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Neurological rarities
Dopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant
  1. Míriam Carvalho Soares1,2,
  2. Jacy Bezerra Parmera2,
  3. Marcos Eugênio Ramalho Bezerra1,
  4. Rubens Gisbert Cury2
  1. 1 Department of Neurology, Hospital das Clínicas, Federal University of Pernambuco, Recife, Brazil
  2. 2 Department of Neurology, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil
  1. Correspondence to Dr Míriam Carvalho Soares, Department of Neurology, Hospital das Clínicas, Federal University of Pernambuco, Brazil, Recife, Brazil; miriamcarvalhosoares{at}icloud.com

Abstract

An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25 mg of levodopa two times per day substantially improved his motor features and quality of life. Laboratory investigations and MR scans of the brain were unremarkable. Whole-exome sequencing identified a pathogenic variant in the ATP1A3 gene. The ATP1A3-spectrum disorders include non-classical phenotypes such as paroxysmal dystonic attacks. A response to dopamine response is unusual in these disorders. This case highlights the importance of levodopa trials in early-onset dystonia cases.

  • DYSTONIA
  • PAROXYSMAL DISORDER
  • GENETICS

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

https://doi.org/10.1136/pn-2023-004045

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as online supplemental information.

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    Footnotes

    • X @JacyParmera

    • Contributors MCS: conception, design of the study, drafting of the manuscript, critical revision and approval of the final version of the manuscript. MERB: conception, study design, critical revision and approval of the final version of the manuscript. JBP: conception, design of the study, drafting of the manuscript, critical revision and approval of the final version of the manuscript. RGC: design of the study, critical revision and approval of the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned. Externally peer reviewed by Tom Warner, London, UK.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.