Journal of Clinical Neuromuscular Disease最新文献

{"title":"Nitrous Oxide-Associated Myelopolyneuropathy-A Case Series.","authors":"Michele Cavalli, Andra Ezaru, Adrien Olivero, Sabrina Sacconi, Anca Negrila, Angela Puma, Luisa Villa, Véronique Bourg, Cristina Tiu, Nicolae Grecu","doi":"10.1097/CND.0000000000000498","DOIUrl":"10.1097/CND.0000000000000498","url":null,"abstract":"<p><strong>Objectives: </strong>Nitrous oxide is a multipurpose gas that has recently gained attention because of its use as a recreational drug and the associated neurological complications of abuse.</p><p><strong>Methods: </strong>Seven patients were included, and clinical, electrodiagnostic, imaging, and serological data were retrospectively analyzed.</p><p><strong>Results: </strong>All patients presented with various degrees of sensory impairment, gait disorder, muscle weakness, or ataxia, mainly involving the lower limbs. Electrodiagnostic studies showed a predominantly motor neuropathy, with axonal, demyelinating, or mixed features. Spinal magnetic resonance imaging showed posterior cord lesions in cervical regions, with 2 patients presenting concomitant thoracic cord lesions. Homocysteine levels were elevated in all patients.</p><p><strong>Conclusions: </strong>Nitrous oxide abuse is known to be connected to the development of both polyneuropathy and myelopathy. Better understanding of the physiological, clinical, and paraclinical aspects of this pathology is needed to make a correct differential diagnosis and conduct and adequate treatment.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993954","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":"The Compound Muscle Action Potential in LEMS.","authors":"Thomas Zambelis, Evangelos Anagnostou, Vassiliki Zouvelou, Nikolaos Karandreas","doi":"10.1097/CND.0000000000000532","DOIUrl":"https://doi.org/10.1097/CND.0000000000000532","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"24-26"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993942","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":"Transforming Care of Duchene Muscular Dystrophy in Low-Resource Setting Through Community-Led Initiatives.","authors":"Muhammad Abdullah Humayun, Anum Akbar, Amna Zaheer","doi":"10.1097/CND.0000000000000533","DOIUrl":"https://doi.org/10.1097/CND.0000000000000533","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"22-24"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993932","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":"A Case of Progressive Flaccid Quadriparesis in a Young Woman: Diagnostic Pitfalls and the Role of Backward Reasoning.","authors":"Sepideh Zolfaghari, Ali Shoeibi, Morteza Saeidi, Fariba Zemorshidi, Parvaneh Layegh","doi":"10.1097/CND.0000000000000535","DOIUrl":"https://doi.org/10.1097/CND.0000000000000535","url":null,"abstract":"<p><strong>Abstract: </strong>A 19-year-old woman presented with acute progressive generalized limb weakness and inability to ambulate, after a recent upper respiratory tract infection. Given the flaccid quadriparesis and preceding infection, Guillain-Barré syndrome (GBS) was initially considered. This case aims to illustrate the diagnostic challenges and the critical role of backward reasoning in differentiating GBS mimickers. Neurologic examination, electrodiagnostic studies, brain MRI, and hematologic testing were performed. Motor nerve conduction and late responses were normal, whereas sensory studies indicated pure distal sensory polyneuropathy. MRI revealed cervical spinal cord hyperintensities, and blood tests showed macrocytic anemia and low serum vitamin B12. The diagnosis of severe vitamin B12 deficiency was established. The patient received cobalamin replacement therapy, and significant clinical improvement was observed for a 3-month follow-up period. Vitamin B12 deficiency can mimic GBS, particularly in acute settings. Accurate clinical reasoning, including the application of backward reasoning when atypical findings emerge, is essential to avoid misdiagnosis and ensure timely treatment in patients with acute neurologic presentations.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"18-21"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993916","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":"Very-Late Onset Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline Use: A Case Report.","authors":"Allison R Valerius, Thapat Wannarong, Sofia Rael, Camilo Bermudez, Rafid Mustafa, Scott Eggers, Margherita Milone, Teerin Liewluck, Marcus V Pinto","doi":"10.1097/CND.0000000000000528","DOIUrl":"10.1097/CND.0000000000000528","url":null,"abstract":"<p><strong>Objectives: </strong>Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare, yet treatable, disorder of fatty acid β-oxidation with clinical presentations ranging from neonatal to very-late-onset forms. Very-late-onset MADD often has no identifiable genetic mutations and has been linked to sertraline exposure.</p><p><strong>Methods: </strong>We report a case of very late-onset MADD with negative genetic testing, potentially associated with sertraline use.</p><p><strong>Results: </strong>A 75-year-old woman presented with 3-year history of progressive, proximal-predominant weakness, dysphagia, and dysarthria. Examination revealed severe axial and proximal-predominant limb weakness. Laboratory studies showed elevation of multiple acylcarnitines. Muscle biopsy demonstrated a lipid storage myopathy. Comprehensive genetic testing was negative. Sertraline use was identified as a potential trigger. Treatment with riboflavin, coenzyme Q10, and levocarnitine, along with discontinuation of sertraline, led to rapid clinical improvement within weeks.</p><p><strong>Discussion: </strong>This case supports the recent findings that sertraline can be associated with very-late-onset MADD. Neurologists should maintain a high index of suspicion for MADD in sertraline-treated patients with unexplained weakness because prompt initiation of riboflavin is crucial for strength recovery.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"14-17"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994000","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":"A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.","authors":"Christina Chrisman, Ritwik Keshav, Christopher J Record, David Shprecher, Saif Haddad, Michael Crincoli, Mary M Reilly","doi":"10.1097/CND.0000000000000534","DOIUrl":"10.1097/CND.0000000000000534","url":null,"abstract":"<p><strong>Objectives: </strong>X-linked Charcot-Marie-Tooth disease Type 1 (CMTX1), caused by gap junction beta-1 (GJB1) mutations, is the second most common form of CMT. Patients present with length-dependent sensorimotor polyneuropathy and split hand syndrome. Males are more severely affected; females show variable symptoms because of skewed X-inactivation. This study reclassifies a GJB1 variant of uncertain significance as pathogenic using American College of Medical Genetics criteria.