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Pseudo-Orthostatic Tremor in Graves' Disease: A Possible Early Sign of Parkinsonism? 巴塞杜氏病的假性静止性震颤:帕金森病的可能早期征兆?
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-24 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.924
Davide Comolli, Simone Regalbuto, Sebastiano Arceri, Giuseppe Trifirò, Alessandra Calculli, Carlo Fazio, Piergiorgio Grillo, Massimiliano Todisco, Antonio Pisani

Background: Pseudo-orthostatic tremor is a hyperkinetic movement disorder usually associated with other neurological comorbidities, mainly Parkinson's disease.

Case report: A 65-year-old male presented with unsteadiness and leg tremor while standing. Electrophysiological evaluation confirmed the presence of pseudo-orthostatic tremor. Blood test showed an undiagnosed Graves' disease. A complete remission of tremor was achieved with methimazole. Dopamine transporter scintigraphy showed a mild reduction of the striatal binding, bilaterally.

Discussion: Graves' disease can be associated with pseudo-orthostatic tremor. Thyroid function should be assessed in patients complaining of unsteadiness. The causative role of hyperthyroidism in determining dopaminergic degeneration and uncovering subclinical parkinsonism warrants further investigations.

背景:假性直立性震颤是一种过度运动障碍,通常伴有其他神经系统合并症,主要是帕金森病:病例报告:一名 65 岁的男性在站立时出现站立不稳和腿部震颤。电生理评估证实其患有假性直立性震颤。血液检查显示他患有未确诊的巴塞杜氏病。使用甲巯咪唑后,震颤完全缓解。多巴胺转运体闪烁成像显示,双侧纹状体结合力轻度下降:讨论:巴塞杜氏病可伴有假性强直性震颤。主诉不稳的患者应评估甲状腺功能。甲状腺功能亢进症在决定多巴胺能变性和发现亚临床帕金森病方面的致病作用值得进一步研究。
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引用次数: 0
Horizontal Pendular Nystagmus and Ataxia Secondary to Severe Hypomagnesemia. 继发于严重低镁血症的水平垂性眼球震颤和共济失调。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-22 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.910
Marcos Polanco, María Rivera, Leire Manrique, Carmen Lage, Jon Infante

Background: Severe hypomagnesemia is an increasingly recognized cause of acute and reversible cerebellar ataxia, often accompanied by cerebellar oculomotor signs such as jerky horizontal or downbeat nystagmus and very rarely ocular flutter.

Phenomenology shown: This video illustrates horizontal pendular nystagmus in a patient with acute onset cerebellar ataxia associated with severe hypomagnesemia.

Educational value: Acquired pendular nystagmus can be distinguished from macrosaccadic oscillations and ocular flutter in that the former is composed of two slow phases of equal velocity and the latter of two fast phases of saccadic type with or without intersaccadic interval, respectively. It is most commonly associated with demyelinating, toxic, metabolic, and genetic disorders, but has not been reported in association with severe hypomagnesemia.

背景:严重的低镁血症是越来越多的人认识到的急性和可逆性小脑共济失调的病因,通常伴有小脑眼球运动症状,如生涩的水平或下垂眼球震颤,极少数情况下伴有眼球扑动:这段视频展示了一名急性小脑共济失调伴严重低镁血症患者的水平下垂性眼球震颤:后天性下垂性眼球震颤可与大视野振荡和眼扑区分开来,前者由两个等速的慢相组成,后者由两个囊状的快相组成,分别有或没有囊状间歇。它最常见于脱髓鞘疾病、中毒性疾病、代谢性疾病和遗传性疾病,但尚未见与严重低镁血症有关的报道。
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引用次数: 0
Elevated Mood Induced by Subthalamic Nucleus Deep Brain Stimulation: A Video-Recorded Case Report. 眼下核深部脑刺激引起的情绪高涨:录像病例报告
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-12 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.900
Patricia B Coutinho, Kara A Johnson, Andreea L Seritan, Nicholas B Galifianakis, Robert Coleman, Doris Wang, Caroline A Racine, Jill L Ostrem, Philip A Starr, Coralie de Hemptinne

Background: Deep brain stimulation (DBS) can be an effective therapy to control motor signs in patients with Parkinson's disease (PD). However, subthalamic nucleus (STN) DBS can induce undesirable psychiatric adverse effects, including elevated mood.

