The Conundrum of Dystonia in Essential Tremor Patients: How does One Classify these Cases?

Wenqin Du, Peter G. Bain, Giovanni Defazio, Joseph Jankovic, Christine Y. Kim, E. K. Tan, Marie Vidailhet, Elan D. Louis

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Background: The relationship between essential tremor (ET) and dystonia has been long debated and the boundaries between these disorders remain unclear. Here, we highlight the diagnostic uncertainty that can arise when observing dystonic postures in patients who have received ET diagnoses. Methods: An international panel of seven movement disorders neurologists from five countries reviewed the clinical history and videotaped neurological examinations of five individuals diagnosed with ET who also had various features of dystonia on neurological examination. Experts were instructed to assign diagnoses and provide their rationale for diagnostic assignments. Results: The five cases each exhibited a variety of abnormal postures. These were observed by all experts, and interpreted as dystonic postures by six experts. According to six of seven experts, all five cases had ET. One expert classified all cases as dystonic tremor rather than ET. One case had cervical dystonia, and five of seven experts assigned dual diagnoses of ET and dystonia in that case. The assignment of dystonia diagnoses was variable among the other four cases, with two to three experts assigning this diagnosis in each case, underscoring differences in diagnostic interpretation of dystonic postures on examination. Conclusions: This study draws attention to some of the differences between experts in assigning diagnoses of ET or dystonia to individuals with ET and abnormal postures. The goal here was not necessarily to build consensus, but to raise issues, highlight areas of uncertainty, and identify areas of common vs. differentiated thought. Several questions for additional research were also raised.

Original languageEnglish (US)
Article number15
JournalTremor and Other Hyperkinetic Movements
Volume12
Issue number1
DOIs
StatePublished - 2022

Keywords

  • classification
  • diagnosis
  • dystonia
  • essential tremor

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Medicine(all)

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