Journal of Clinical Neuromuscular Disease最新文献_第8页

Immune-Mediated Small Fiber Neuropathy With Trisulfated Heparin Disaccharide, Fibroblast Growth Factor Receptor 3, or Plexin D1 Antibodies: Presentation and Treatment With Intravenous Immunoglobulin. 免疫介导的小纤维神经病变与三磺酸肝素双糖、成纤维细胞生长因子受体3或丛蛋白D1抗体:表现和静脉注射免疫球蛋白治疗。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000423

Lawrence A Zeidman, Pravesh Saini, Peter Mai

{"title":"Immune-Mediated Small Fiber Neuropathy With Trisulfated Heparin Disaccharide, Fibroblast Growth Factor Receptor 3, or Plexin D1 Antibodies: Presentation and Treatment With Intravenous Immunoglobulin.","authors":"Lawrence A Zeidman, Pravesh Saini, Peter Mai","doi":"10.1097/CND.0000000000000423","DOIUrl":"https://doi.org/10.1097/CND.0000000000000423","url":null,"abstract":"Objectives: Up to 50% of small fiber neuropathy (SFN) cases are idiopathic, but novel antibodies to Trisulfated Heparin Disaccharide (TS-HDS) and fibroblast growth factor receptor 3 (FGFR-3) have been implicated in half of these cases; the role of anti-Plexin D1 is less clear. We aimed to clarify presentation and management of these patients.Methods: An 18-month retrospective analysis revealed 54 cases of cryptogenic SFN who had testing for the 3 autoantibodies. Demographics, clinical features, epidermal nerve fiber density, and Quantitative Sudomotor Axon Reflex Test results were analyzed. Intravenous immunoglobulin (IVIG) treatment response was assessed.Results: In total, 44.4% of patients had antibodies (62.5% TS-HDS, 29.2% FGFR-3, and 20.8% Plexin D1). Male patients were more likely to be FGFR-3 positive (P = 0.014). Facial involvement was more common in seropositive patients (P = 0.034), and patients with a higher Utah Early Neuropathy Scale score had a higher TS-HDS titer (P = 0.0469), but other clinical features were not significantly different. Seropositive patients trended toward a higher SFN screening list score (P = 0.16), abnormal Quantitative Sudomotor Axon Reflex Test (P = 0.052), and prior erroneous diagnosis (P = 0.19). In patients who completed IVIG, examinations and questionnaires improved and mean epidermal nerve fiber density increased by 297%.Conclusions: TS-HDS, FGFR-3, and Plexin D1 antibodies are present in a high proportion of cryptogenic SFN cases with more facial involvement, and greater disease severity is associated with higher antibody titers. They are often misdiagnosed but may respond subjectively and objectively to IVIG.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40441086","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: 3

What Is in the Myopathy Literature? 什么是肌病文献?

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000428

Tawfiq Al-Lahham, David Lacomis

{"title":"What Is in the Myopathy Literature?","authors":"Tawfiq Al-Lahham, David Lacomis","doi":"10.1097/CND.0000000000000428","DOIUrl":"https://doi.org/10.1097/CND.0000000000000428","url":null,"abstract":"Abstract: We cover intensive care unit-acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there is some evidence that coronavirus disease 2019 causes myopathy directly. Corticosteroid regimens in Duchenne muscular dystrophy are addressed including outcomes in pulmonary and cardiac function. A recent article notes a continued diagnostic delay in Duchenne muscular dystrophy. An interesting report of a Canary Islands cohort of patients with oculopharyngeal muscular dystrophy is discussed. Features and clinical pearls related to a series of patients with limb-girdle muscle dystrophy R12 (anoctaminopathy) and a misdiagnosis of idiopathic inflammatory myopathy are provided. The last section on autoimmune myopathy includes articles on clinical and pathologic features associated with myositis-specific antibodies and dermatomyositis, the epidemiology of immune-mediated necrotizing myopathies (IMNMs) in Olmsted County, Minnesota, and features of a German cohort of hydroxy-3-methylglutaryl coenzyme A reductase-associated IMNM. A recent article proposes the benefit of early intravenous immunoglobulin use for adults with IMNM. We also highlight a report of 2 unusual cases of antisignal recognition particle myopathy presenting with asymmetric distal weakness.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40636319","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

Refractory Ventricular Arrhythmia and Dilated Cardiomyopathy as the Initial Presentation of Myotonic Dystrophy Type 2. 顽固性室性心律失常和扩张型心肌病是2型强直性肌营养不良的初始表现。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000384

Xiaoyang Li, Rebecca Traub

引用次数: 0

COVID-19 in a Patient With Duchenne Muscular Dystrophy. 杜氏肌营养不良患者的COVID-19

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000394

Mukaish Kumar, Lakshmi Digala, Raghav Govindarajan

引用次数: 0

Boston Carpal Tunnel Questionnaire and Severity of Carpal Tunnel Syndrome 波士顿腕管问卷与腕管综合征的严重程度

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000409

C. Forcelini, Estevão Ramon Chichelero, A. De Oliveira, Francisco Tres da Silva, Pietro Henrique Barbosa Durigan, Nathália Orso Ramos, L. Bianchini, Bárbara Battistel, V. Borghetti

