{"title":"Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor.","authors":"Nina Xie, Qiying Sun, Guang Yang","doi":"10.5334/tohm.962","DOIUrl":"10.5334/tohm.962","url":null,"abstract":"<p><strong>Background: </strong>Postural tremor is a common clinical situation. Timely and accurate diagnosis is essential for effective treatment. However, clinicians often encounter difficulties distinguishing between essential tremor and other etiologies due to overlapping symptoms and atypical features.</p><p><strong>Case description: </strong>A twenty-year-old man presented with a five-year history of progressive hand tremors. Neurological examinations were notable for asymmetric postural tremors in both hands, with mild distal finger muscle wasting and subtle kinetic tremors. NCS/EMG revealed neurogenic changes in the C7-C8 myotome. Upon neck flexion, cervical spinal cord MRI revealed prominent flow voids in the widened posterior epidural space from C6 to T3 levels. We diagnosed him with Hirayama disease.</p><p><strong>Discussion: </strong>Hand tremors caused by Hirayama disease have distinctive patterns from that of essential tremor (ET). In our patient, the prominent postural tremor, the involvement of finger joints rather than writs and elbows, and the spiral drawing waveforms argue against ET. Moreover, the onset age, absence of family history, and right-hand intrinsic muscle wasting are also red flag signs. Recognition of these clinical nuances is important to avoid misdiagnosis.</p><p><strong>Highlights: </strong>Our case highlights the importance of thorough physical examinations and the necessity of considering Hirayama disease in young men presenting with hand tremors.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"59"},"PeriodicalIF":2.5,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11639689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829591","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}
{"title":"Decoding Dystonia in Autoimmune Disorders: A Scoping Review.","authors":"Debayan Dutta, Ravi Yadav","doi":"10.5334/tohm.915","DOIUrl":"10.5334/tohm.915","url":null,"abstract":"<p><strong>Background: </strong>Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a structured manner.</p><p><strong>Objective: </strong>This scoping review aims to summarize all available clinical literature and formulate a pattern and approach to dystonia in different autoimmune disorders.</p><p><strong>Methods: </strong>We included one hundred and three articles in this scoping review. Most articles identified were case reports or case series.</p><p><strong>Results: </strong>In this review, we analysed data from 103 articles and summarized the epidemiological, clinical, and diagnostic features of dystonia associated with different autoimmune diseases. We highlight that dystonia can be isolated or combined in various autoimmune conditions and is responsive to immunotherapy. We point out the patterns of dystonia and associated neurological features and investigations that can suggest the underlying autoimmune nature, which can guide the most appropriate treatment.</p><p><strong>Discussion: </strong>The clinical pattern of dystonia can be a unique feature in many autoimmune disorders. In isolated subacute dystonia, the presence of autoantibodies could have a temporal association, or this is just an epiphenomenon to be evaluated in further research.</p><p><strong>Highlights: </strong>Many autoimmune disorders can present with isolated or combined dystonia.Subacute onset focal or segmental dystonia (craniocervical dystonia or limb dystonia) or hemidystonia could be secondary to an autoimmune condition and warrants investigations.They have a relapsing or progressive course.They usually have a good response to early immunotherapy.Symptomatic treatment, including botulinum toxin, can be useful in focal dystonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"60"},"PeriodicalIF":2.5,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802192","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}
Esra Kochan Kizilkilic, Nursena Erener, Mustafa Meric, Nurten Uzun Adatepe, Aysegul Gunduz
{"title":"Risk of Spreading in Adult-onset Dystonia.","authors":"Esra Kochan Kizilkilic, Nursena Erener, Mustafa Meric, Nurten Uzun Adatepe, Aysegul Gunduz","doi":"10.5334/tohm.952","DOIUrl":"10.5334/tohm.952","url":null,"abstract":"<p><strong>Background: </strong>Adult-onset dystonia can also spread to other parts of the body, although it is not as common as childhood-onset dystonia.</p><p><strong>Objective: </strong>Our study aimed to examine the clinical factors determining spreading patterns in all adult-onset dystonia types.</p><p><strong>Methods: </strong>We retrospectively analyzed the medical records of patients with a diagnosis of isolated dystonia followed longitudinally at our center. We included patients reporting symptom onset after 18 years. We then compared the clinical factors between groups with and without spreading.</p><p><strong>Results: </strong>Among 434 patients (396 focal, 29 segmental, and nine generalized onset dystonia. mean follow-up of 8.6 ± 7.8 years), 48 (11.1%) experienced spread of dystonia, with 37 progressing from focal to segmental, two from focal to generalized, two from segmental to generalized, and seven from focal to segmental to generalized dystonia. Blepharospasm was the most common focal dystonia noted to spread, followed by oromandibular dystonia, cervical dystonia, laryngeal dystonia, and upper extremity dystonia, in decreasing order. A spreading pattern was observed in approximately one in 10 dystonia patients, and the spreading was more frequent in the segmental dystonia group. While there was no difference between the spreading groups regarding sensory tricks, tremor, and gender, family history was more common in the non-spreading group (p = 0.023). Older age at onset was independently associated with increased odds of spreading (hazards ratio: 1.054, p < 0.001, B = 0.053).