Journal of Clinical Neuromuscular Disease最新文献_第3页

An Initial Diagnosis of the Myopathic Form of Carnitine Palmitoyl Transferase Type II Deficiency Made in a 65-year-Old. 肉碱棕榈酰转移酶 II 型缺乏症肌病形式在一名 65 岁老人身上的初步诊断。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000506

Floyd D Silva, Elina Zakin

引用次数: 0

Diagnostic Difficulty in a Girl With Anti-Signal Recognition Particle Myopathy With a Slow Progressive Course. 一名女孩的抗信号识别粒子肌病诊断困难，且病程进展缓慢。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-12-01 DOI: 10.1097/CND.0000000000000489

Ken Imai, Takenori Nastume, Maki Shirai, Mistuo Motobayashi, Akihiko Ishiyama, Shigeaki Suzuki, Ichizo Nishino, Akinori Nakamura, Yuji Inaba

引用次数: 0

Progressive Multifocal Leukoencephalopathy in Myasthenia Gravis With Selective Hypogammaglobulinemia. 伴有选择性低丙种球蛋白血症的肌无力 Gravis 进行性多灶性白质脑病

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000497

Rachana K Gandhi Mehta, James B Meiling

引用次数: 0

Seronegative Isaac Syndrome Presenting as Focal Limb Stiffness Responsive to Plasma Exchange Therapy. 血清阴性艾萨克综合征表现为局部肢体僵硬，对血浆置换疗法有反应。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000488

Nadia Khalil, Andrea Medina, Anthony Bradshaw

引用次数: 0

Utility of the Repetitive Nerve Stimulation Test and Needle EMG in the Trapezius Muscle for the Early Diagnosis of ALS. 重复神经刺激测试和斜方肌针刺肌电图在早期诊断渐冻人症中的实用性。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000479

Kazusa Takahashi, Yuichi Hamada, Masahito Kobayashi, Shunsuke Kobayashi, Takamichi Kanbayashi, Yuki Hatanaka, Takahiro Nakayama, Ichiro Imafuku, Hiromasa Matsuno, Yasuyuki Iguchi, Fumiaki Katada, Toshio Fukutake, Tetsuo Ando, Takashi Mikata, Toru Usui, Katsuyuki Uchino, Kazutoshi Nishiyama, Masahiro Sonoo

{"title":"Utility of the Repetitive Nerve Stimulation Test and Needle EMG in the Trapezius Muscle for the Early Diagnosis of ALS.","authors":"Kazusa Takahashi, Yuichi Hamada, Masahito Kobayashi, Shunsuke Kobayashi, Takamichi Kanbayashi, Yuki Hatanaka, Takahiro Nakayama, Ichiro Imafuku, Hiromasa Matsuno, Yasuyuki Iguchi, Fumiaki Katada, Toshio Fukutake, Tetsuo Ando, Takashi Mikata, Toru Usui, Katsuyuki Uchino, Kazutoshi Nishiyama, Masahiro Sonoo","doi":"10.1097/CND.0000000000000479","DOIUrl":"10.1097/CND.0000000000000479","url":null,"abstract":"Objectives: To document the utility of decremental responses in the repetitive nerve stimulation test (RNS) and spontaneous activities in needle electromyography (EMG) in the trapezius muscle for the diagnosis of amyotrophic lateral sclerosis.Methods: Subjects were retrospectively identified from our EMG database. Cervical spondylosis was represented as a disease control group. We investigated the sensitivity and specificity of RNS and EMG in the trapezius muscle and those of diagnostic criteria including the Gold Coast criteria (GCC).Results: We reviewed 120 patients with amyotrophic lateral sclerosis and 17 patients with cervical spondylosis. \"RNS or EMG\" achieved the highest sensitivity (85%). The specificity was the highest for RNS (94%). Addition of RNS of the deltoid muscle achieved 98% sensitivity in the upper-limb onset amyotrophic lateral sclerosis. The sensitivity of the GCC was very high (88%).Conclusions: Neurophysiological parameters investigated in this study having close to 100% specificities or sensitivities are useful as complements to the GCC.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009646","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 Multiple Cranial Neuropathies in Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report and Scoping Review of the Literature. 慢性炎症性脱髓鞘性多发性神经病中的急性多发性颅神经病：病例报告和文献综述。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000495