{"title":"Boston Carpal Tunnel Questionnaire and Severity of Carpal Tunnel Syndrome","authors":"C. Forcelini, Estevão Ramon Chichelero, A. De Oliveira, Francisco Tres da Silva, Pietro Henrique Barbosa Durigan, Nathália Orso Ramos, L. Bianchini, Bárbara Battistel, V. Borghetti","doi":"10.1097/CND.0000000000000409","DOIUrl":"https://doi.org/10.1097/CND.0000000000000409","url":null,"abstract":"Abstract Objectives: Carpal tunnel syndrome (CTS) is a common compressive neuropathy linked to disability in severe cases. Tools capable of distinguishing the severity spectrum median nerve entrapment in clinical practice are desirable. Methods: This cross-sectional study included 58 CTS patients assisted in a Brazilian neurologic clinic. Participants were naive of surgical interventions and answered to Boston Carpal Tunnel Questionnaire (BCTQ). CTS was classified as mild, moderate, and severe according to electrodiagnostic testing. Results: There was no significant difference in BCTQ scores across the severity spectrum of median nerve entrapment, not even comparing mild cases with the group moderate/severe. Mild cases were younger (mean ± SD: 46.5 ± 9.2 years) than severe ones (60.0 ± 13.5, P = 0.04) and the group moderate/severe (55.5 ± 14.5, P = 0.01). Conclusions: Results suggest that BCTQ is not adequate to assess the interpatient severity of median nerve entrapment on clinical practice.","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":"49637580","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

Rituximab Responsive Relapsing–Remitting IgG4 Anticontactin 1 Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated With Membranous Nephropathy: A Case Description and Brief Review 慢性炎症性脱髓鞘性多根神经病变伴膜性肾病:一例描述和简要回顾

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000395

G. Remiche, Marta Lamartine S Monteiro, C. Catalano, J. Hougardy, E. Delmont, J. Boucraut, N. Mavroudakis

引用次数: 1

Academic and Employment Status in Patients With Generalized Myasthenia Gravis Treated With Eculizumab: A Case Series. Eculizumab治疗全身性重症肌无力患者的学业和就业状况:一个病例系列

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000391

Seung Ah Kang, Megan Sweeney, Raghav Govindarajan

{"title":"Academic and Employment Status in Patients With Generalized Myasthenia Gravis Treated With Eculizumab: A Case Series.","authors":"Seung Ah Kang, Megan Sweeney, Raghav Govindarajan","doi":"10.1097/CND.0000000000000391","DOIUrl":"https://doi.org/10.1097/CND.0000000000000391","url":null,"abstract":"Objectives: To evaluate the impact of treatment with eculizumab, a terminal complement inhibitor, on academic and employment status in patients with refractory generalized myasthenia gravis (MG).Methods: Case review of 7 US patients.Results: Six patients were aged ≤65 years; one was a full-time student and the remainder were in employment before MG diagnosis. After diagnosis, all patients gave up work (n = 3) or reduced their study/working hours (n = 4). In the 12 months after eculizumab initiation, patients who had stopped work resumed working in some capacity, whereas those who had changed their work/study hours returned to their original work/study pattern. Patients also experienced a reduction in the number of MG exacerbations, and a clinically significant improvement in MG-Activities of Daily Living scores, and were able to reduce other MG medications.Conclusions: These results suggest that treatment with eculizumab may help maintain education/employment activity in patients with refractory generalized MG.","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":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d9/e3/jcnd-23-210.PMC9126260.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10131317","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: 1

Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy. 重复神经刺激试验鉴别多灶性运动神经病与进行性肌萎缩的临床应用。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000401

Shunsuke Watanabe, Kenji Sekiguchi, Yoshikatsu Noda, Riki Matsumoto

{"title":"Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy.","authors":"Shunsuke Watanabe, Kenji Sekiguchi, Yoshikatsu Noda, Riki Matsumoto","doi":"10.1097/CND.0000000000000401","DOIUrl":"https://doi.org/10.1097/CND.0000000000000401","url":null,"abstract":"Objectives: To evaluate the utility of repetitive nerve stimulation test (RNS) for differentiating multifocal motor neuropathy (MMN) and progressive muscular atrophy (PMA).Methods: We retrospectively enrolled 20 patients with MMN or PMA. We extracted the results of the initial 3-Hz RNS in the ulnar and accessory nerves and compared the percentage and frequency of abnormal decremental responses between both groups.Results: RNS was performed in 8 ulnar and 9 accessory nerves in patients with MMN, and in 8 ulnar and 10 accessory nerves in patients with PMA. Patients with MMN had a significantly lower decrement percentage (0.6 ± 4.0% in MMN vs. 10.3 ± 6.5% in PMA, P < 0.01) and frequency of abnormal decremental response (0 of 9 in MMN vs. 6 of 10 in PMA, P = 0.01) than patients with PMA in the accessory nerve.Conclusions: The RNS has clinical utility for differentiating MMN from PMA.","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":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/7a/jcnd-23-175.PMC9126258.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10131319","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: 1

Parsonage Turner Syndrome Following Vaccination With mRNA-1273 SARS-CoV-2 Vaccine. 接种 mRNA-1273 SARS-CoV-2 疫苗后出现特纳综合征。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000411

James H Bernheimer, Gregory Gasbarro

引用次数: 0

Parsonage-Turner Syndrome: Fascicular Involvement and Focal Constriction. 帕森纳-特纳综合征:肌束受累和局灶性收缩。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-06-01 DOI: 10.1097/CND.0000000000000407

W. Waheed, D. Sneag

引用次数: 1