Case report: We reported a video case of a 73-year-old male implanted with bilateral STN DBS who experienced stimulation-induced elevated mood. A correlation between mood changes and enhanced activation of the ventromedial region in the left STN was observed.

Discussion: This video case report illustrates STN DBS-induced elevated mood and enhances early symptom recognition for patients and diagnostic awareness for professionals.

背景:脑深部刺激(DBS)是控制帕金森病(PD)患者运动症状的有效疗法。然而,丘脑下核(STN)DBS 可诱发不良的精神不良反应,包括情绪高涨:我们报告了一例植入双侧 STN DBS 的 73 岁男性患者的视频病例,该患者经历了刺激引起的情绪高涨。我们观察到情绪变化与左侧 STN 腹内侧区域激活增强之间存在相关性:本视频病例报告说明了 STN DBS 引起的情绪高涨,提高了患者的早期症状识别能力和专业人员的诊断意识。
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引用次数: 0
Introducing Virtual Shared Medical Appointments as a Novel Treatment Platform for Functional Movement Disorders. 将虚拟共享医疗预约作为功能性运动障碍的新型治疗平台。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-04 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.921
Saar Anis, Megan Zelinsky, Umar Shuaib, Emma Hartwig, Melissa Simpson, Hubert H Fernandez, Taylor Rush, Xin Xin Yu

The landscape of medical care has rapidly evolved with technological advancements, particularly through the widespread adoption of virtual appointments catalyzed by the COVID-19 pandemic. This shift has transcended geographical barriers, enhancing access for underserved populations and those with disabilities to specialized healthcare providers. A notable development stemming from this trend is the emergence of virtual shared medical appointments (VSMAs), which integrate group-based education with telemedicine technology. While VSMAs have demonstrated efficacy in conditions such as obesity, diabetes, and neurological disorders, their effectiveness in managing Functional Movement Disorders (FMD) is currently under investigation. FMDs pose unique challenges in diagnosis and acceptance, with high rates of misdiagnosis and treatment delays. VSMAs offer a promising solution by providing educational modules and fostering peer support among patients with similar diagnoses. At the Cleveland Clinic Center for Neurological Restoration, VSMAs have been embraced to enhance care standards for FMD patients. The program facilitates educational sessions and follow-up meetings to improve treatment adherence and psychological well-being. Early outcomes indicate increased patient acceptance and engagement, with significant program growth observed. Ongoing research aims to evaluate stakeholder perspectives and refine session content to further reduce stigma and the healthcare burden associated with FMDs.

随着技术的进步,特别是在 COVID-19 大流行病的推动下,虚拟预约的广泛采用,医疗保健的格局发生了迅速变化。这一转变超越了地理障碍,使服务不足的人群和残疾人更容易获得专业医疗服务。这一趋势带来的一个显著发展是虚拟共享医疗预约(VSMA)的出现,它将基于团体的教育与远程医疗技术相结合。虚拟共享医疗预约已在肥胖症、糖尿病和神经系统疾病等方面取得了显著疗效,但其在管理功能性运动障碍(FMD)方面的有效性目前仍在研究之中。功能性运动障碍在诊断和接受方面存在独特的挑战,误诊率和治疗延误率都很高。VSMA 通过提供教育模块和促进类似诊断患者之间的同伴支持,提供了一种很有前景的解决方案。在克利夫兰诊所神经修复中心,VSMA 已被采用来提高对 FMD 患者的护理标准。该计划为教育课程和后续会议提供便利,以提高治疗依从性和心理健康水平。早期研究结果表明,患者的接受度和参与度均有所提高,项目也有显著增长。正在进行的研究旨在评估利益相关者的观点并完善课程内容,以进一步减少与 FMD 相关的耻辱感和医疗负担。
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引用次数: 0
An Eye on the First Surgical Side: Appreciating the Potential Impacts of a Second DBS Lead on Ipsilateral Symptoms. 关注第一手术侧:了解第二个 DBS 导联对同侧症状的潜在影响。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-04 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.918
Ariane Veilleux Carpentier, Jason L Chan, Joshua K Wong, Michael S Okun