Shima Shahjouei, Michelle Calmet, James Grogan, Mansoureh Mamarabadi

{"title":"Acute Multiple Cranial Neuropathies in Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report and Scoping Review of the Literature.","authors":"Shima Shahjouei, Michelle Calmet, James Grogan, Mansoureh Mamarabadi","doi":"10.1097/CND.0000000000000495","DOIUrl":"10.1097/CND.0000000000000495","url":null,"abstract":"Objectives: Cranial nerve (CN) involvement is not a common feature of typical chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with acute presentation of CN palsy in CIDP may be misdiagnosed and treated as other pathologies.Methods: We report a patient with multiple cranial neuropathies at the onset of CIDP in detail. In addition, we reviewed a large cohort of patients with CN involvement in CIDP and summarized their characteristics and clinical findings.Results: We presented a 28-year-old woman who presented with progressive weakness and involvement of CN III, VII, X, XII in the subacute phase who was diagnosed as CIDP and was treated accordingly. A scoping review of the literature resulted in a total of 59 patients with available patient-level data [61.2% men, median age of 32 (Q1-Q3; 20-51.5) years]. CN impairment was present in the acute phase of the polyneuropathy in 10 out of 43 patients (23.3%), while it took a median of 7.7 [Q1-Q3; 3-13] years for other patients to present CN palsy. Sensitivity analysis did not reveal any difference among patients with acute-phase presentation of CN symptoms (N = 11) compared with those with delayed CN palsy (N = 33) in terms of demographics, patterns of CN involvement, associated diminished sensorimotor findings, or relapse. However, patients with acute presentation of CN palsy underwent plasmapheresis approximately 4 times more than those with delayed CN presentations (45.5% vs. 12.1%, P = 0.02).Conclusion: In this case presentation and review study, we observed that in one-fourth of patients with CIDP and CN neuropathy, CN involvement occurred in the acute phase. This finding indicates the necessity of considering CIDP among differential diagnoses of patients with CN involvement and polyneuropathies.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"32-41"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009640","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 Myopathy Literature? 肌病文献中有哪些内容？

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000484

Michael Isfort, David Lacomis

{"title":"What is in the Myopathy Literature?","authors":"Michael Isfort, David Lacomis","doi":"10.1097/CND.0000000000000484","DOIUrl":"10.1097/CND.0000000000000484","url":null,"abstract":"Abstract: This update begins with a section on inflammatory myopathies covering inclusion body myositis in younger patients, the possibility of a pathogenic role for anti-cN1A antibodies, and a negative trial of arimoclomol in inclusion body myositis. The potential study of Janus kinase inhibitors in dermatomyositis is discussed as well as the possible role of targeted therapy for immune checkpoint inhibitor neuromuscular complications. Next, studies of disease-modifying or potential disease-modifying therapies for inherited myopathies are addressed including the encouraging follow-up study of gene replacement therapy for Duchenne muscular dystrophy (DMD), a negative trial of tamoxifen in DMD, and the complex topic of gene therapy for X-linked myotubular myopathy. A newly identified condition of muscular dystrophy from 3-hydroxy-3-methylglutaryl-CoA reductase mutations is addressed along with possible therapy. Other papers regarding GNE myopathy and long-term outcome of enzyme replacement therapy in infantile onset Pompe disease round out that section. Updates on the expanding spectra of anoctamin-5 myopathies, caveolinopathies, and congenital and mylagic myopathies from CACNA1S mutations follow as well as extensive discussion of Valosin containing protein proteinopathies, comprehensive management of Becker muscular dystrophy, and gastrointestinal complications in adult DMD.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"16-31"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009647","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

Fluoroquinolone-Induced Demyelinating Polyneuropathy. 氟喹诺酮诱发的脱髓鞘性多发性神经病

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000496

Mustafa Al-Chalabi, Armando Martinez Salazar, Anthony Bradshaw

引用次数: 0

Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family. 韦兰德远端肌病创始人突变的多种表型表现，同一家族中同时存在肌病和肌萎缩侧索硬化症。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000501

Nicholas Purcell, Georgios Manousakis

引用次数: 0

Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings. 30 年后诊断自噬过多的 X 连锁肌病：遗传学、超声波和电诊断结果。

Journal of Clinical Neuromuscular Disease Pub Date : 2024-09-01 DOI: 10.1097/CND.0000000000000500

Vanessa Dwairi, Alaina Giacobbe, Sasa Zivkovic, David Lacomis

{"title":"Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings.","authors":"Vanessa Dwairi, Alaina Giacobbe, Sasa Zivkovic, David Lacomis","doi":"10.1097/CND.0000000000000500","DOIUrl":"10.1097/CND.0000000000000500","url":null,"abstract":"Abstract: X-linked myopathy with excessive autophagy is a rare disorder caused by a mutation in the vacuolar ATPase assembly factor gene which causes slowly progressive early onset proximal weakness and loss of ambulation by the age of 50-70 years. Electrodiagnostic (EDx) testing usually shows widespread complex repetitive and myotonic discharges, even in muscles unaffected clinically. We report a 65-year-old man who presented with progressive proximal weakness since his teenage years. Extensive workup over 30 years revealed inconclusive EDx and muscle histopathology findings. The diagnosis was finally made with genetic testing. Subsequent neuromuscular ultrasound was more informative of disease severity than repeat EDx and directed a muscle biopsy that showed an autophagic vacuolar myopathy and the novel identification of vacuoles in capillary endothelial cells. Although genetic testing is required for confirmation, in milder cases of X-linked myopathy with excessive autophagy, neuromuscular ultrasound may aid in diagnosis even when EDx findings are inconclusive.","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 1","pages":"12-15"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009641","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