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Article

Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene.

BMJ case reports - 19 Aug 2021

Ganesh Aishwarya, Sivakumar Samyuktha, Manokaran RanjithKumar, Narasimhan Udayakumar

Abstract excerpt

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...

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Identifiers

PMID: 34413044
DOI: 10.1136/bcr-2021-244152
PMCID: PMC8378372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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