Clinical vignette: A 63-year-old man with severe essential tremor underwent staged bilateral ventralis intermedius (Vim) deep brain stimulation (DBS). Left Vim DBS resulted in improved right upper extremity tremor control. Months later, the addition of right Vim DBS to the other brain hemisphere was associated with acute worsening of the right upper extremity tremor.

Clinical dilemma: In staged bilateral Vim DBS, second lead implantation may possibly alter ipsilateral tremor control. While ipsilateral improvement is common, rarely, it can disrupt previously achieved benefit.

Clinical solution: DBS programming, including an increase in left Vim DBS amplitude, re-established and enhanced bilateral tremor control.

Gap in knowledge: The mechanisms underlying changes in ipsilateral tremor control following a second lead implantation are unknown. In this case, worsening and subsequent improvement after optimization highlight the potential impact of DBS implantation on the ipsilateral side.

Expert commentary: After staged bilateral Vim DBS, clinicians should keep an eye on the first or original DBS side and carefully monitor for emergent side effects or worsening in tremor. Ipsilateral effects resulting from DBS implantation present a reprogramming opportunity with a potential to further optimize clinical outcomes.

Highlights: This case report highlights the potential for ipsilateral tremor worsening following staged bilateral DBS and provides valuable insights into troubleshooting and reprogramming strategies. The report emphasizes the importance of vigilant monitoring and individualized management in optimizing clinical outcomes for patients undergoing staged bilateral DBS for essential tremor.

临床小故事一名患有严重本质性震颤的 63 岁男子接受了分阶段双侧腹侧中间肌(Vim)脑深部刺激(DBS)治疗。左侧 Vim DBS 使右侧上肢震颤控制得到改善。临床难题:在分期双侧 Vim DBS 中,第二次导联植入可能会改变同侧震颤控制。临床难题:在分期双侧 Vim DBS 治疗中,第二次导联植入可能会改变同侧震颤控制,同侧改善很常见,但也有极少数情况下,同侧改善会破坏之前取得的疗效:临床解决方案:DBS 编程,包括增加左侧 Vim DBS 振幅,重新建立并增强了双侧震颤控制:知识空白:第二次导联植入后同侧震颤控制发生变化的机制尚不清楚。在本病例中,病情恶化和优化后的改善凸显了 DBS 植入对同侧的潜在影响:专家评论:在分期双侧 Vim DBS 后,临床医生应密切关注第一侧或原始 DBS 侧,仔细监测是否有突发的副作用或震颤恶化。DBS 植入术导致的同侧效应提供了一个重新编程的机会,有可能进一步优化临床结果:本病例报告强调了分期双侧 DBS 后同侧震颤恶化的可能性,并为故障排除和重新编程策略提供了宝贵的见解。该报告强调了对接受分期双侧 DBS 治疗本质性震颤的患者进行警惕性监测和个体化管理以优化临床疗效的重要性。
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引用次数: 0
Validation of the International Classification of Diseases, Tenth Revision-Clinical Modification Diagnostic Code for Essential Tremor. 验证《国际疾病分类》第十版--本质性震颤的临床修正诊断代码。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-04 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.905
Susanna D Howard, Shikha Singh, Dominick Macaluso, Iahn Cajigas, Whitley W Aamodt, John T Farrar

Background: The positive predictive value (PPV) of the International Classification of Diseases, Ninth Revision-Clinical Modification (ICD-9-CM) code for "essential and other specified forms of tremor" in identifying essential tremor (ET) cases was found to be less than 50%. The ability of the ICD-10-CM G25.0 code for "essential tremor" to identify ET has not been determined. The study objective was to determine the PPV of the G25.0 code.

