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Diagnosing dopamine-responsive dystonias
  1. N Malek1,
  2. N Fletcher2,
  3. E Newman1
  1. 1Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  2. 2Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK
  1. Correspondence to Dr Naveed Malek, Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow G51 4TF, UK; nmalek{at}nhs.net

Abstract

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 optimal diagnosis and management. These are conditions with the potential to be either underdiagnosed when not considered or overdiagnosed if there is an equivocal L-dopa (levo-3,4-dihydroxyphenylalanine) response. In this article, we discuss the clinical phenotypes of these disorders, and we outline how investigations can help in confirming the diagnosis.

  • DYSTONIA
  • MOVEMENT DISORDERS

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    Phil Smith Geraint N Fuller