Lessons I have learned from my patients: everyday life with primary orthostatic tremor
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CASE REPORT
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Lessons I have learned from my patients: everyday life with primary orthostatic tremor Marie Vidailhet1,2,3,4,5,8*, Emmanuel Roze1,2,3,4,5, Lucie Maugest6 and Cécile Gallea7
Abstract Background: Primary orthostatic tremor is a rare disorder that is still under-diagnosed or misdiagnosed. Motor symptoms are fairly characteristics but the real impact on the patient’s every day life and quality of life is under-estimated. The ”how my patients taught me” format describes the impact on the patients’ every day life with their own words, which is rarely done. Case presentation: A 46 year old lady was diagnosed primary orthostatic tremor (POT) based on the cardinal symptoms: feelings of instability, leg tremor and fear of falling in the standing position, improvement with walking and disappearance while sitting, frequency of Tremor in the 13–18Hz range, normal neurological examination. She gives illustrative examples of her disability in every day life activity (shower, public transportation, shopping). She reports how she felt stigmatized by her “invisible disorder”. As a consequence, she developed anxiety depression and social phobia. All these troubles are unknown or under recognized by doctors and family. Conclusions: We review the clinical signs of POT that may help to increase the awareness of doctors and improve the diagnosis accuracy, based on the motor symptoms and description of the every day life disability, as reported by the patient. Non-motor symptoms (including somatic concerns, anxiety, depression, and social phobia) should be better considered in POT as they have a major impact on quality of life. Pharmacological treatments (clonazepam, gabapentin) may be helpful but have a limited effect over the years as the patients experience a worsening of their condition. On the long term follow-up, there are still unmet needs in POT, and new therapeutic avenues may be based on the pathophysiology by modulating the cerebello-thalamo-cortical network.
Background Feelings of instability and fear of falling are frequent complaints in elderly subjects and have a strong impact on quality of life. Although these features are fairly typical of primary orthostatic tremor (POT) [1], this rare condition is likely under-diagnosed (mean delay of diagnosis = 4.5–9.6 years, range = 0–44) [2–4]. Nevertheless, this condition is relatively easy to diagnose when you listen carefully to your patients, as they often report the main clinical features: lower body tremor activated upon standing (with feelings of unsteadiness and * Correspondence: [email protected] 1 Institut National de la Santé et de la Recherche Médicale (INSERM), U 1127, F-75013 Paris, France 2 Centre National de la Recherche Scientifique (CNRS), UMR 7225, F-75013 Paris, France Full list of author information is available at the end of the article
decreased time immobile in the upright position) which is improved by walking and absent when sitting or lying down. The unique electrophysiological signature characteristic of primary ort
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