Journal of Clinical Neuromuscular Disease最新文献

{"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}

{"title":"Clinical and Electrodiagnostic Findings in Anti-myelin-Associated Glycoprotein Antibody Polyneuropathy: A Single Center Review.","authors":"Joshua Nardin, Christopher Dittus, Rebecca Traub","doi":"10.1097/CND.0000000000000525","DOIUrl":"10.1097/CND.0000000000000525","url":null,"abstract":"<p><strong>Objectives: </strong>Anti-myelin-associated glycoprotein (MAG) polyneuropathy has been described as a progressive distal, sensorimotor, demyelinating polyneuropathy associated with immunoglobulin M paraprotein and low terminal latency index (TLI) on electrodiagnostic testing. We describe the features of patients with MAG antibody polyneuropathy at a single academic center.</p><p><strong>Methods: </strong>A retrospective search of the electronic medical record identified patients with high titer anti-MAG antibody polyneuropathy. Demographic characteristics, clinical features, and nerve conduction studies were reviewed. TLI was calculated for tested nerves.</p><p><strong>Results: </strong>Sixteen patients were identified. Mean age was 75 years. Sixty-nine percent were male. Twenty-five percent of patients had Waldenstrom macroglobulinemia. Half of patients had demyelinating features on nerve conduction studies. Mean TLI for the median, ulnar, fibular, and tibial nerves was 0.36, 0.41, 0.37, and 0.39 respectively. Average TLI for all nerves was 0.38. All but 1 patient received treatment-most often rituximab or intravenous immunoglobulin. Clinical improvement was noted in 56% of treated patients.</p><p><strong>Conclusions: </strong>This cohort of MAG antibody neuropathy patients had greater clinical variability than typically described.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 4","pages":"200-205"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289688","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":"Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.","authors":"Abel Thomas Oommen, Dipti Baskar, Kiran Polavarapu, Seena Vengalil, Saraswati Nashi, Veeramani Preethish-Kumar, Sai Bhargava Sanka, Madassu Keerthipriya, Priya Treesa Thomas, Gautham Arunachal, Atchayaram Nalini","doi":"10.1097/CND.0000000000000468","DOIUrl":"10.1097/CND.0000000000000468","url":null,"abstract":"<p><strong>Objectives: </strong>Myofibrillar myopathy (MFM) is a group of hereditary neuromuscular disorders with heterogenous manifestations in skeletal and cardiac muscles. Little is known about phenotype-genotype spectrum of MFM in Indian population. This study aims to characterize the clinico-genetic spectrum of 12 MFM ptients from India.</p><p><strong>Methods: </strong>A detailed description of the clinical, radiological and mutation spectrum of genetically confirmed MFM patients were done.</p><p><strong>Results: </strong>The M:F ratio was 3:1. Median age of onset, presentation and illness duration were 20 (range: birth - 57 years), 31.5 (range: 6-59 years) and 9 (range: 1 - 28 years) years, respectively. Consanguinity was noted in n = 3 (25%) and motor developmental delay in n = 2 (16.7%). Clinical features noted include ptosis (n = 5, 41.7%) and ophthalmoparesis (n = 3, 25%), bifacial weakness (n = 3, 25%), flaccid dysarthria (n = 3, 41.7%), neck weakness (n = 5, 41.7%), limb-girdle weakness (n = 5, 41.7%), foot drop (n = 1, 8.3%), distal upper limb weakness (n = 2, 16.7%), proximo-distal weakness (n = 5, 41.7%), exertional dyspnoea (n = 4, 33.3%) and joint contractures (n = 8, 66.7%). Cardiac involvement (n = 4, 33.3%) including restrictive, dilated, hypertrophic cardiomyopathy. Median creatine kinase level was 884U/L (range: 347 - 3070 U/L). Muscle biopsy revealed reduced/absent sarcoplasmic desmin expression. Muscle MRI in three patients with predominant fatty infiltration in gluteus maximus and minimus, sartorius, gracilus and semitendinosus in DES; anterior and posterior compartments of distal legs in CRYAB; glutei, hamstrings, adductors of hip and legs with relative sparing of quadriceps, adductor magnus, medial gastrocnemius and peroneal muscles in TTN. Next generation sequencing (NGS) showed the most common gene involved is DES (n = 7, 58.3%) followed by other genes such as HSPB8 (n = 1), FLNC (n = 1), CRYAB (n = 1), LDB3 (n = 1) and TTN (n = 1).</p><p><strong>Conclusions: </strong>This is the first study on clinic-genetic features of MFM from India. The various novel phenotypes noted in our cohort include: CRYAB with late symptom onset without cardiac or bulbar involvement, LDB3 with early onset limb girdle syndrome, ptosis and FLNC with distal myopathy and cardiomyopathy and HSPB8 with limb girdle syndrome and ptosis, further expanding the phenotypic spectrum of MFM.