Methods: Patients in a tertiary health system with a primary care encounter associated with ICD-10-CM code G25.0 in 2022 underwent medical record review to determine if the consensus criteria from the International Parkinson and Movement Disorder Society for an ET diagnosis were met.

Results: 442 patients were included. The PPV of G25.0 in identifying probable ET cases was 74.7% (95% confidence interval (CI) 70.4-78.5%). Among patients prescribed propranolol, the PPV improved to 87.8% (95% CI 78.0-93.6%).

Discussion: Compared to the ICD-9-CM code 333.1, G25.0 is superior for identifying ET cases. A potential limitation of this study is that the consensus criteria applied relies on nonspecific physical exam findings which may lead to an overestimation of the PPV of G25.0.

Highlights: The ICD-10-CM diagnosis code for essential tremor has not been previously validated. The objective of this study was to determine the PPV of the G25.0 code. The PPV in identifying essential tremor cases was 74.7%. The PPV improved among patients prescribed propranolol.

背景:国际疾病分类第九版-临床修正》(ICD-9-CM)中 "本质性震颤和其他特定形式的震颤 "代码在鉴别本质性震颤(ET)病例方面的阳性预测值(PPV)低于 50%。ICD-10-CM G25.0 "本质性震颤 "代码识别 ET 的能力尚未确定。本研究旨在确定 G25.0 代码的 PPV:对 2022 年在一家三级医疗系统就诊的、与 ICD-10-CM 代码 G25.0 相关的初级保健患者进行病历审查,以确定其是否符合国际帕金森和运动障碍协会关于 ET 诊断的共识标准:结果:共纳入 442 名患者。G25.0在确定可能的ET病例方面的PPV为74.7%(95%置信区间(CI)为70.4-78.5%)。在服用普萘洛尔的患者中,PPV 提高到 87.8%(95% 置信区间 78.0-93.6%):讨论:与ICD-9-CM代码333.1相比,G25.0在识别ET病例方面更具优势。本研究的一个潜在局限是,所采用的共识标准依赖于非特异性的体格检查结果,这可能会导致高估 G25.0 的 PPV:ICD-10-CM中关于本质性震颤的诊断代码尚未经过验证。本研究旨在确定 G25.0 编码的 PPV。识别本质性震颤病例的 PPV 为 74.7%。普萘洛尔处方患者的 PPV 有所提高。
{"title":"Validation of the International Classification of Diseases, Tenth Revision-Clinical Modification Diagnostic Code for Essential Tremor.","authors":"Susanna D Howard, Shikha Singh, Dominick Macaluso, Iahn Cajigas, Whitley W Aamodt, John T Farrar","doi":"10.5334/tohm.905","DOIUrl":"10.5334/tohm.905","url":null,"abstract":"<p><strong>Background: </strong>The positive predictive value (PPV) of the <i>International Classification of Diseases, Ninth Revision-Clinical Modification</i> (ICD-9-CM) code for \"essential and other specified forms of tremor\" in identifying essential tremor (ET) cases was found to be less than 50%. The ability of the ICD-10-CM G25.0 code for \"essential tremor\" to identify ET has not been determined. The study objective was to determine the PPV of the G25.0 code.</p><p><strong>Methods: </strong>Patients in a tertiary health system with a primary care encounter associated with ICD-10-CM code G25.0 in 2022 underwent medical record review to determine if the consensus criteria from the International Parkinson and Movement Disorder Society for an ET diagnosis were met.</p><p><strong>Results: </strong>442 patients were included. The PPV of G25.0 in identifying probable ET cases was 74.7% (95% confidence interval (CI) 70.4-78.5%). Among patients prescribed propranolol, the PPV improved to 87.8% (95% CI 78.0-93.6%).</p><p><strong>Discussion: </strong>Compared to the ICD-9-CM code 333.1, G25.0 is superior for identifying ET cases. A potential limitation of this study is that the consensus criteria applied relies on nonspecific physical exam findings which may lead to an overestimation of the PPV of G25.0.</p><p><strong>Highlights: </strong>The ICD-10-CM diagnosis code for essential tremor has not been previously validated. The objective of this study was to determine the PPV of the G25.0 code. The PPV in identifying essential tremor cases was 74.7%. The PPV improved among patients prescribed propranolol.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"34"},"PeriodicalIF":2.5,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessing ChatGPT Ability to Answer Frequently Asked Questions About Essential Tremor. 评估 ChatGPT 回答有关本质性震颤的常见问题的能力。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-03 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.917
Cristiano Sorrentino, Vincenzo Canoro, Maria Russo, Caterina Giordano, Paolo Barone, Roberto Erro

