Tremor and Other Hyperkinetic Movements最新文献

Background: Myorhythmia is a <4 Hz oscillatory movement disorder that has been variably described as synchronous or asynchronous between body parts and as jerky or rhythmic in appearance, but there is no published report of quantitative motion analysis.

Methods: A 51-year-old woman developed disabling myorhythmia in the head and upper limbs (right>left) approximately three months after a relapse of multiple sclerosis in her brainstem and cerebellum. Head and bilateral hand motion was recorded at rest and during posture with triaxial accelerometers and gyroscopic transducers. Recordings were analyzed with spectral power and coherence analyses. Frequency variability was quantified as half-power spectral bandwidth and interquartile range of cycle-to-cycle frequency change. Waveform deviation from sinusoidality was quantified as total harmonic distortion.

Results: The 2.5-3.2 Hz head and hand oscillations exhibited narrow frequency bandwidths (≤0.21 Hz) and interquartile frequency changes (≤0.38 Hz). Amplitude fluctuated greatly, but head and hand oscillations were intermittently synchronous (coherence 0.8-1.0). Waveform was not perfectly sinusoidal and varied with the transducer.

Conclusions: This is the first quantitative demonstration of very high rhythmicity and nearly perfect coherence of myorhythmia between different body parts, consistent with the classification of myorhythmia as a form of tremor. Limitations of the quantitative methods are discussed.

Background: Essential tremor (ET) can impact daily activities and quality of life. Transcutaneous peripheral nerve stimulation (TPNS) modulates the central tremor network and can reduce tremor. We report a pilot study with a novel TPNS device.

Methods: In this prospective, open-label study, ET patients underwent tremor evaluation and device fitting in the clinic, then used the system at home during waking hours for 7 to 10 days. Efficacy outcomes were the change from baseline to follow-up in The Essential Tremor Rating Assessment Scale (TETRAS) Performance Subscale (PS) for upper limbs, the TETRAS Activities of Daily Living (ADL) Subscale, the modified ADL (mADL) Score, and the Patient and Clinician Global Impression of Improvement questionnaires (PGI-I, CGI-I). Safety was also assessed.

Results: In the 17 patients with evaluable data, the dominant-hand PS improved from 14.1 at baseline to 11.4 at follow-up (p = 0.0002); the ADL and mADL improved from 29.9 to 20.7 and 34.8 to 24.8, respectively (both p < 0.001). Improvement was reported for 82% of patients on both the PGI-I and CGI-I. A skin reaction in one patient with adhesive allergy was the only adverse event.

Discussion: AI-controlled TPNS shows promise as a safe and effective treatment option for ET patients.

Highlights: In an uncontrolled pilot study, an AI-controlled transcutaneous peripheral nerve stimulation device was worn continuously during waking hours for 7 to 10 days by patients with essential tremor. Tremor statistically significantly decreased as measured by TETRAS subscales and Global Impression of Improvement questionnaires, and side effects were negligible.

Background: Essential Tremor (ET) is increasingly recognized as phenotypically heterogeneous disorder, which may encompass alterations in gait, balance and cognitive dysfunction. Disruption in cerebellar-thalamic-cortical circuits results in varying patterns of executive and memory dysfunction and balance disorders. The current study proposed two aims: 1) identify cognitive subtypes within individuals with essential tremor, and 2) examine for a correlation between these subtypes and gait and balance dysfunction. We hypothesize that gait and balance dysfunction are more common in individuals with ET who demonstrate greater cognitive difficulties.

Methods: Seventy-one individuals underwent neuropsychological and physical therapy examinations as part of presurgical deep brain stimulation (DBS) evaluations that included measures of gait and balance (Mini-BESTest; Timed Up and Go, SARA). People with ET were categorized into Cognitively Normal (N = 29), Low Executive Function/Processing Speed (N = 17), and Low Memory Multi-domain groups (N = 25).

