Journal of Clinical Neuromuscular Disease最新文献_第9页

Facial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report. 面部发病感觉和运动神经病变样综合征1例报告。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000402

David M Bruss, Prashanth Venkataraman, Tahseen Mozaffar

{"title":"Facial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report.","authors":"David M Bruss, Prashanth Venkataraman, Tahseen Mozaffar","doi":"10.1097/CND.0000000000000402","DOIUrl":"https://doi.org/10.1097/CND.0000000000000402","url":null,"abstract":"Objectives: Facial onset sensory and motor neuronopathy syndrome (FOSMN) is a rare motor neuron disorder characterized by facial sensory and motor aberrations that progress to the upper limbs. We present a case of FOSMN-like syndrome that has characteristics of FOSMN but is confined to the craniofacial region.Methods: Retrospective chart review and review of the literature.Results: A 70-year-old woman presented with a 1-month history of progressive bilateral facial sensory loss and weakness affecting the trigeminal and hypoglossal nerves. Within 12 months, she developed debilitating weakness affecting her lower and midface bilaterally. After an extensive workup, a diagnosis of FOSMN-like syndrome was made, as symptoms failed to progress to the upper extremities.Conclusions: This case demonstrates a unique presentation of FOSMN that we classify as FOSMN-like syndrome. Clinicians must maintain a high index of suspicion when a patient presents with clinical features characteristic of FOSMN syndrome without progression of symptoms distal to the craniofacial region because it may represent a FOSMN-like syndrome.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":" ","pages":"55-58"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40636321","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

Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study. 1A型腓骨肌痛患者报告的症状负担:来自一项观察性数字生活方式研究的发现

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000426

Florian P Thomas, Mario A Saporta, Shahram Attarian, Teresa Sevilla, Rafael Sivera, Gian M Fabrizi, Filippo Genovese, Amy J Gray, Simon Bull, Daniel Tanesse, Manuel Rego, Allison Moore, Courtney Hollett, Xavier Paoli, Thomas Sénéchal, Laura Day, Chengyu Ouyang, Samuel Llewellyn, Mark Larkin, Youcef Boutalbi

{"title":"Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.","authors":"Florian P Thomas, Mario A Saporta, Shahram Attarian, Teresa Sevilla, Rafael Sivera, Gian M Fabrizi, Filippo Genovese, Amy J Gray, Simon Bull, Daniel Tanesse, Manuel Rego, Allison Moore, Courtney Hollett, Xavier Paoli, Thomas Sénéchal, Laura Day, Chengyu Ouyang, Samuel Llewellyn, Mark Larkin, Youcef Boutalbi","doi":"10.1097/CND.0000000000000426","DOIUrl":"https://doi.org/10.1097/CND.0000000000000426","url":null,"abstract":"Objectives: This study aims to explore the impact of Charcot-Marie-Tooth disease type 1A (CMT1A) and its treatment on patients in European (France, Germany, Italy, Spain, and the United Kingdom) and US real-world practice.Methods: Adults with CMT1A (n = 937) were recruited to an ongoing observational study exploring the impact of CMT. Data were collected via CMT&Me, an app through which participants completed patient-reported outcome measures.Results: Symptoms ranked with highest importance were weakness in the extremities, difficulty in walking, and fatigue. Almost half of participants experienced a worsening of symptom severity since diagnosis. Anxiety and depression were each reported by over one-third of participants. Use of rehabilitative interventions, medications, and orthotics/walking aids was high.Conclusions: Patient-reported burden of CMT1A is high, influenced by difficulties in using limbs, fatigue, pain, and impaired quality of life. Burden severity appears to differ across the population, possibly driven by differences in rehabilitative and prescription-based interventions, and country-specific health care variability.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"24 1","pages":"7-17"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/26/da/jcnd-24-7.PMC9394494.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10189457","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

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review. 与bcl -2相关的凋亡基因3突变相关的肌原纤维肌病的广谱心肌表型:一例报告和文献综述

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000392

Yuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, Yoshio Makita, Takashi Kimura, Kumiko Yanagi, Tadashi Kaname, Ichizo Nishino, Satoru Takahashi

{"title":"Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.","authors":"Yuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, Yoshio Makita, Takashi Kimura, Kumiko Yanagi, Tadashi Kaname, Ichizo Nishino, Satoru Takahashi","doi":"10.1097/CND.0000000000000392","DOIUrl":"https://doi.org/10.1097/CND.0000000000000392","url":null,"abstract":"Abstract: Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with early-onset and progressive muscle weakness, rigid spine, respiratory insufficiency, and cardiomyopathy. Notably, the heterozygous mutation (Pro209Leu) in BAG3 is commonly associated with rapidly progressive cardiomyopathy in childhood. We describe a male patient with the BAG3 (Pro209Leu) mutation. The patient presented at age 7 years with muscle weakness predominantly in the proximal lower limbs. Histologic findings revealed a mixture of severe neurogenic and myogenic changes. His motor symptoms progressed rapidly in the next decade, becoming wheelchair-dependent by age 17 years; however, at the age of 19 years, cardiomyopathy was not evident. This study reports a case of BAG3-related myopathy without cardiac involvement and further confirmed the wide phenotypic spectrum of BAG3-related myopathy.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":" ","pages":"49-54"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40636320","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

Diagnostic Outcome of Genetic Testing for Neuromuscular Disorders in a Tertiary Center. 三级中心神经肌肉疾病基因检测的诊断结果。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000389

Husam Al Sultani, Komal Hafeez, Aziz Shaibani

引用次数: 0

Long-Term Remission With Low-Dose Rituximab in Myasthenia Gravis: A Retrospective Study. 低剂量利妥昔单抗治疗重症肌无力长期缓解:一项回顾性研究。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI: 10.1097/CND.0000000000000420

Juan I Castiglione, Alberto D Rivero, Fabio Barroso, Patricio Brand, Andrea Lautre, Alejandro A Kohler

{"title":"Long-Term Remission With Low-Dose Rituximab in Myasthenia Gravis: A Retrospective Study.","authors":"Juan I Castiglione, Alberto D Rivero, Fabio Barroso, Patricio Brand, Andrea Lautre, Alejandro A Kohler","doi":"10.1097/CND.0000000000000420","DOIUrl":"https://doi.org/10.1097/CND.0000000000000420","url":null,"abstract":"Objetive: Rituximab (RTX) is a therapeutic option, for patients with myasthenia gravis (MG) not responding to conventional immunosuppressive treatment. In this cohort, we evaluated long-term efficacy of RTX in the treatment of refractory generalized MG.Methods: A retrospective study was performed in adult patients with refractory generalized MG and at least 24 months of follow-up, between January/2015 and October/2021. The Myasthenia Gravis Status and Treatment Intensity Score was used to assess outcomes, and CD19/CD20+ B-cell counts were monitored.Results: Sixteen patients with MG (8 antiacetylcholine receptor+ and 8 muscle-specific antikinase+; mean age 45.5 ± 16.2 years) treated with low-dose RTX protocols were included. CD19/CD20 levels remained undetectable 12 months after induction, and no new relapses were observed during follow-up.Conclusions: Low-dose RTX infusions were sufficient to achieve undetectable CD19/20 cell counts and sustained clinical remission. In low and middle-income countries, the impact of low-dose RTX therapy represents a paradigm shift in decision-making for long-term treatment.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":" ","pages":"18-25"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40441085","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: 2

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":" ","pages":"26-37"},"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":" ","pages":"38-48"},"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":"23 1","pages":"183 - 188"},"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