Background: Large-language models (LLMs) driven by artificial intelligence allow people to engage in direct conversations about their health. The accuracy and readability of the answers provided by ChatGPT, the most famous LLM, about Essential Tremor (ET), one of the commonest movement disorders, have not yet been evaluated.

Methods: Answers given by ChatGPT to 10 questions about ET were evaluated by 5 professionals and 15 laypeople with a score ranging from 1 (poor) to 5 (excellent) in terms of clarity, relevance, accuracy (only for professionals), comprehensiveness, and overall value of the response. We further calculated the readability of the answers.

Results: ChatGPT answers received relatively positive evaluations, with median scores ranging between 4 and 5, by both groups and independently from the type of question. However, there was only moderate agreement between raters, especially in the group of professionals. Moreover, readability levels were poor for all examined answers.

Discussion: ChatGPT provided relatively accurate and relevant answers, with some variability as judged by the group of professionals suggesting that the degree of literacy about ET has influenced the ratings and, indirectly, that the quality of information provided in clinical practice is also variable. Moreover, the readability of the answer provided by ChatGPT was found to be poor. LLMs will likely play a significant role in the future; therefore, health-related content generated by these tools should be monitored.

背景:由人工智能驱动的大型语言模型(LLM)可以让人们就自己的健康进行直接对话。最著名的大型语言模型 ChatGPT 提供的有关最常见运动障碍之一的本质性震颤(ET)的答案的准确性和可读性尚未得到评估:5 位专业人士和 15 位非专业人士对 ChatGPT 回答的 10 个有关 ET 的问题进行了评估,从清晰度、相关性、准确性(仅针对专业人士)、全面性和回答的整体价值等方面给出了 1 分(差)到 5 分(优)不等的分数。我们还进一步计算了答案的可读性:结果:聊天 GPT 答案获得了相对积极的评价,中位数在 4 分至 5 分之间,由两组人打分,与问题类型无关。然而,评分者之间的一致性不高,尤其是在专业人士组中。此外,所有受检答案的可读性都较差:讨论:ChatGPT 提供了相对准确和相关的答案,但专业人士组的判断存在一定的差异,这表明对 ET 的了解程度影响了评分,并间接表明临床实践中提供的信息质量也存在差异。此外,ChatGPT 提供的答案可读性较差。LLM 在未来可能会发挥重要作用;因此,应该对这些工具生成的健康相关内容进行监测。
{"title":"Assessing ChatGPT Ability to Answer Frequently Asked Questions About Essential Tremor.","authors":"Cristiano Sorrentino, Vincenzo Canoro, Maria Russo, Caterina Giordano, Paolo Barone, Roberto Erro","doi":"10.5334/tohm.917","DOIUrl":"10.5334/tohm.917","url":null,"abstract":"<p><strong>Background: </strong>Large-language models (LLMs) driven by artificial intelligence allow people to engage in direct conversations about their health. The accuracy and readability of the answers provided by ChatGPT, the most famous LLM, about Essential Tremor (ET), one of the commonest movement disorders, have not yet been evaluated.</p><p><strong>Methods: </strong>Answers given by ChatGPT to 10 questions about ET were evaluated by 5 professionals and 15 laypeople with a score ranging from 1 (poor) to 5 (excellent) in terms of clarity, relevance, accuracy (only for professionals), comprehensiveness, and overall value of the response. We further calculated the readability of the answers.</p><p><strong>Results: </strong>ChatGPT answers received relatively positive evaluations, with median scores ranging between 4 and 5, by both groups and independently from the type of question. However, there was only moderate agreement between raters, especially in the group of professionals. Moreover, readability levels were poor for all examined answers.</p><p><strong>Discussion: </strong>ChatGPT provided relatively accurate and relevant answers, with some variability as judged by the group of professionals suggesting that the degree of literacy about ET has influenced the ratings and, indirectly, that the quality of information provided in clinical practice is also variable. Moreover, the readability of the answer provided by ChatGPT was found to be poor. LLMs will likely play a significant role in the future; therefore, health-related content generated by these tools should be monitored.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"33"},"PeriodicalIF":2.5,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Individualized Physiotherapy of Upper Body Functional Movement Disorder - Two Illustrative Cases. 上半身功能性运动障碍的个性化物理治疗--两个示例。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-06-28 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.895
Christof Degen-Plöger, Annemarie Reincke, Christina Bolte, Carl Alexander Gless, Kerstin Luedtke, Alexander Münchau, Kirsten E Zeuner, Anne Weissbach