</p><p><strong>Methods: </strong>A family with neurologic symptoms underwent clinical evaluation, electrodiagnostic studies, genetic testing, and imaging.</p><p><strong>Results: </strong>Affected individuals exhibited a sensorimotor polyneuropathy in an X-linked inheritance pattern with males having earlier, more severe symptoms. Characteristic findings included split hand syndrome and the suggestion of stroke-like episodes. Genetic testing revealed a GJB1 c.841T>C p.(Ser281Pro) variant. Analysis met American College of Medical Genetics criteria (1 strong, 3 moderate, 1 supporting) for pathogenicity.</p><p><strong>Conclusions: </strong>The Ser281Pro GJB1 variant meets pathogenic criteria for CMTX1, extending known pathogenic regions beyond the C-terminal Arg220 codon.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"9-13"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993919","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":"Neuromuscular Ultrasound of a Common Fibular Nerve Intraneural Ganglion Cyst With Selective Involvement of the Deep Fibular Fascicles.","authors":"Jessica N Buttinger, Julia T Carter, James B Meiling","doi":"10.1097/CND.0000000000000537","DOIUrl":"https://doi.org/10.1097/CND.0000000000000537","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 1","pages":"26-27"},"PeriodicalIF":0.0,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993902","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":"Addressing a Critical Gap: The Need for Pregnancy-Safe Complement Inhibitors in Myasthenia Gravis.","authors":"Bushra Nasim, Muhammad Hassan Asif, Muhammad Zohair","doi":"10.1097/CND.0000000000000531","DOIUrl":"10.1097/CND.0000000000000531","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 4","pages":"207-209"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289687","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":"How Well do We Evaluate Small Fiber Neuropathy?: A Survey of American Academy of Neurology Members.","authors":"Sujata Thawani, Monica Chan, Tasha Ostendorf, Nellie Adams, Saketh Dontaraju, Brian C Callaghan, Thomas H Brannagan","doi":"10.1097/CND.0000000000000502","DOIUrl":"10.1097/CND.0000000000000502","url":null,"abstract":"<p><strong>Background: </strong>Clinical evaluation of distal symmetric polyneuropathy (DSP), which can include small fiber neuropathy (SFN), differs among neurologists, neuromuscular specialists, and internists. The American Academy of Neurology (AAN) 2009 Practice Parameter guides evaluation of DSP, but there are no guidelines or AAN practice parameters for the evaluation of SFN.</p><p><strong>Objective: </strong>Determine how neurologists evaluate and test for SFN in their clinical practice and compare responses between neuromuscular (NM) and non-neuromuscular specialists (non-NM).</p><p><strong>Design/methods: </strong>Eight hundred randomly selected AAN members, which included 400 members who indicated NM medicine to be a primary or secondary specialty, were selected to answer a survey about SFN. Respondents answered a survey instrument with a list of 44 serum tests and procedures for different neuropathy clinical scenarios.</p><p><strong>Results: </strong>The survey response rate was 29.3% (234/798), with 48.8% (N = 114) indicating that their primary specialty was neuromuscular. For an initial evaluation of distal symmetric SFN, respondents ordered a mean of 12 tests (SD 5.8) with a range of 0-26 tests. There was no statistically significant difference between the mean number of tests ordered by neuromuscular versus non-neuromuscular specialists. The 5 most common overall responses were complete blood count (87%), vitamin B12 (86%), basic metabolic panel (84%), thyroid stimulating hormone (78%), and hemoglobin A1c (77%). For a secondary evaluation of etiologies of distal symmetric SFN, 52% of non-neuromuscular specialists (95% CI, 42%-61%) versus 35% of neuromuscular specialists (95% CI, 26%-45%) would order a paraneoplastic panel. There was significant disparity in ordering a skin biopsy for intraepidermal nerve fiber density, with 65% of neuromuscular specialists (95% CI, 55%-74%) indicating that they would order this test compared with 38% of non-neuromuscular specialists (95% CI, 29%-48%).</p><p><strong>Conclusions: </strong>The recommended studies with the highest yield for finding a cause of DSP were not universally ordered. There is variability in approaches to diagnosing SFN and searching for a possible etiology. The development of an AAN practice parameter for SFN may help promote consistent practice among neurologists of all subspecialties.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 4","pages":"184-195"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289689","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 Literature.","authors":"Mark B Bromberg","doi":"10.1097/CND.0000000000000526","DOIUrl":"10.1097/CND.0000000000000526","url":null,"abstract":"<p><strong>Abstract: </strong>This issue of What Is in the Literature focuses on articles over the past year on clinical aspects of motor neuron disease, including amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Disease-modifying treatment for ALS remains a challenge as 2 formal drug trials did not hold up to retesting. There are new thoughts based on a multistep model to partially explain why ALS develops relatively late in life. New information on fluid biomarkers, sex differences, efficacy of medical marijuana for common symptoms, and cognitive dysfunction are discussed. For the clinic, there are updated guidelines for multidisciplinary management. Other articles address how frequently the topic of sexual health is brought up in the clinic, and insights into how patients view end-of-life issues and quality of life when using tracheal ventilation. PLS has diagnostic challenges and practical aspects, which are reviewed.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 4","pages":"176-183"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289692","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}