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Journal of Clinical Neuromuscular Disease最新文献

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Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2. 核黄素转运蛋白缺乏2型的电诊断表现。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000390
J. A. Sánchez, Rebecca E. Traub, S. Trau, J. Howard
{"title":"Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.","authors":"J. A. Sánchez, Rebecca E. Traub, S. Trau, J. Howard","doi":"10.1097/CND.0000000000000390","DOIUrl":"https://doi.org/10.1097/CND.0000000000000390","url":null,"abstract":"ABSTRACT\u0000We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She carries a homozygous mutation in the SLC52A2 gene, c.1016T>C (p.Leu339Pro). Her testing demonstrates a non-length-dependent axonal sensorimotor polyneuropathy affecting predominantly the upper extremities with active denervation of the distal muscles of both arms. It is important to highlight these findings because most genetic neuropathies have a length-dependent pattern of involvement, affecting the distal legs before the arms. The electrodiagnostic findings in RTD2 have not been previously well described. These electrodiagnostic findings are in agreement with the typical clinical phenotype of RTD2, which affects the upper limbs and bulbar muscles more than the lower extremities.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46712485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Pfizer mRNA COVID-19 Vaccination and Acute Inflammatory Demyelinating Polyneuropathy. 辉瑞mRNA COVID-19疫苗与急性炎性脱髓鞘性多神经病变。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000397
Katrina Bernardo, A. Misra
{"title":"Pfizer mRNA COVID-19 Vaccination and Acute Inflammatory Demyelinating Polyneuropathy.","authors":"Katrina Bernardo, A. Misra","doi":"10.1097/CND.0000000000000397","DOIUrl":"https://doi.org/10.1097/CND.0000000000000397","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42103443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Use of Neuromuscular Ultrasound in the Diagnosis of Disulfiram Polyneuropathy. 神经肌肉超声在二硫仑多发性神经病诊断中的应用。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000380
Sabrina Isabel Coronel, J. Dorman
{"title":"Use of Neuromuscular Ultrasound in the Diagnosis of Disulfiram Polyneuropathy.","authors":"Sabrina Isabel Coronel, J. Dorman","doi":"10.1097/CND.0000000000000380","DOIUrl":"https://doi.org/10.1097/CND.0000000000000380","url":null,"abstract":"ABSTRACT\u0000We present the case of a 37-year-old woman with alcohol use disorder, who developed leg cramping, bilateral foot drop, and hand weakness 3 months after starting disulfiram. This was accompanied by an 18-pound involuntary weight loss. Electrophysiologic findings showed a motor predominant axonal neuropathy. Neuromuscular ultrasound showed normal to small cross-sectional area of all nerves studied. This case is discussed, and the ultrasound findings are compared with another reported case.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47829117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What is in the Neuromuscular Junction Literature? 什么是神经肌肉接点文献?
Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000403
Tawfiq Al-Lahham, David Lacomis
{"title":"What is in the Neuromuscular Junction Literature?","authors":"Tawfiq Al-Lahham,&nbsp;David Lacomis","doi":"10.1097/CND.0000000000000403","DOIUrl":"https://doi.org/10.1097/CND.0000000000000403","url":null,"abstract":"<p><strong>Abstract: </strong>This update covers a number of treatment topics starting with Fc receptor inhibitors and the Federal Drug Administration approval of efgartigimod. Some uncertainties regarding the use of corticosteroids are addressed, namely the risk of exacerbation with initiation of treatment and how to taper. The presence and potential importance of antibody overshoot following plasmapheresis is noted and the evolving increase in usefulness of acetylcholine receptor antibodies in diagnosing ocular myasthenia. Several recent series and case reports regarding coronavirus 2019 and myasthenia gravis are reviewed. The topics of myasthenia gravis and pregnancy, and another look at thymectomy in MG are provided. Finally, a couple of case reports on Lambert-Eaton myasthenic syndrome concentrate on the ice pack test and an autoantibody association with paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome in the same patient.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10486795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case of Probable Multifocal Motor Neuropathy With Clinical Stability for Ten Years After a Single Treatment of Rituximab. 一例可能的多灶性运动神经病变，单次利妥昔单抗治疗后临床稳定10年。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000358
Natalia L Gonzalez, Vern C Juel, Saša A Živković
