Lessons I have learned from my patients: everyday life with primary orthostatic tremor

Abstract

BackgroundPrimary 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 presentationA 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.ConclusionsWe 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s40734-016-0048-5) contains supplementary material, which is available to authorized users.

Pathogenesis of Primary Orthostatic Tremor: Current Concepts and Controversies

“…[10][11][12] Longitudinal observations have indicated that OT is a progressive disorder, 13 which may be associated with a number of non-motor symptoms such as depression and cognitive impairment. 14,15 Moreover, patients with OT have a markedly reduced quality of life. 16 Hence, the pathological underpinnings of this complex disorder need to be understood so that specific therapeutic avenues may be explored and better treatments implemented.…”

Successful Treatment of Primary Orthostatic Tremor Using Perampanel

“…While instability on standing and tremor are hallmarks of this disorder, symptoms such as fear of falling, social phobia, anxiety, and depression are also common and cause significant morbidity. 5 Due to its rare nature, there has been a dearth of well-designed randomized controlled trials. 2 Of the medications that have been trialed, clonazepam has been shown to be the most beneficial.…”

Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

“…Idiopathic PD affects approximately 0.3% of the entire general population and 1% of the general population over the age of 60 years [ 9 ]. Among the GD1 patient population, PD is estimated to be present in 4% of all patients [ 10 ]. Patients with GD1 also have a lower mean age of onset of parkinsonian symptoms relative to the general population: 48 years of age in comparison to 71 years, respectively [ 11 ].…”