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

Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation. 伴随对接蛋白7突变的终生类固醇反应性家族性肌病。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000398

Shin J Oh, Peter H King, Alice Schindler

引用次数: 2

Rituximab as Maintenance Therapy in Multifocal Motor Neuropathy: Report of Two Cases. 利妥昔单抗维持治疗多灶性运动神经病变2例报告。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000412

Soumya Sundaram, Vaibhav Tandon, Sruthi S Nair

引用次数: 0

Double Seropositive Myasthenia Gravis Successfully Treated With Rituximab. 利妥昔单抗成功治疗双血清阳性重症肌无力。

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI: 10.1097/CND.0000000000000410

Vasiliki Zouvelou, Erasmia Psimenou

引用次数: 1

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":" ","pages":"85-94"},"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":" ","pages":"103-105"},"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":" ","pages":"75-79"},"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":" ","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