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 4","pages":"167-175"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289690","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":"Oculopharyngeal Muscular Dystrophy Is Not Responsive to Immunosuppressant Treatment.","authors":"Jodi Warman-Chardon, Ian C Smith, Bernard Brais","doi":"10.1097/CND.0000000000000530","DOIUrl":"10.1097/CND.0000000000000530","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":"144289691","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 Adult-Onset VLCAD Deficiency.","authors":"Ishwarya Thiruvuru, P Philo Hazeena, Rithvik Ramesh, Sundar Shanmugam, Deepa Avadhani, Lakshmi Narasimhan Ranganathan","doi":"10.1097/CND.0000000000000524","DOIUrl":"10.1097/CND.0000000000000524","url":null,"abstract":"<p><strong>Abstract: </strong>Mitochondrial fatty acid β-oxidation disorders are autosomal recessive disorders that impair mitochondrial β-oxidation and transport of fatty acids. These disorders have diverse clinical presentations. The neonatal-onset form presents with hyperammonemia, transient hypoglycemia, metabolic acidosis, cardiomyopathy, and sudden death. The Late-onset form presents with neuropathy, myopathy, and retinopathy. We report a case of a 25-year-old man who presented with episodic weakness, exercise intolerance, myalgia, and rhabdomyolysis. Whole-exome sequencing identified a pathogenic variant in acyl-Coenzyme A dehydrogenase very long chain gene, confirming a diagnosis of very long-chain acyl-Coenzyme A dehydrogenase deficiency (autosomal recessive).</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 4","pages":"196-199"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289686","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":"David Lacomis, Michael Isfort","doi":"10.1097/CND.0000000000000523","DOIUrl":"10.1097/CND.0000000000000523","url":null,"abstract":"<p><strong>Abstract: </strong>This update begins with the incidence and features of statin-associated muscle symptoms, which may often be misattributed. Articles on potential muscle mitochondria dysfunction from statins follow, along with recommendations for possibly avoiding statins in some patients with genetic myopathies. Next, autoimmune myopathies, including immune-mediated necrotizing myopathy, myositis with antimitochondrial antibodies, and overlap myositis with lupus, as well as the role of myxovirus protein A identification in muscle specimens, are addressed. The next section includes reports on the significance of elevated serum aldolase with normal creatine kinase and recommended approaches to evaluate a patient with rhabdomyolysis. A cluster of reports on muscle imaging, particularly using ultrasound and magnetic resonance imaging, are covered. They include studies of inherited and inflammatory myopathies and neck extensor myopathy on topics such as imaging features, patterns of involvement, diagnostic utility, and correlation with histopathology. Last, there are discussions on mexiletine versus lamotrigine for nondystrophic myotonias and the treatment of fatty acid oxidation disorders in adults.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 3","pages":"152-166"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504626","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":"Quantifying Oculomotor Fatigability for Early Detection of Myasthenia Gravis.","authors":"Ye Lin Kim, Thanh Tin Nguyen, Seung-Bae Hwang, Jin-Ju Kang, Juhee Chae, Sun-Young Oh","doi":"10.1097/CND.0000000000000513","DOIUrl":"10.1097/CND.0000000000000513","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this prospective, longitudinal study was to validate video-oculography (VOG) for early detection of myasthenia gravis (MG) in patients with clinical suspicion of MG but lacking confirmatory laboratory results.</p><p><strong>Methods: </strong>Thirteen individuals suspected of having MG were studied using a 3-dimensional VOG system. Oculomotor fatigability, defined as the decrement (%) between the second and the last 5 average measures, was calculated.</p><p><strong>Results: </strong>Significant reductions in oculomotor ranges were found, exceeding previous cutoff values for horizontal saccades (16.4 ± 9.8%), vertical saccades (18.7 ± 12.6%), horizontal smooth pursuit (15.7 ± 6.0%), and vertical smooth pursuit (27.2 ± 17.4%). Despite initially negative laboratory tests, many participants later tested positive on the neostigmine test (92.3%) and repetitive nerve stimulation tests (69.2%).</p><p><strong>Conclusions: </strong>VOG is a reliable diagnostic tool for MG, particularly useful for seronegative patients, allowing for earlier and more accurate diagnosis than conventional methods.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 3","pages":"122-132"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504682","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":"RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy.","authors":"Chinmayee B Nagaraj, Cuixia Tian, Hani Kushlaf","doi":"10.1097/CND.0000000000000518","DOIUrl":"10.1097/CND.0000000000000518","url":null,"abstract":"<p><strong>Abstract: </strong>Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery-Dreifuss muscular dystrophy type 6. Emery-Dreifuss muscular dystrophy is characterized by joint contractures in childhood, progressive muscle weakness that starts in a humeroperoneal distribution and later extends to scapular and pelvic girdle muscles, and cardiac involvement that include conduction defects or cardiomyopathy. In this study, we report diagnosis of a patient with Emery-Dreifuss muscular dystrophy type 6 after identification of a novel deletion in FHL1, whose pathogenicity was clarified by RNA sequencing.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 3","pages":"148-151"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504687","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}