Disease Mechanism, Diagnosis, History, Additional Notes, Contact Information, External Links

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Dopamine-responsive Dystonia - External Links
... GeneReview/NCBI/NIH/UW entry on GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia GeneReview/NCBI/NIH/UW entry on Tyrosine Hydroxylase Deficiency ...