Journal of Clinical Neuromuscular Disease最新文献

{"title":"46th ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, TexasThursday-Friday, February 22-23, 2024: Meeting Convener: Susan T. Iannaccone, MD, FAAN.","authors":"","doi":"10.1097/CND.0000000000000482","DOIUrl":"https://doi.org/10.1097/CND.0000000000000482","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1S","pages":"S1-S19"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933407","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":"Systematic Review of the Clinical Characteristics and Management of Isaac Syndrome.","authors":"Mustafa Al-Chalabi, Prajwal Hegde, Sara R Moore, Yasmeen Abouainain, Myles Keener, Hira Parvez, Jeremy Eid, Sidra Saleem, Ajaz Sheikh","doi":"10.1097/CND.0000000000000460","DOIUrl":"10.1097/CND.0000000000000460","url":null,"abstract":"<p><strong>Objectives: </strong>Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle twitching, stiffness, hypertrophy, and dysautonomic characteristics, such as hyperhidrosis, are common manifestations. The syndrome can be autoimmune or paraneoplastic, with thymoma being a common cause of paraneoplastic IS. Furthermore, this condition could be handed down from one generation to another. However, there is limited information regarding outcomes, relapses, associated syndromes, associated malignancies (other than thymoma), and treatment options. Despite its rarity, there remains a need for effective management strategies for patients with IS. To address this gap, we conducted a systematic review to summarize the most common and effective treatments of IS in immunomodulatory agents and symptomatic medications, as well as to describe outcomes, relapses, and associated malignancies. Altogether, this review serves to guide clinical practice recommendations for IS and highlight areas for further research.</p><p><strong>Methods: </strong>We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol to conduct a systematic review of cases reposted through the PubMed and Google Scholar databases. The terms \"Isaac Syndrome\" and \"Acquired Neuromyotonia\" were used. The Joanna Briggs Institute's critical appraisal tool was used to evaluate the quality of the included studies.</p><p><strong>Results: </strong>We identified 61 case reports and 4 case series, comprising a total of 70 patients with IS (mean age at onset: 42.5 ± 18 years, and 69% were males). Fourteen cases reported relapses. Thymoma was the most common malignancy associated with IS, followed by lymphoma. Among various serum antibodies, voltage-gated potassium channel-complex antibodies were the most reported antibodies elevated in IS (reported in 38 patients and elevated in 21 patients [55.2%]), followed by acetylcholine ganglionic receptor antibodies, which were reported in 30% of patients (n = 21) and were elevated in 5 cases. The most common electromyography findings were myokymic discharges (n = 22), followed by fasciculations (n = 21) and neuromyotonia (n = 19). For treatment, combining anticonvulsants such as carbamazepine with immunotherapy therapy showed the best results in controlling the symptoms. Among immunotherapy therapies, the combination of plasma exchange plus intravenous high-dose steroids achieved the best results in the acute treatment of IS ([n = 6], with improvement noted in 83.3% [n = 5] of cases). Among the symptomatic treatments with anticonvulsants, carbamazepine was the most efficacious anticonvulsant in treatment of IS, with an average effective dosing of 480 mg/day (carbamazepine was used in 32.3% of acute treatment strategies [n = 23], with improvement noted in 73.9% [n = 17] of cases).</p><p><strong>Conclusions: </strong>IS a rare neu","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 2","pages":"94-106"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156920","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":"Plasma Exchange in Patients With Myositis due to Immune Checkpoint Inhibitor Therapy.","authors":"Nakul Katyal, Tamiko R Katsumoto, Kavitha J Ramachandran, Muharrem Yunce, Srikanth Muppidi","doi":"10.1097/CND.0000000000000457","DOIUrl":"10.1097/CND.0000000000000457","url":null,"abstract":"<p><strong>Abstract: </strong>Immune checkpoint inhibitors used to treat malignancies may lead to various immune-related adverse events (irAEs) including conditions such as myositis and myasthenia gravis (MG). Here, we describe 2 cases of myositis treated effectively with therapeutic plasma exchange (PLEX). A 64-year-old man with thymic cancer developed leg weakness and dyspnea 1 month after the second dose of nivolumab with moderate weakness in proximal and distal muscles, with elevated creatine kinase levels. Another 77-year-old man with Stage IIIB squamous cell carcinoma of the lung developed progressive proximal muscle weakness and became nonambulatory after cycle 2 of durvalumab with persistently high creatine kinase levels despite prednisone treatment. Electrophysiology revealed irritative myopathy without evidence of neuromuscular junction dysfunction and MG antibody testing was nonrevealing. With PLEX, both patients noticed rapid improvement in strength. PLEX in conjunction with other immunosuppressive agents can result in rapid improvement in irAE-myositis even in patients without associated MG.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 2","pages":"89-93"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156917","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":"Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.","authors":"Antoinette Cheung, Ivana F Audhya, Shelagh M Szabo, Michael Friesen, Conrad C Weihl, Katherine L Gooch","doi":"10.1097/CND.0000000000000461","DOIUrl":"10.1097/CND.0000000000000461","url":null,"abstract":"<p><strong>Objectives: </strong>As the clinical course of autosomal recessive limb-girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3-6, LGMDR9, LGMDR12) and progression to cardiac and respiratory involvement among those with and without LOA.