Journal of Clinical Neuromuscular Disease最新文献_第7页

Safety and Immunogenicity of Additional SARS-CoV-2 Vaccinations in a Patient With Myasthenia Gravis on Mycophenolate: A Case Report. 重症肌无力患者补充接种SARS-CoV-2疫苗的安全性和免疫原性:一例麦考酚酸盐报告

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000405

Brendan L McNeish, Richard B Colletti, Michael K Hehir

引用次数: 0

Nitrofurantoin and Minocycline-Associated Vasculitic Neuropathy: Case Reports and Literature Review. 呋喃妥因和二甲胺四环素相关的血管性神经病变:病例报告和文献综述。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000404

Mohammad Aladawi, Shahar Shelly, P James B Dyck, Matthew Koster, JaNean Engelstad, Ezequiel A Piccione, Elie Naddaf

{"title":"Nitrofurantoin and Minocycline-Associated Vasculitic Neuropathy: Case Reports and Literature Review.","authors":"Mohammad Aladawi, Shahar Shelly, P James B Dyck, Matthew Koster, JaNean Engelstad, Ezequiel A Piccione, Elie Naddaf","doi":"10.1097/CND.0000000000000404","DOIUrl":"https://doi.org/10.1097/CND.0000000000000404","url":null,"abstract":"Background: Vasculitic neuropathies usually present acutely to subacutely, with an asymmetric pattern, involving multiple peripheral nerve territories. Drug-induced vasculitis is an often overlooked etiology of vasculitic neuropathy.Methods: We present the first reported case of nitrofurantoin-associated and an illustrative case of minocycline-associated vasculitic neuropathy, with a review of the literature.Results: The first patient is a 60-year-old woman who developed axonal sensorimotor peripheral neuropathy after nitrofurantoin use, with a superficial radial nerve biopsy confirming vasculitis. The second patient is a 23-year-old woman, with a history of acne vulgaris treated with minocycline, who presented with a subacute right common peroneal mononeuropathy followed by a left deep peroneal mononeuropathy, with elevated antinuclear, perinuclear-antineutrophil cytoplasmic, and myleoperoxidase antibodies, and MPO titers, and a sural nerve biopsy showing large arteriole vasculitis. Finally, we provide a comprehensive review of previously published cases.Conclusions: Medications should be considered as a trigger for medication-induced vasculitic neuropathy. Accurate diagnosis would ensure timely treatment.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40477885","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

Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer. 生化和化学肌病是竞技游泳运动员线粒体疾病的孤立初始表现。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000406

Josef Finsterer

{"title":"Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer.","authors":"Josef Finsterer","doi":"10.1097/CND.0000000000000406","DOIUrl":"https://doi.org/10.1097/CND.0000000000000406","url":null,"abstract":"Abstract: Isolated and asymptomatic elevation of creatine kinase (hyper-CKemia) can be one of the initial manifestations of a mitochondrial disorder (MID). We present an asymptomatic patient with accidently detected isolated hyper-CKemia and respiratory chain dysfunction as indicators of a chemical and biochemical MID, respectively. A 23-year-old man who performed competitive sport (swimming) underwent workup for accidentally detected asymptomatic and isolated hyper-CKemia. Clinical neurologic examination was normal, but blood tests revealed elevation of creatine kinase (CK), aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and aldolase. Lactate stress testing on a bicycle ergometer was normal. Needle electromyography was noninformative, but muscle biopsy was indicative of a MID, and biochemical investigations revealed a combined complex-II, -III, and -IV defect. Hyper-CKemia persisted asymptomatically over the next 15 years, and he continued with his sports activities. In conclusion, asymptomatic hyper-CKemia together with multiple respiratory chain complex deficiencies can be the only manifestations of a MID over years. Asymptomatic chemical or biochemical MIDs may profit from continuous physical activity. Workup for isolated persisting hyper-CKemia may reveal subclinical mitochondrial pathology in single cases.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480314","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 : 2022-12-01 DOI: 10.1097/CND.0000000000000429

Mark B Bromberg

引用次数: 1

Genvoya-Associated and Simvastatin-Associated Noninflammatory and Nonautoimmune Myopathy: A Case Report and Literature Review. genvoya相关和辛伐他汀相关的非炎症性和非自身免疫性肌病:1例报告和文献综述

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000386

Merry Huang, Richard A Prayson, Yuebing Li

{"title":"Genvoya-Associated and Simvastatin-Associated Noninflammatory and Nonautoimmune Myopathy: A Case Report and Literature Review.","authors":"Merry Huang, Richard A Prayson, Yuebing Li","doi":"10.1097/CND.0000000000000386","DOIUrl":"https://doi.org/10.1097/CND.0000000000000386","url":null,"abstract":"Abstract: Patients with HIV have a higher incidence of rhabdomyolysis compared with the HIV negative population because of medication-related myotoxicity and drug-drug interactions. Statins and antiretroviral therapy have been previously reported to cause myopathy in patients with HIV when used alone or in combination. In this study, we describe a case of biopsy-proven noninflammatory and nonautoimmune myopathy associated with the use of simvastatin and Genvoya (elvitegravir/cobicistat/emtricitabine/tenofovir alafenamide fumarate) and review 3 previously reported similar cases. Our patient presented with acute proximal limb weakness and significantly elevated serum creatine kinase. Muscle biopsy revealed scattered degenerating and regenerating muscle fibers without evidence for an inflammatory process. She did not respond to empiric treatment with high-dose intravenous steroids and intravenous immunoglobulin. Her creatine kinase only began to downtrend after discontinuation of both simvastatin and Genvoya, and she returned to baseline function at 2-month follow-up. Our case highlights the importance of recognizing drug-drug interactions between HIV and statin medications in causing significant noninflammatory myopathy. In these patients, both categories of medications need to be discontinued for recovery.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40477883","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

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":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":"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":null,"pages":null},"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":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":"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":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":"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