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Atypical presentation of rapid-onset dystonia–parkinsonism in a toddler with a novel mutation in the ATP1A3 gene
  1. Aishwarya Ganesh1,
  2. Samyuktha Sivakumar1,
  3. RanjithKumar Manokaran2 and
  4. Udayakumar Narasimhan3
  1. 1Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  2. 2Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  3. 3Head of Developmental Paediatrics, Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  1. Correspondence to Dr RanjithKumar Manokaran; doct.ranjith{at}gmail.com

Abstract

ATP1A3 gene mutations can result in a spectrum of diseases with diverse neurological manifestations. One such disorder linked to this mutation is rapid-onset dystonia–parkinsonism (RDP), which manifests as dystonia with features of parkinsonism, such as tremors, rigidity, muscle spasms, and bulbar symptoms. Affected patients are typically adolescents or young adults, with symptoms occurring in a rostrocaudal pattern. We report a unique case of a 2-year-old child with an early onset, atypical presentation of RDP. In addition to motor developmental delay, he presented with muscle rigidity and mild asymmetric dystonia of the limbs, with the lower limbs being more affected than the upper limbs. Genetic sequencing of the child revealed a novel heterozygous autosomal dominant mutation of ATP1A3 gene c.173A>G (p. Tyr58Cys). This report highlights that RDP can present with atypical presentations in the paediatric population and adds to existing medical literature on the clinical spectrum of ATP1A3 genetic channelopathy.

  • movement disorders (other than parkinsons)
  • neuro genetics
  • neuromuscular disease
  • genetic screening / counselling
  • developmental paediatrocs

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Footnotes

  • Contributors AG contributed to the design, drafting and critical revision of the article. SS contributed to the design, drafting and critical revision of the article. RKM was responsible for the diagnosis and management of the case, and contributed to the conception, critical revision and final approval of the article. UN contributed to the diagnosis, critical revision and final approval of the article.

  • 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.

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