Results: Regression analyses show that scores on the Mini-Balance Evaluation Systems Test and Scale for the Assessment and Rating of Ataxia were worse in the Low Memory and Low Executive Function groups compared to the cognitively normal group; age was also a significant predictor. Scores on the Timed Up and Go were worse for the Low Executive Function compared to the cognitive normal group; age and education were also significant predictors. Medication use was not associated with any of the clinical gait and balance tests. However, medication use and age were significant predictors of reported falls in daily life.

Conclusions: A subset of individuals with ET experience cognitive dysfunction that coalesce into processing speed deficits or immediate memory deficits. These cognitive subtypes were associated with greater difficulty in balance and gait as compared to cognitively normal ET patient and this difference could not be accounted for by medications.

Background: Essential tremor (ET) presents therapeutic challenges as oral therapies, are often partially effective and carry adverse effects. Deep Brain Stimulation and High-intensity Focused Ultrasound targeting the ventral intermediate thalamic nucleus show efficacy in managing ET; however, their cost and invasiveness deter some patients. Botulinum toxin infiltrations for ET in the upper limbs have been limited by adverse effects. Most studies used manual or electromyography guidance, while ultrasound guidance has been less explored. The purpose of the present study was to investigate the potential long-term improvement in tremor and quality of life among ET patients following ultrasound-guided IncobotulinumtoxinA (IncoBoNT) infiltrations.

Methods: We present 18 ET patients who received IncoBoNT injections guided by ultrasounds. We also propose an anatomo-physiological paradigm for targeting muscles in ET patients based on two different tremor patterns.

Results: Eighteen ET patients (mean age 68.2 years) were followed over 12 months. After 36 weeks, patients with supination/pronation (SPP) and flexion/extension (FEP) patterns showed significant TETRAS score improvements: 46.4% in SPP (p = 0.0022) and 48.2% in FEP (p = 0.0021). The QUEST-QOL score also improved (65% in SPP, p = 0.0018; 62.7% in FEP, p = 0.0018). All patients presented notable improvements in mean scores on the self-evaluating spiral test and neurophysiological measures (p < 0.01 for all). Treatment effects lasted 8-12 weeks, with temporary numbness and pain reported, and no cumulative effects observed.

Discussion: Ultrasound-guided IncoBoNT infiltrations show promise for oral treatment-resistant ET patients with minimal adverse effects. The anatomophysiological paradigm utilized proved beneficial for our patients, although tremor pattern variability remains a consideration.

Highlights: Essential tremor patients often face limited options, as oral therapies often yield only partial efficacy, and invasive interventions, like Deep Brain Stimulation, may not always be viable. In this open-label study, 18 patients received ultrasound-guided IncobotulinumtoxinA injections, showing significant tremor improvement and enhanced quality of life, with minimal adverse events reported.

Background: It is unclear which muscles contribute most to tremor and should therefore be targeted by tremor suppression methods. Previous studies used mathematical models to investigate how upper-limb biomechanics affect muscles' potential to generate tremor. These investigations yielded principles, but the models included at most only 15 muscles. Here we expand previous models to include 50 upper-limb muscles, simulate tremor propagation, and test the validity of the previously postulated principles.

Methods: Tremor propagation was characterized using the gains between tremorogenic neural drive to the 50 muscles (inputs) and tremulous joint rotations in the 7 joint degrees-of-freedom (DOF) from shoulder to wrist (outputs). Each gain can be interpreted as the potential of a muscle to generate tremor in a DOF. Robustness and sensitivity analyses were performed to assess the effects of model parameter variability on gains.

Results: Simulations of postural tremor using the expanded model confirmed the previously postulated principles and revealed new insights, including: 1) most of the muscles with the largest gains were among the 15 muscles in the original model; 2) some gains depended strongly on posture; 3) averaged across the postures included in this study, the largest gains belonged to input-output pairs involving biceps/forearm/wrist muscles and forearm/wrist DOF, 4) although some shoulder and extrinsic hand muscles also exhibited large gains, especially in select postures.

Discussion: These observations suggest that in the absence of additional information (such as tremorogenic neural drive to muscles), peripheral tremor suppression efforts should start by targeting biceps/forearm/wrist muscles or forearm/wrist DOF.