</p><p><strong>Conclusion: </strong>Although risk factors for spread are variable, the underlying mechanisms are not fully known. Genetic factors may be possibly related to the spread, and future studies are needed on this subject.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"59"},"PeriodicalIF":2.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802194","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}
Laurane Mackels, David Aktan, Frédérique Depierreux
{"title":"Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.","authors":"Laurane Mackels, David Aktan, Frédérique Depierreux","doi":"10.5334/tohm.946","DOIUrl":"10.5334/tohm.946","url":null,"abstract":"<p><strong>Background: </strong>While levodopa may benefit some patients with monogenic Parkinson's Disease and parkinsonism, others may exhibit aberrant responses earlier after exposure. Reporting treatment responses in rare genetic parkinsonism will help tailor therapeutic approaches to specific patients subpopulations.</p><p><strong>Case report: </strong>We report the therapeutic response in a patient with <i>RAB39B</i> X-linked parkinsonism, who exhibited motor and non-motor complications within a few months of Levodopa.</p><p><strong>Discussion: </strong>Severe and debilitating Levodopa-induced complications can occur very early in the treatment course of X-linked parkinsonism, highlighting the need for an individualized therapeutic approach and follow-up in rare parkinsonian syndromes.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"58"},"PeriodicalIF":2.5,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772604","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}
{"title":"Substantial Improvement in a Patient with Subacute Sclerosing Panencephalitis: An Unusual Case Report.","authors":"Sneh Jain, Shweta Pandey, Ravindra Kumar Garg, Swansu Suresh Kumar Batra","doi":"10.5334/tohm.972","DOIUrl":"10.5334/tohm.972","url":null,"abstract":"<p><strong>Background: </strong>Subacute Sclerosing Panencephalitis (SSPE) is a fatal disorder marked by gradual cognitive and motor deterioration, leading to death typically within 1-3 years.</p><p><strong>Case report: </strong>A 20-year-old woman with progressive abnormal behaviour, forgetfulness, and involuntary movements showed significant improvement after treatment with interferon and isoprinosine. Initially severely cognitively impaired and dependent, she regained independence and demonstrated marked cognitive enhancement, her MMSE improved from 15 to 28 and reduced myoclonus. Her progress was sustained over three years, substantially enhancing her quality of life.</p><p><strong>Discussion: </strong>This SSPE case shows significant improvement in disability. Early identification of such cases is crucial for improved prognostic counselling for families.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"57"},"PeriodicalIF":2.5,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11583608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709675","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}
{"title":"Shaking Up Essential Tremor: Peripheral Devices and Mechanical Strategies to Reduce Tremor.","authors":"Kian Adabi, William G Ondo","doi":"10.5334/tohm.930","DOIUrl":"10.5334/tohm.930","url":null,"abstract":"<p><p>This review discusses non-pharmacological, non-surgical interventions for action tremor, including essential tremor (ET). We review transcutaneous peripheral nerve stimulation (PNS), a variety of orthotic/mechanical devices, cooling and vibration strategies, and adaptive utensils, most of which are currently available. The PNS section discusses open loop (CALA-Trio) and closed loop systems (Felix™, NeuroAI™ and Motimove® systems). Orthotic devices which physically dampen tremor include Tremulo™, GyroGlove™, WOTAS exoskeleton, Magnetorheological Fluid-Based Exoskeleton System, Steadi-One® and Steadi-Two®, and Readi-Steady®. Adaptive devices include weighted spoons, deep cavity spoons, counter-balance utensils, and electrical actuator devices. Despite availability, most of these devices have limited to no published clinical trial data.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"55"},"PeriodicalIF":2.5,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649011","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}
Vidal Yahya, Rosa Consuelo Chavez, Laura Campiglio, Manuela Zardoni, Alberto Priori
{"title":"Echography-guided Botulinum Toxin for Moving Ear Syndrome.","authors":"Vidal Yahya, Rosa Consuelo Chavez, Laura Campiglio, Manuela Zardoni, Alberto Priori","doi":"10.5334/tohm.951","DOIUrl":"10.5334/tohm.951","url":null,"abstract":"<p><strong>Background: </strong>Moving Ear Syndrome is a rare hyperkinetic disorder.</p><p><strong>Phenomenology shown: </strong>This Video Abstract illustrates typical backward movements of the right ear associated with pain and discomfort in a man with Moving Ear Syndrome.</p><p><strong>Educational value: </strong>Moving Ear Syndrome is effectively and safely treatable with EMG-US-guided botulinum toxin injections.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"56"},"PeriodicalIF":2.5,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649004","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}