Background: Information on specialist physiotherapeutic treatment for functional movement disorders is scarce. Previous studies focussed on functional gait disorders and availability of descriptions of the practical application especially for other body regions is very limited.

Cases: We present two illustrative cases, demonstrating the key elements of physiotherapy for the treatment of functional movement disorders beyond gait difficulties. The individual applicability of the specific core elements of physiotherapy, adapted to the individual needs of each patient, are described. We also explain, how different sensory stimuli can be used to shift attention away from symptoms and thus reduce them. Moreover, we discuss how patients' agency can be encouraged and how this results in therapy key moments, contributing to a sustained improvement of symptoms.

Conclusion: Thus, our case series are intended to guide clinicians and therapists alike, to promote disease-specific physiotherapy for this common and treatable neuropsychiatric disorder.

背景:有关功能性运动障碍的专业物理治疗的资料很少。以往的研究主要集中在功能性步态障碍方面,对实际应用的描述非常有限,尤其是对其他身体部位的描述:我们介绍了两个示例病例,展示了治疗步态障碍以外的功能性运动障碍的物理治疗关键要素。案例:我们介绍了两个案例,展示了治疗步态困难以外的功能性运动障碍的物理治疗关键要素,并介绍了物理治疗特定核心要素的个人适用性,这些要素可根据每位患者的个人需求进行调整。我们还解释了如何利用不同的感官刺激将注意力从症状上转移开,从而减轻症状。此外,我们还讨论了如何鼓励患者的主观能动性,以及这如何在治疗的关键时刻促成症状的持续改善:因此,我们的病例系列旨在为临床医生和治疗师提供指导,促进针对这一常见且可治疗的神经精神疾病的物理治疗。
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引用次数: 0
Incobotulinum Toxin-A in Professional Musicians with Focal Task-Specific Dystonia: A Double Blind, Placebo Controlled, Cross-Over Study. 对患有局灶性任务特异性肌张力障碍的专业音乐家的 Incobotulinum Toxin-A:双盲、安慰剂对照、交叉研究。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-06-27 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.903
Steven J Frucht, Mary Catherine George, Alexander Pantelyat, Eckart Altenmueller, Alexandra Nmashie, Jocelyn M Jiao, Michael Chen, David Feng, Susan Shin, Michelle C Kaku, David Simpson

Background: Musician's focal task-specific dystonia is a complex disorder of fine motor control, with incomplete understanding of its etiology. There have been relatively few trials of botulinum toxin in upper limb task-specific dystonia, and prior studies have yielded variable results, leading to skepticism regarding the utility of this approach in elite performers.