Background: Diaphragmatic flutter is an unusual movement disorder characterized by involuntary and repetitive contractions of the diaphragm. The pathophysiology is unclear. Its treatment is very difficult and challenging.

Case report: A 70-year-old man presented with diaphragmatic flutter associated with severe abdominal pain in a sitting position, which stopped in a supine position. Videofluoroscopy clearly depicted diaphragmatic movements on postural change. A spine correction belt was effective for stopping diaphragmatic flutter.

Discussion: This is the first reported case of diaphragmatic flutter for which a spine correction belt was used as successful and safe treatment.

Highlights: Diaphragmatic flutter is an unusual movement disorder of the diaphragm. We describe a 70-year-old man who presented with diaphragmatic flutter associated with severe pain in a sitting position, which stopped in a supine position. A spine correction belt was used as successful and safe treatment for diaphragmatic flutter.

Background: Sydenham chorea, a rare neurological manifestation of acute rheumatic fever, persists in developed countries due to rheumatogenic strains of group A streptococcus.

Phenomenology shown: This case demonstrates the evolution from subtle early symptoms to definitive severe choreiform movements in Sydenham chorea in a 10-year-old female.

Educational value: This case highlights the importance of early recognition, multidisciplinary management, and vigilance in medication administration to optimize outcomes in rare conditions such as Sydenham chorea.

Highlights: This case highlights the diagnostic and management challenges of Sydenham chorea, showcasing its progression from subtle early symptoms to definitive severe choreiform movements. It demonstrates the importance of early recognition, multidisciplinary care, and cautious medication administration to optimize outcomes in this rare neurological condition associated with rheumatic fever.

Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.

Phenomenology shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.

Educational value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.

Highlights: Ataxia-telangiectasia is a rare genetic disorder characterized by its eponymous features, progressive cerebellar ataxia and ocular telangiectasias. These signs can help in establishing an early diagnosis, hence preventing, or addressing secondary complications of the disease caused by impaired DNA repair, such as malignancies, immunodeficiency, and increased radiation sensitivity.

Background: Despite efforts to visualize all the movements of tongue and oropharynx in individuals with focal movement disorders (specifically tardive dyskinesia (TD)), clinicians can miss the complete picture and additional tools may be required to reach an accurate diagnosis.

Cases: We present three cases with TD where ultrasound assisted in diagnoses. These individuals had difficulty swallowing and abnormal sensations in the tongue, which remained undiagnosed until we performed ultrasound of oropharynx which allowed for characterization of these movements.

Discussion: Ultrasound is an ideal modality for imaging the tongue and oropharynx in TD. Further research should include large case series and standardized protocols for evaluation of these disorders.

Background: Myoclonus is a hyperkinetic movement with various attributable etiologies, semiologies, and treatment outcomes. To our knowledge, few studies investigated adult-onset myoclonus in an inpatient setting.

Methods: We retrospectively reviewed charts of adult inpatients with myoclonus at New York Presbyterian Brooklyn Methodist Hospital between 2011 and 2021. Data was analyzed with descriptive statistical methods to elucidate etiology-specific demographics and outcomes.

Results: 279 individuals, 56.63% female, were included in our study, aging at 70.61 + 15.76 years. More than 50% were not initially diagnosed with myoclonus by the admitting medical team, and more than 50% had 2 or more ascribable etiologies. Symptomatic myoclonus - mostly of toxic-metabolic or hypoxic-ischemic etiology - accounted for most cases. Hypoxic-ischemic etiologies had shorter durations prior to presentation and were also most resistant to treatment. Renal-associated myoclonus was most associated with asterixis, whereas stimulus-sensitive myoclonus was strongly associated with hypoxic-ischemic etiology. Mortality in-hospital was strongly associated with hypoxic-ischemic etiology and least associated with neurodegenerative and idiopathic etiologies. Treatment response rate diminished in patients who were tried on a second or third anti-seizure drug compared to those trialed on one.

Discussion: Myoclonus remains an underdiagnosed hyperkinetic movement disorder with various ascribable etiologies of varying demographic characteristics and treatment outcomes.