- Case report
- Open Access
Lessons I have learned from my patients: everyday life with primary orthostatic tremor
© The Author(s). 2016
- Received: 11 August 2016
- Accepted: 5 December 2016
- Published: 12 January 2017
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.
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.
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.
- Deep Brain Stimulation
- Chronic Fatigue Syndrome
- Social Phobia
- Standing Position
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) , 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 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 orthostatic tremor is a 13–18 Hz tremor in the lower limb muscles (and sometimes the trunk) in the standing position [1–4].
A 46-year-old lady was diagnosed with “primary orthostatic tremor” after 10 years of undiagnosed symptoms: she complained of fatigue, stiffness of the legs, fear of falling and feelings of instability. Her first symptoms occurred when she had to stand still for an unusually long time (she was a singer in an amateur choir). Over time, three general practitioners examined her, and the proposed diagnoses were depression, chronic fatigue syndrome, and functional disorders, for which she was prescribed antidepressant therapy without any beneficial effect. Eventually, based on the description of her clinical symptoms, a neurologist suspected the diagnosis of POT when she mentioned that the symptoms occurred in the standing position. Neurological examination was normal, however, in a prolonged standing position, the neurologist observed fast trembling of the hem of her skirt, revealing her leg and thigh orthostatic tremor. Electrophysiological assessment confirmed the diagnosis of POT (frequency: 17Hz) Gabapentin (up to 300 mg/day) was not well tolerated. Clonazepam (3 mg/day) was prescribed with a partial benefit (initial subjective improvement of 50% in daily life) and was increased up to 4 mg/day according to the patient’s needs.
Although the patient further increased the dose of clonazepam up to 4.5 mg/day (higher doses were not tolerated due to drowsiness), she reported that the duration of standing position without support decreased progressively over the following 5 years, with an important impact on her every day life. Here is the description of everyday life with POT by the patient: “Each morning presented numerous obstacles: I have to sit to take a shower and wash my hair; I could not use the hairdryer standing in front of the mirror and I hastily brush my teeth and put on her makeup; I have to put on my trousers while seated. Cooking breakfast was not without its challenges either: I constantly have to lean on the surroundings while washing the dishes, and I am afraid to use a stool to put away her dishes in a high cupboard. Then, I race to the metro. One particular morning, I felt very uncomfortable standing in a compact crowd and asked a fellow passenger for a seat. The passenger looked very annoyed and muttered “you are not disabled!”, and I felt ashamed. My work environment is also full of uncomfortable moments in which standing is hard to avoid, such as taking the elevator, making copies at the copy machine, and long lines in the cafeteria. I would deliberately avoid friends to skip long conversations in the standing position, which elicited quizzical looks: “maybe she isn’t in a good mood?”, they would think. When I went back to my desk, I felt exhausted although it was only mid-day. In the evening, shopping at the grocery was a nightmare, especially standing in line at the cashier. I would skip chorale rehearsal, as it was too tiring to remain standing. Moreover, my family did not understand why I was so sad, depressed, anxious, and “phobic” about many activities, such as going out, visiting exhibitions, etc. I feel stigmatized by an invisible disease, and I have progressively lost my self-esteem; I had the impression of being misunderstood and that people were not taking my troubles seriously. The diagnosis was a relief. At last, I could explain my troubles in simple words. Eventually, I have joined the patient’s association in order to increase the awareness of people and doctors.
Characteristics of primary orthostatic tremor
Non motor features
Electrophysiological & neuro-imaging findings
Lower body tremor activated on standing position
Fear of falling
Tremor frequency 13–18 Hz (high inter-muscular coherence)
Tremor absent when sitting and lying
Brain neuroimaging (MRI) normal range
Primarily affects the legs and trunk
(Tremor may be observed in the shoulders/arms while the patient is presses the hands on a table to support himself/herself)
Normal DAT scan
Cerebello-thalamocortical structural and functional abnormalities
Unsteadiness while standing
Urge to search support to feel stable
Worsening over time (same tremor frequency, increased amplitude)
Arm postural tremor (6–8Hz)
Alteration of attention, executive function, visuospatial ability, & visual memory (>60 y.o.)
Additional file 1: Video S1. The “hem sign”: fast trembling of the hem of the skirt, revealing legs and thighs orthostatic tremor. (MP4 507 kb)
Treatment options in primary orthostatic tremor
Reported clinical effect
0.5 mg- 6 mg /day
Moderate to marked benefit in 50 to 30% of the patients
Moderate to marked benefit
Little effect of POT. May improve arm postural tremor
No effect, poor tolerance
Rare cases (short term benefit)b
Antiepileptic drugs (valproic acid, phenobarbital, carbamazepine, levetiracetam, topiramate, pregabalin)
Minimal to no effect
Few cases. No prolonged treatments
cDeep Brain stimulation
Spinal cord stimulation
Rare cases. Variable results. Some increase in time in the upright position.
Botulinum toxin (tibial anterior)
No beneficial effect
Secondary orthostatic tremors
Associated clinical features neuro-imaging abnormalities
Parkinsonism, gait difficulty, postural instability
Slow 6–7 Hz tremor
Truncal ataxia, cranial nerve involvement
Fast orthostatic tremor (15 Hz)
Pontine lesions/midbrain lesions
Broad based ataxic gait, cerebellar tremor, dysmetria, speech involvement, saccadic pursuit, dysmetria of saccades
From fast 14–15 Hz tremor to the lower range of OT (13 Hz tremor)
Cerebellar degeneration, Spino-cerebellar ataxia (genetic, e.g. SCA2)
Ataxia, sensory disturbances, pyramidal signs, relapsing remitting/progressive
Very slow 4 Hz tremor
Postural instability, urinary symptoms
Spinal cord lesion
Sensory disturbances, mild weakness of the upper limbs, postural tremor
Neuropathy (IgG and IgA gammapathy or polyradiculopathy, paraneoplasic disorders
Overall, careful clinical history and clinical examination, may helpneurologists and non neurologists to detect patients with POT, who were misdiagnosed and did not receive adequate treatments and attention.
The authors thank APTES (patient’s association for POT and essential tremor) for their support. We thank Dr Eric Moulton for his helpful scientific and editorial comments (English native).
The author reports no sources of funding.
The fist author has made the initial draft and final revisions of the manuscript. LM, ER, CG provided scientific review of the manuscript. All authors read and approved the final manuscript.
Financial disclosures for the previous 12 months: the authors have no conflict of interest related to the paper.
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