Journal of Clinical Neuromuscular Disease最新文献

{"title":"Diagnostic Tool Predicting Results of Electrodiagnostic Tests in Patients Presenting With Musculoskeletal Symptoms.","authors":"Najwa Al-Bustani, Zulfiqar Hussain, Kim Byrn, Rehmat Karim","doi":"10.1097/CND.0000000000000529","DOIUrl":"10.1097/CND.0000000000000529","url":null,"abstract":"<p><strong>Objectives: </strong>Patients presenting with musculoskeletal symptoms are fairly common in any neurologist practice, their presentation raises concern of underlying radiculopathy as a cause of their symptoms. The role of electrodiagnostic study has been variable in such patients. Creating a diagnostic tool will be of most help to provide physicians of predictive value of such tests before ordering and help guide them in finding the most appropriate test.</p><p><strong>Methods: </strong>Retrospective chart review study of 444 patients older than 18 years. The patients were referred to the electrodiagnostic laboratory with musculoskeletal symptoms such as neck, back, or limb pain; extremity numbness; or to rule out radiculopathy.</p><p><strong>Results: </strong>A total of 308 patients met predefined inclusion criteria. Variables such as age, extremity numbness, back pain, and other symptoms were identified as significant predictors for abnormal results. A diagnostic tool was developed using these variables, scoring each as normal (0) or abnormal (1), with age as the only numerical input. For nerve conduction study (NCS) prediction, significant factors included age [P < 0.01, odds ratio (OR) 0.95], extremity numbness (P = 0.03, OR 0.42), other symptoms (P = 0.04, OR 0.29), and normal magnetic resonance imaging (P = 0.02, OR 2.99). For electromyography (EMG) prediction, age (P < 0.01, OR 0.95), back pain (P = 0.02, OR 0.43), and other symptoms (P = 0.03, OR 0.29) were significant. The logistic regression models for predicting abnormal NCS and EMG exhibited areas under the receiver operating curves of 0.807 and 0.777, respectively. With 95% specificity, the NCS model had a sensitivity of 24.10%, positive predictive value of 68.97%, and negative predictive value of 72.84%, while the EMG model had a sensitivity of 32.14%, positive predictive value of 75%, and negative predictive value of 74.67%.</p><p><strong>Conclusions: </strong>This study highlights the potential for using a scoring system to predict NCS and EMG outcomes based on key clinical variables.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"145-150"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148145010","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}

{"title":"When Variants Collide: Mixed Clinical Presentation of Pharyngeal-Cervical-Brachial and Acute Motor Axonal Neuropathy Features in Guillain-Barré Syndrome.","authors":"Claudy Sarpong, Lauren Han, Ashley Su, Krupa Patel, Theresa LaBarte","doi":"10.1097/CND.0000000000000562","DOIUrl":"https://doi.org/10.1097/CND.0000000000000562","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"168-169"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144966","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}

{"title":"Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction.","authors":"Caroline Kramarz, Julian Blake, Mary M Reilly, Radha Ramachandran, Alexander M Rossor","doi":"10.1097/CND.0000000000000557","DOIUrl":"https://doi.org/10.1097/CND.0000000000000557","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"166-167"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144854","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}

{"title":"Diagnostic Nerve Ultrasound of Lateral Femoral Cutaneous Mononeuropathy With Focal Neural and Fascicular Enlargement.","authors":"Ali Askari, James B Meiling","doi":"10.1097/CND.0000000000000565","DOIUrl":"https://doi.org/10.1097/CND.0000000000000565","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"170-172"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144945","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}

