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

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.

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

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.

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.

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