{"title":"Adult-Onset Neuronal Ceroid Lipofuscinosis: <i>CLN5</i> Variant Presenting as Focal Dystonia.","authors":"Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj","doi":"10.5334/tohm.941","DOIUrl":"https://doi.org/10.5334/tohm.941","url":null,"abstract":"<p><strong>Background: </strong>Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. <i>CLN</i> variants cause varied phenotypic presentations.</p><p><strong>Case report: </strong>A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the <i>CLN5</i> variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.</p><p><strong>Conclusion: </strong>Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"54"},"PeriodicalIF":2.5,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629017","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}
José Fidel Baizabal-Carvallo, Carlos Manuel Cortés, Marlene Alonso-Juarez, Robert Fekete
{"title":"Tremor Following Guillain Barré Syndrome.","authors":"José Fidel Baizabal-Carvallo, Carlos Manuel Cortés, Marlene Alonso-Juarez, Robert Fekete","doi":"10.5334/tohm.906","DOIUrl":"https://doi.org/10.5334/tohm.906","url":null,"abstract":"<p><strong>Background: </strong>Neuropathic tremor occurs with damage to the peripheral nervous system. Guillain-Barré syndrome (GBS) causes acute paralysis following nerve inflammation sometimes resulting in long-term disability. It is unclear how frequent and severe tremor is following GBS.</p><p><strong>Objectives: </strong>We aimed to assess the frequency and features of tremor following GBS.</p><p><strong>Methods: </strong>We enrolled 18 patients with GBS treated in a secondary care center within a 4-year period. Evaluations were done with the Fahn-Tolosa-Marin tremor rating scale (FTM-TRS). We compared these features with a cohort of consecutive patients with untreated essential tremor (ET).</p><p><strong>Results: </strong>There were 13 males and 5 females with a mean age at evaluation (S.D.) of 41.5 ± 14.0 years and at GBS onset of 40.2 ± 13.7. No patient had history of tremor before GBS. Upper limb tremor was identified in 16 (89%) cases, 35.5% of patients had FTM-TRS score ≥10 points. Tremor was mostly kinetic, jerky with low amplitude with a total score of 10.94 ± 11.84 in the FTM-TRS. Compared with patients with ET, those with GBS-tremor were younger and had lower scores in all subscales of the FTM-TRS (<i>P</i> value < 0.05 for all comparisons). In a multivariate linear regression analysis \"days of hospitalization\" had a positive association with the total FTM-TRS score (<i>P</i> = 0.001).</p><p><strong>Conclusions: </strong>Tremor was common following GBS. This tremor is mild compared with patients with ET, but adds functional impact.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"53"},"PeriodicalIF":2.5,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142547676","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}
Jennifer Adrissi, Sarah Brooker, Alyssa Mcbride, Danielle Larson, Eric Gausche, Danny Bega
{"title":"Caffeine Use in Huntington's Disease: A Single Center Survey.","authors":"Jennifer Adrissi, Sarah Brooker, Alyssa Mcbride, Danielle Larson, Eric Gausche, Danny Bega","doi":"10.5334/tohm.945","DOIUrl":"10.5334/tohm.945","url":null,"abstract":"<p><strong>Background: </strong>Anecdotal evidence suggests paradoxical caffeine overuse in individuals with Huntington's disease (HD). A small retrospective study associated caffeine intake over 190 grams daily to earlier onset of HD symptoms. However, specific data on consumption habits is limited. This study aims to gather pilot data on caffeine use in people with HD, exploring motivations and consequences.</p><p><strong>Methods: </strong>Thirty adults with HD completed a survey on daily caffeine intake, its impact on symptoms, and consumption motivations through multiple-choice and open-ended questions. Descriptive statistics were used to analyze findings and compare them to general population data.</p><p><strong>Results: </strong>Caffeine intake ranged from 0 to 1400.4 mg/day, with a median of 273.2 mg/day and a mean of 382.5 mg/day. Seventy percent of participants with HD consumed more caffeine than the average for their age group in the general population. Additionally, 20% of participants and 38% of family members believed caffeine influenced HD symptoms, primarily anxiety.</p><p><strong>Discussion: </strong>People with HD typically consume more caffeine than the general U.S. population. Contrary to the hypothesis, higher caffeine intake was not associated with significant subjective worsening of HD symptoms. Further research with objective measures and multiple HD centers is necessary to guide screening and counseling on caffeine use in this population.</p><p><strong>Highlights: </strong>Participants with Huntington's disease (HD) had increased caffeine intake compared to the general population, supporting previous anecdotal observations. Anxiety was the most affected HD symptom. Further research using objective measures of symptom burden and including multiple HD centers can help inform screening and counseling regarding caffeine use in this population.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"52"},"PeriodicalIF":2.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475771","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}