{"title":"A Case of Probable Multifocal Motor Neuropathy With Clinical Stability for Ten Years After a Single Treatment of Rituximab.","authors":"Natalia L Gonzalez,&nbsp;Vern C Juel,&nbsp;Saša A Živković","doi":"10.1097/CND.0000000000000358","DOIUrl":"https://doi.org/10.1097/CND.0000000000000358","url":null,"abstract":"<p><strong>Abstract: </strong>Multifocal motor neuropathy is a rare, immune-mediated motor neuropathy with asymmetric, often debilitating progressive weakness. The efficacy of intravenous immunoglobulin in this disease is well established; however, the response typically wanes over time. No other agent has shown similar therapeutic efficacy. We describe a case of anti-ganglioside GM1 IgM-positive multifocal motor neuropathy with typical incomplete and diminishing response to intravenous immunoglobulin over time. Sixteen years after symptom onset, rituximab was administered at 2 g/m2 over 2 weeks. No significant progression of disease has occurred over the following 10 years despite no additional treatments, including intravenous immunoglobulin, being given. Only case reports and small, mostly uncontrolled studies have reported the use of rituximab in multifocal motor neuropathy with mixed results. However, given its potential benefits and lack of an established second-line agent, treatment with rituximab may be considered in select patients with refractory multifocal motor neuropathy.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10121939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deviating From the True Diagnosis. 偏离真实诊断。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000292
Zhiyong Chen, Monica Saini
{"title":"Deviating From the True Diagnosis.","authors":"Zhiyong Chen,&nbsp;Monica Saini","doi":"10.1097/CND.0000000000000292","DOIUrl":"https://doi.org/10.1097/CND.0000000000000292","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Port-Wine Stain and Monomelic Weakness Associated With Perineurioma: A Neuromuscular Image. 葡萄酒染色和与神经周围瘤相关的单染色体无力:一种神经肌肉图像。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000354
Jenny Riecke, Avneesh Chhabra, Dennis Burns, Jaya R Trivedi
{"title":"Port-Wine Stain and Monomelic Weakness Associated With Perineurioma: A Neuromuscular Image.","authors":"Jenny Riecke,&nbsp;Avneesh Chhabra,&nbsp;Dennis Burns,&nbsp;Jaya R Trivedi","doi":"10.1097/CND.0000000000000354","DOIUrl":"https://doi.org/10.1097/CND.0000000000000354","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10130778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient. 在撒哈拉以南非洲患者中由一种新的PFKM基因变异引起的Tarui病。
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000349
José Rodríguez-Moreno, Lan Zhou, Knarik Arkun, Deeksha Bali, Dallas Reed, Robert Kalish, Mithila Vullaganti, Taha Bali, Óscar Soto
{"title":"Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient.","authors":"José Rodríguez-Moreno,&nbsp;Lan Zhou,&nbsp;Knarik Arkun,&nbsp;Deeksha Bali,&nbsp;Dallas Reed,&nbsp;Robert Kalish,&nbsp;Mithila Vullaganti,&nbsp;Taha Bali,&nbsp;Óscar Soto","doi":"10.1097/CND.0000000000000349","DOIUrl":"https://doi.org/10.1097/CND.0000000000000349","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute Ascending Sensory Neuropathy Associated With Severe Acute Respiratory Syndrome Coronavirus 2 Disease. 急性上升感觉神经病变与严重急性呼吸综合征冠状病毒2病相关
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000361
Sarah Caroyer, Jean-Marc Caroyer
{"title":"Acute Ascending Sensory Neuropathy Associated With Severe Acute Respiratory Syndrome Coronavirus 2 Disease.","authors":"Sarah Caroyer,&nbsp;Jean-Marc Caroyer","doi":"10.1097/CND.0000000000000361","DOIUrl":"https://doi.org/10.1097/CND.0000000000000361","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What Is in the Literature. 文学作品里有什么?
Journal of Clinical Neuromuscular Disease Pub Date : 2022-03-01 DOI: 10.1097/CND.0000000000000399
Mark B Bromberg
{"title":"What Is in the Literature.","authors":"Mark B Bromberg","doi":"10.1097/CND.0000000000000399","DOIUrl":"https://doi.org/10.1097/CND.0000000000000399","url":null,"abstract":"<p><strong>Abstract: </strong>This issue of What Is in the Literature focuses on articles on amyotrophic lateral sclerosis over the past year. Amyotrophic lateral sclerosis remains a challenging disorder with progression to death. Within the past year, a phase 2 trial of a drug combination showed slowing in the rate of progression. While awaiting a phase 3 trial or approval by the Food and Drug Administration, selected articles that aid the diagnosis, contribute to care, or add to general knowledge about the disease are reviewed.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39638355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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