Journal of Clinical Neuromuscular Disease最新文献

{"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}

{"title":"Amyotrophic Lateral Sclerosis Associated With Severe Sensory Neuronopathy: Case Series.","authors":"Miguel Oliveira Santos, Susana Pinto, Fernando Silveira, Marta Gromicho, Inês Alves, José Castro, Isabel Castro, Mamede de Carvalho","doi":"10.1097/CND.0000000000000520","DOIUrl":"10.1097/CND.0000000000000520","url":null,"abstract":"<p><strong>Abstract: </strong>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system. However, an association with sensory neuronopathy has been scarcely described. We described 3 unrelated patients (2 males) with sporadic spinal-onset ALS and sensory neuronopathy. Mean onset age was 63.7 years and mean Revised Amyotrophic Lateral Sclerosis Functional Rating Scale at diagnosis was 42. Sensory disturbances emerged before or overlap with motor symptoms in the same onset region and followed the same pattern of lower motor neuron involvement over disease progression. Two patients have also bilateral trigeminal sensory fibers affection. None had cognitive abnormalities. Genetic testing for the most common ALS-associated genes was unrevealing. Mean disease duration and ALS functional rating scale-revised at last visit was 47 months and 27, respectively. One patient is still alive, dependent on nocturnal noninvasive ventilation. Motor neuron disease is now considered a multisystem neurodegenerative disorder, and sensory neuronopathy, although very rare, should not be neglected as a possible part of the disease spectrum.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 3","pages":"133-139"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504087","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":"Safety of Onasemnogene Abeparvovec Administration to Type 1 SMA Patients Who Have Received Risdiplam.","authors":"Sivakami Chelladurai, Sarah D'Urso, Mark Atherton, Min Tsui Ong","doi":"10.1097/CND.0000000000000521","DOIUrl":"10.1097/CND.0000000000000521","url":null,"abstract":"<p><strong>Abstract: </strong>Three therapies are now available for the treatment of type 1 spinal muscular atrophy: onasemnogene abeparvovec (OA), nusinersen, and risdiplam. We present a retrospective, single-center case series detailing our center's experience with six patients diagnosed with type 1 spinal muscular atrophy who switched from risdiplam to OA. Risdiplam was discontinued the day before the OA infusion, and we evaluate the safety aspects of this switch. All patients continued risdiplam until the day before administration of OA, with a wash out period of between 24 and 33 hours prior. All patients have had follow-up for at least 12 weeks, while 3 patients who lived locally received ongoing follow-up ranging from 14 to 27 months after OA infusion. All patients remained stable or improved in their motor scores and need for ventilatory support and feeding support requirement. Adverse events reported after OA switch included tachycardia, fever, nausea, vomiting, raised transaminases, and mild neutropenia. All adverse events in these children were either known adverse events of OA or were not considered secondary to OA or risdiplam treatment. No unexpected adverse event was demonstrated post-OA in patients stopping risdiplam a day before OA infusion. Data presented here suggest that stopping risdiplam a day before OA treatment did not seem to be associated with increased risk.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 3","pages":"140-147"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504694","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 Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature.","authors":"Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider, Angela Abicht, Stefanie Gehling, Thomas Kendzierski, Gisela Stoltenburg-Didinger, Dietrich Stoevesandt, Torsten Kraya, Stephan Zierz, Steffen Naegel","doi":"10.1097/CND.0000000000000469","DOIUrl":"10.1097/CND.0000000000000469","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic variants in the nonmuscle myosin, MYH14, have been associated with several pathologic conditions including a complex phenotype with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Since its first description in a large Korean kindred, this rare neuromuscular disorder has further been characterized in 1 American and 1 Canadian pedigree.</p><p><strong>Case presentation: </strong>Here, we describe a German patient with atypical MYH14-related neuromuscular disorder. The clinical phenotype included signs of a distal myopathy with early respiratory involvement and a prominent hoarseness and peripheral neuropathy. In contrast to previous reports, no relevant deafness was identified. Muscle biopsy indicated a vacuolated myopathy with excessive autophagy, whereas histology of the sural nerve showed signs of a mixed axonal-demyelinating neuropathy. Next-generation sequencing revealed a loss-of-function variant not identified so far in the MYH14 gene (c.4510del, p.[Arg1504Glyfs*10]). Because of rapid disease progression with respiratory failure, the patient died at the age of 52.</p><p><strong>Conclusions: </strong>We present a novel MYH14 variant resulting in a severe and rapidly progressive MYH14-associated phenotype with predominantly distal myopathy, early respiratory failure, dysphagia, hoarseness, and peripheral neuropathy, without hearing loss. This case expands the clinical spectrum of MYH14-related neuromuscular disorders by providing a new clinical phenotype and disease course and histopathologic features.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"26 2","pages":"55-62"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733265","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}