{"title":"Phenotype Spectrum in VRK1 Pathogenic Variants.","authors":"Elia Gebran Malek, Suur Biliciler, Kazim Sheikh","doi":"10.1097/CND.0000000000000560","DOIUrl":"10.1097/CND.0000000000000560","url":null,"abstract":"<p><strong>Abstract: </strong>Vaccinia-Related-Kinase-1 (VRK1) gene pathogenic variants have been identified in patients presenting with a slowly progressive symmetric distal weakness with electrophysiologic findings predominantly suggestive of pure motor axonal neuropathy/neuronopathy. VRK1-related presentations exhibit a considerable phenotypic heterogeneity with a proportion of patients presenting with features suggestive of multisystem involvement. Notably, the severity of the phenotype might have a correlation with the earlier age of onset. We present a case of a 33-year-old patient with a VRK1 pathogenic variant with clinical and electrophysiologic findings of distal symmetric motor involvement along with sensory manifestation, bilateral cataracts, and cryptorchism. A brief literature review of phenotypic spectrum associated with pathogenic variants in VRK1 gene is also presented.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"151-155"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148145018","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}

{"title":"Development and Validation of the Inclusion Body Myositis-Health Index: A Disease-Specific Patient-Reported Outcome Measure for Use in Clinical Trials and Drug-Labeling Claims.","authors":"Charlotte Irwin, Spencer Rosero, Jamison Seabury, Jennifer Weinstein, Charlotte Engebrecht, Anika Varma, Christine Zizzi, John Heatwole, Perya Bhagchandani, Cynthia Gibson, Nuran Dilek, Bill Martens, Chad Heatwole","doi":"10.1097/CND.0000000000000564","DOIUrl":"10.1097/CND.0000000000000564","url":null,"abstract":"<p><strong>Background and objectives: </strong>As novel therapeutic interventions are considered for individuals with inclusion body myositis (IBM), valid outcome measures are needed to quantify therapeutic gain and disease progression during clinical trials. To meet this need, we developed and validated the Inclusion Body Myositis-Health Index (IBM-HI), a regulatory-grade, disease-specific, patient-reported outcome measure capable of measuring a patient's perception of their point-in-time disease burden.</p><p><strong>Methods: </strong>We conducted an international cross-sectional study where we asked participants with IBM about the most prevalent and impactful symptoms affecting their everyday lives. Symptoms identified in the cross-sectional survey were included in the first version of the IBM-HI. We subsequently used factor analysis, beta testing, test-retest reliability, and known groups analysis to validate, refine, and optimize the instrument.</p><p><strong>Results: </strong>Five hundred and sixty-nine individuals with IBM completed a survey to identify what issues and symptoms are most important to include and measure in an IBM-specific outcome measure. Fifteen individuals with IBM beta tested the first version of the IBM-HI and 21 participants completed test-retest reliability testing at baseline and two weeks. Participants found the IBM-HI to be easy to use, comprehensive, and highly relevant to their condition. Each of the IBM-HI questions and all 13 subscales were found to be reliable over a 14-day period (intraclass correlation coefficient = 0.95). Known groups assessments determined that the IBM-HI and its subscales are able to differentiate between predefined clinical and demographic subgroups expected to experience higher or lower levels of disease burden.</p><p><strong>Conclusions: </strong>The IBM-HI is a reliable comprehensive instrument capable of measuring a wide spectrum of symptoms experienced by individuals with IBM. This instrument adds to existing IBM clinical trial infrastructure and provides clinicians and researchers with a mechanism to quantify how patients feel and function in the context of a therapeutic trial.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"124-139"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148145027","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}

{"title":"Case Report: Atypical Focal Axial Presentation of Facioscapulohumeral Muscular Dystrophy Type 1.","authors":"Cole Zweber, Arman Singh Grewal, Muhannad Seyam, Rup Tandan, Waqar Waheed","doi":"10.1097/CND.0000000000000563","DOIUrl":"10.1097/CND.0000000000000563","url":null,"abstract":"<p><strong>Abstract: </strong>Although facioscapulohumeral muscular dystrophy (FSHD) is known and functionally named for the typical findings of progressive weakness of the facial, scapular, and upper arm muscles, there is a growing body of evidence describing atypical presentations, particularly involving the midline musculature. We report 2 notable such cases of atypical FSHD presentation: (1) a 36-year-old postpartum woman with sparing of the usually involved muscles, but who was found to have significant atrophy of the lower abdominal muscles, pectus excavatum, and a positive Beevor sign and (2) a 65-year-old man with a history of spine surgery, with marked lumbar paraspinal atrophy, left scapular winging, and lordosis. The patients in both cases were genetically tested and found to have 4q35 deletion consistent with FSHD1. These cases highlight the importance of recognizing atypical presentations of FSHD.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"140-144"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144968","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}

