Identifying the Diagnostic Challenges and Indicators of Orthostatic Tremor: Patient Perspectives.

Background: The diagnosis of orthostatic tremor (OT) is challenging because of its non-specific symptoms and a broad range of differential diagnosis, resulting in a complex and lengthy diagnostic journey.

Objective: The aim was to assess the diagnostic delay in OT and to identify key clinical indicators as reported by patients.

Methods: In 2019, the American OT community developed and distributed a web-based survey titled "Symptoms and Diagnosis of Orthostatic Tremor (OT)." The survey included questions on demographics, the diagnostic process, and symptomatology.

Results: An international cohort of 360 OT patients participated in the study, of which 147 with electromyography (EMG)-confirmed and 213 symptom-based OT. In the EMG-confirmed OT group, respondents reported an average diagnostic delay of 7.4 (±8.5) years on average, attributed to delays at both the patient and physician level. A diagnosis was made by a movement disorders specialist in 75 (51.0%) of 147 cases. Misdiagnosis initially occurred in 57 (38.8%) of 147 patients, whereas 49 (33.3%) of 147 patients suspected OT before receiving a formal diagnosis. OT was commonly reported a progressive condition. The most frequent symptoms on standing that prompted patients to seek medical attention included: "shakiness/tremors in both legs" (92.5%), "feelings of unsteadiness or imbalance" (75.5%), "toe curling" (61.9%), and the "feeling of falling while standing" (45.6%). Notably, 70.0% of respondents reported experiencing anxiety at least occasionally. These findings closely align with the findings of the symptom-based OT group.

Conclusion: This study underscores a significant diagnostic delay in OT and identifies key clinical indicators, which could facilitate earlier diagnosis.