Diagnosing dopamine-responsive dystonias.

@article{Malek2015DiagnosingDD,
  title={Diagnosing dopamine-responsive dystonias.},
  author={Naveed M. Malek and Nicholas A. Fletcher and Edward J Newman},
  journal={Practical neurology},
  year={2015},
  volume={15 5},
  pages={340-5}
}
The clinical spectrum of dopamine-responsive dystonias (DRDs) has expanded over the last decade to comprise several distinct disorders. At the milder end of the clinical spectrum is the autosomal-dominant guanosine triphosphate cyclohydrolase deficiency syndrome (GTPCH-DRD), and at the more severe end is the much less common autosomal recessive tyrosine hydroxylase deficiency syndrome (TH-DRD), with intermediate forms in between. Understanding the pathophysiology of DRDs can help in their… CONTINUE READING
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