{"title":"Neuroimmune Crosstalk: Peripheral Nervous System Disorders After Immune Checkpoint Inhibitors.","authors":"Ayşegül Gündüz, Merve İriş, Zeliha Birsin, Zeynep Hande Turna, Mustafa Özgüroğlu, Nurten Uzun Adatepe","doi":"10.1097/CND.0000000000000554","DOIUrl":"10.1097/CND.0000000000000554","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to identify the frequency and types of peripheral nervous system involvement, associated clinical features, treatment options, and prognosis in patients receiving immune checkpoint inhibitors (ICIs) for the treatment of malignancy.</p><p><strong>Method: </strong>This is a retrospective cross-sectional study. We included the data of patients who presented to our electromyography laboratory with neurologic complaints and were using ICIs between January 2019 and August 2024. We retrieved all medical and electrophysiologic records. In patients with multiple examinations, the first appropriate examination was included. Demographic data, oncologic diagnoses, neurologic diagnoses, and medications used were extracted from patient files and are presented here.</p><p><strong>Results: </strong>During the study period, we reviewed the records of 31 patients. Seven patients were excluded. The rough prevalence of newly developed neurologic findings attributed to peripheral nervous system involvement after using ICIs was 8%. The most common peripheral complications were sensory or sensory-motor axonal polyneuropathy and myopathy. The most commonly associated medications for these neurologic manifestations were pembrolizumab, nivolumab, and atezolizumab. Nonambulatory patients received immunomodulatory therapy and demonstrated functional improvement.</p><p><strong>Conclusions: </strong>ICIs have been increasingly used in cancer treatment and can cause immune-related effects. As demonstrated in our study, the most common peripheral nervous system involvement associated with ICIs is axonal polyneuropathy, followed by myopathy. The type of ICI, cancer type, and prior chemotherapeutic treatments the patients previously received may play a role in the occurrence of these neurologic complications.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"156-165"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144953","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}

{"title":"What Is in the Myopathy Literature?","authors":"Michael Isfort, David Lacomis","doi":"10.1097/CND.0000000000000559","DOIUrl":"10.1097/CND.0000000000000559","url":null,"abstract":"<p><strong>Abstract: </strong>This update begins with a discussion of treatable lipid storage myopathies associated with the use of sertraline and ranolazine. We then turn to monoclonal gammopathy-associated myopathies including a more recently identified disorder that is also treatment-responsive, monoclonal gammopathy-associated glycogen storage myopathy. Several reports on statins and muscle symptoms, toxic myopathy, and immune-mediated necrotizing myopathy follow. Other autoimmune myopathy topics are highlighted. Then, muscular dystrophies are covered with a focus on dystrophinopathies, limb-girdle muscular dystrophy, and facioscapulohumeral muscular dystrophy. Pompe disease follows with a focus on enzyme replacement therapy data. A short section on congenital myopathies precedes a review of reports on myotonic dystrophies and nondystrophic myotonias.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"63-81"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327649","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}

{"title":"Novel Pathogenic Variants in the SBF2 Gene in Two Siblings With Charcot-Marie-Tooth Disease Type 4B2.","authors":"Aishani Vengala, Ruthwik Duvuru, Aravindhan Veerapandiyan","doi":"10.1097/CND.0000000000000550","DOIUrl":"https://doi.org/10.1097/CND.0000000000000550","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 3","pages":"122-123"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147327667","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}