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Two in the hand, an essential lesson in tremor management
  1. Paul Gallagher1,
  2. Neil Archibald2,
  3. Paul Goldsmith3,
  4. David Burn4
  1. 1Specialty Trainee, Neurology Department, Newcastle General Hospital, Newcastle-upon-Tyne, UK
  2. 2Clinical Research Fellow, Clinical Ageing Research Unit, Newcastle University, Campus for Ageing and Vitality, Newcastle-upon-Tyne, UK
  3. 3Consultant Neurologist, Neurology Department, Newcastle General Hospital, Newcastle-upon-Tyne, UK
  4. 4Professor in Movement Disorder Neurology and Honorary Consultant, Clinical Ageing Research Unit, Newcastle University, Campus for Ageing and Vitality, Newcastle-upon-Tyne, UK
  1. Correspondence to Dr N Archibald, Clinical Ageing Research Unit, Newcastle University, Campus for Ageing and Vitality, Newcastle-upon-Tyne NE4 5PL, UK; neil.archibald{at}ncl.ac.uk

Abstract

Dopa responsive dystonia results from abnormalities in the dopamine synthesis pathway which produces an array of phenotypic presentations with equally numerous genotypes. First documented in children in 1971, the ‘classic’ phenotype is childhood onset, predominantly lower limb dystonia which gradually progresses to generalised dystonia. Other hallmarks of ‘classical’ dopa responsive dystonia include marked diurnal variation in symptom severity (worse in the evening), subsequent development of parkinsonism and an excellent, sustained response to levodopa. More recently, adult onset variants have been reported. Here we discuss two siblings with dopa responsive dystonia caused by a mutation in the GTP cyclohydrolase 1 gene. Both presented in adulthood with tremor rather than the ‘classic’ phenotype. A video is presented (available online) followed by a brief discussion of the literature.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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