Methods: We conducted a double-blind, placebo-controlled, randomized, cross-over study of incobotulinum toxin-A in 21 professional musicians with focal upper extremity task-specific dystonia affecting performance on their instrument, using a novel paradigm of initial injections followed by booster injections at two- and four-week intervals. The primary outcome measure was the change in blinded dystonia rating of the active arm by two expert raters using a Clinical Global Impression numeric scale at week 8 compared to enrollment.

Findings: 19 men and 2 women with musicians' dystonia were enrolled over a six-year period. Nineteen patients completed the study. Analysis of the primary outcome measure in comparison to baseline revealed a change in dystonia severity of P = 0.04 and an improvement in overall musical performance of P = 0.027. No clinically significant weakness was observed, and neutralizing antibodies to toxin were not found.

Interpretation: Despite its small sample size, our study demonstrated a statistically significant benefit of incobotulinum toxin-A injections as a treatment for musicians' task-specific dystonia. Tailoring the use of toxin with booster injections allowed refinement of dosing strategy and outcomes, with benefits that were meaningful to patients clearly visible on videotaped evaluations. In addition to its application to musicians' dystonia, this approach may have relevance to optimize application of botulinum toxin in other forms of focal dystonia such as blepharospasm, cervical dystonia, writer's cramp, and spasmodic dysphonia.

背景:音乐家局灶性任务特异性肌张力障碍是一种复杂的精细运动控制障碍,其病因尚未完全明了。肉毒素治疗上肢任务特异性肌张力障碍的试验相对较少,之前的研究结果也不尽相同,导致人们对这种方法在精英表演者中的实用性持怀疑态度:我们对 21 名患有影响乐器演奏的局灶性上肢任务特异性肌张力障碍的专业音乐家进行了一项双盲、安慰剂对照、随机、交叉研究。主要研究结果是由两名专家使用临床整体印象数字量表对第8周时的活动臂肌张力障碍评分进行盲法评分,与入组时进行比较:研究结果:19 名男性和 2 名女性音乐家肌张力障碍患者参加了这项研究,为期六年。19名患者完成了研究。与基线相比,主要结果分析显示肌张力障碍严重程度的变化为 P = 0.04,整体音乐表现的改善为 P = 0.027。临床上未观察到明显的乏力,也未发现毒素中和抗体:尽管样本量较小,但我们的研究表明,注射伊可丁毒素 A 治疗音乐家的任务特异性肌张力障碍在统计学上有显著疗效。通过加强注射量身定制的毒素使用方法,使剂量策略和疗效得到了完善,患者从中获得的益处在录像评估中清晰可见。除了应用于音乐家的肌张力障碍外,这种方法还可用于优化肉毒杆菌毒素在其他形式的局灶性肌张力障碍(如眼睑痉挛、颈肌张力障碍、作家痉挛和痉挛性发音障碍)中的应用。
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引用次数: 0
Tremor in Spinocerebellar Ataxia: A Scoping Review. 脊髓小脑共济失调的震颤:范围综述。
IF 2.5 Q2 CLINICAL NEUROLOGY Pub Date : 2024-06-20 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.911
Adreesh Mukherjee, Sanjay Pandey

Background: Spinocerebellar ataxia (SCA) denotes an expanding list of autosomal dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum of the SCAs, its prevalence, phenomenology, and pathophysiology are unknown.

Objectives: This review aims to describe the various types of tremors seen in the different SCAs, with a discussion on the pathophysiology of the tremors, and the possible treatment modalities.

Methods: The authors conducted a literature search on PubMed using search terms including tremor and the various SCAs. Relevant articles were included in the review after excluding duplicate publications.

