DOPA responsive dyskinesia

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Dopa-responsive dystonia can be caused by several monogenetic defects[1] and unhappily diagnosis can be delayed. Do not mistake for cerebral palsy. There are other primary monogenic forms of dystonia and a clinical trial of levodopa may be overlooked as these are common. Dopamine responsive dystonias include:

  • Autosomal dominant GTP cyclohydrolase-I deficiency (AD GCHI D, hereditary progressive dystonia with marked diurnal fluctuation, HPD, Segawa disease, ) due to faulty GCH1 gene - commonest cause
    • Defects in the GCH1 genes regulatory regions can also cause the condition
  • Autosomal recessive tyrosine 3-monooxygenase deficiency (Segawa syndrome, ARSEGS) due to faulty TH gene
  • Various gene deficiencies in pteridine metabolism especially in sepiapterin reductase coded by the SPR gene
  • Mutations in the PARK2 gene (parkin)

Usually the phenotype with mutations in TH or SPR genes is associated with mental retardation, oculogyric crises and parkinsonism (Dopa-responsive dystonia-plus syndromes).


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