Results: While action (postural and intention) tremors are most frequently associated with SCA, rest and other rare tremors have also been documented. The prevalence and types of tremors vary among the different SCAs. SCA12, common in certain ethnic populations, presents a unique situation, where the tremor is typically the principal manifestation. Clinical manifestations of SCAs may be confused with essential tremor or Parkinson's disease. The pathophysiology of tremors in SCAs predominantly involves the cerebellum and its networks, especially the cerebello-thalamo-cortical circuit. Additionally, connections with the basal ganglia, and striatal dopaminergic dysfunction may have a role. Medical management of tremor is usually guided by the phenomenology and associated clinical features. Deep brain stimulation surgery may be helpful in treatment-resistant tremors.

Conclusions: Tremor is an elemental component of SCAs, with diverse phenomenology, and emphasizes the role of the cerebellum in tremor. Further studies will be useful to delineate the clinical, pathophysiological, and therapeutic aspects of tremor in SCAs.

背景:脊髓小脑共济失调(SCA)是一种不断扩展的常染色体显性小脑性共济失调。尽管震颤是 SCA 临床表现的一个重要方面,但其发病率、现象学和病理生理学尚不清楚:本综述旨在描述不同 SCA 中出现的各种类型的震颤,讨论震颤的病理生理学以及可能的治疗方法:作者在 PubMed 上进行了文献检索,检索词包括震颤和各种 SCA。在排除重复文献后,将相关文章纳入综述:结果:虽然动作性震颤(姿势性和意向性)最常见于 SCA,但也有静止性震颤和其他罕见震颤的记录。不同 SCA 的震颤发生率和类型各不相同。SCA12 常见于某些种族人群,情况比较特殊,震颤通常是其主要表现。SCA 的临床表现可能与本质性震颤或帕金森病相混淆。SCA 震颤的病理生理学主要涉及小脑及其网络,尤其是小脑-眼球-皮层回路。此外,与基底神经节的联系和纹状体多巴胺能功能障碍也可能起一定作用。震颤的医学治疗通常以震颤现象和相关临床特征为指导。脑深部刺激手术可能有助于治疗难治性震颤:震颤是 SCA 的重要组成部分,具有多种多样的现象,强调了小脑在震颤中的作用。进一步的研究将有助于明确 SCA 震颤的临床、病理生理学和治疗方面的问题。
{"title":"Tremor in Spinocerebellar Ataxia: A Scoping Review.","authors":"Adreesh Mukherjee, Sanjay Pandey","doi":"10.5334/tohm.911","DOIUrl":"10.5334/tohm.911","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia (SCA) denotes an expanding list of autosomal dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum of the SCAs, its prevalence, phenomenology, and pathophysiology are unknown.</p><p><strong>Objectives: </strong>This review aims to describe the various types of tremors seen in the different SCAs, with a discussion on the pathophysiology of the tremors, and the possible treatment modalities.</p><p><strong>Methods: </strong>The authors conducted a literature search on PubMed using search terms including tremor and the various SCAs. Relevant articles were included in the review after excluding duplicate publications.</p><p><strong>Results: </strong>While action (postural and intention) tremors are most frequently associated with SCA, rest and other rare tremors have also been documented. The prevalence and types of tremors vary among the different SCAs. SCA12, common in certain ethnic populations, presents a unique situation, where the tremor is typically the principal manifestation. Clinical manifestations of SCAs may be confused with essential tremor or Parkinson's disease. The pathophysiology of tremors in SCAs predominantly involves the cerebellum and its networks, especially the cerebello-thalamo-cortical circuit. Additionally, connections with the basal ganglia, and striatal dopaminergic dysfunction may have a role. Medical management of tremor is usually guided by the phenomenology and associated clinical features. Deep brain stimulation surgery may be helpful in treatment-resistant tremors.</p><p><strong>Conclusions: </strong>Tremor is an elemental component of SCAs, with diverse phenomenology, and emphasizes the role of the cerebellum in tremor. Further studies will be useful to delineate the clinical, pathophysiological, and therapeutic aspects of tremor in SCAs.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"31"},"PeriodicalIF":2.5,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11192095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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Tremor and Other Hyperkinetic Movements
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