</p><p><strong>Methods: </strong>Systematic literature review.</p><p><strong>Results: </strong>From 2929 abstracts screened, 418 patients were identified with ambulatory status data (LOA: 265 [63.4%]). Cardiac and/or respiratory function was reported for 142 patients (34.0%; all with LOA). Among these, respiratory involvement was most frequent in LGMDR3-6 (74.1%; mean [SD] age 23.9 [11.0] years) and cardiac in LGMDR9 (73.3%; mean [SD] age 23.7 [17.7] years). Involvement was less common in patients without LOA except in LGMDR9 (71.4% respiratory and 52.4% cardiac).</p><p><strong>Conclusions: </strong>This study described the co-occurrence of LOA, cardiac, and respiratory involvement in LGMDR and provides greater understanding of the clinical progression of LGMDR.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 2","pages":"65-80"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156916","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":"SARS-CoV-2 Vaccination can Only Be Held Responsible for Small Fiber Neuropathy if all Differential Diagnoses Are Excluded.","authors":"Josef Finsterer","doi":"10.1097/CND.0000000000000447","DOIUrl":"10.1097/CND.0000000000000447","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 2","pages":"63-64"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156919","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":"Pregnancy in Seronegative Myasthenia Gravis: A Single-Center Case Series.","authors":"Yohei Harada, Margaret Bettin, Vern C Juel, Janice M Massey, Donald B Sanders","doi":"10.1097/CND.0000000000000458","DOIUrl":"10.1097/CND.0000000000000458","url":null,"abstract":"<p><strong>Introduction: </strong>The course of double-seronegative myasthenia gravis (DSNMG) during and after pregnancy has not been well described.</p><p><strong>Objective: </strong>To assess the course of DSNMG during pregnancy and within 6 months postpartum.</p><p><strong>Methods: </strong>A retrospective cohort study of women with DSNMG seen in the Duke Myasthenia gravis (MG) Clinic after 2003.</p><p><strong>Results: </strong>Review of the Duke MG Clinic Registry and electronic medical record identified 8 patients who became pregnant after MG onset; the mean age at disease onset was 17.6 (SD = 10.0) years. Increased MG symptoms were observed in the first and third trimester and, most commonly, postpartum in 6 of 18 pregnancies. Except for 1 infant who developed respiratory distress that required neonatal intensive care admission, all the newborns were healthy at birth.</p><p><strong>Conclusions: </strong>As in seropositive MG, increased MG symptoms during pregnancy and within 6 months postpartum is also seen in women with DSNMG.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 2","pages":"85-88"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156918","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":"Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.","authors":"Dipti Baskar, Seena Vengalil, Saraswati Nashi, Deepak Menon, Nandeesh Bevinahalli N, Aneesha Thomas, Mainak Bardhan, Sai Bhargava Sanka, Nisha Manjunath, Atchayaram Nalini","doi":"10.1097/CND.0000000000000453","DOIUrl":"10.1097/CND.0000000000000453","url":null,"abstract":"<p><strong>Abstract: </strong>Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns. We report a novel phenotype of Tangier disease with predominant anterior horn cell involvement. A 16-year-old adolescent girl born to consanguineous parents had a 1-year history of hip girdle weakness with waddling gait and progressive atrophy of the right leg. She had orange tonsils, prominent lingual tonsils, soft skin, distal joint laxity, diffuse hypotonia with asymmetric wasting of legs, proximodistal moderate weakness in lower limbs, and tendon reflexes were hypoactive. The creatine kinase level was 70 U/L. Serum showed an abnormally low level of high- and low-density lipoprotein. Whole-exome sequencing showed a novel likely pathogenic splice site homozygous mutation c.2542+1G > A in the ABCA1 gene at intron 17. Hence, a high degree of suspicion and search for peripheral clinical markers is needed in patients with unusual anterior horn cell syndromes.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"42-45"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10122154","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":"Plasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions.","authors":"Adeel S Zubair, Melissa Rethana, Anthony Ma, Lindsay S McAlpine, Ahmad Abulaban, Bailey Sheldon Munro, Huned S Patwa, Richard J Nowak, Bhaskar Roy","doi":"10.1097/CND.0000000000000439","DOIUrl":"10.1097/CND.0000000000000439","url":null,"abstract":"<p><strong>Objectives: </strong>Plasmapheresis (PLEX) and intravenous immunoglobulin (IVIg) are commonly used to treat autoimmune neuromuscular disorders, including myasthenia gravis, acute inflammatory demyelinating polyradiculoneuropathy, chronic inflammatory demyelinating polyradiculoneuropathy, and other autoimmune neurological disorders. The side effect profiles of these therapies vary, and concern has been raised regarding the safety of PLEX in the elderly population. In this study, we have examined the pattern of PLEX and IVIg use for autoimmune neurological disorders at a single facility and in a national database, focusing on the complications in elderly patients.</p><p><strong>Methods: </strong>We performed a retrospective chart review of adult patients at our institution receiving PLEX or IVIg for any autoimmune neuromuscular or neuro-immunological disease. Next, we analyzed the National Inpatient Sample database to confirm the trend in IVIg and PLEX use from 2012 to 2018 for a set of neuromuscular and neuro-immunological primary diagnoses.</p><p><strong>Results: </strong>IVIg was overall favored over PLEX. The adverse effects were similar among elderly patients (age ≥65 years) compared with younger patients (<65 years) in our institution, even after adequate matching of patients based on age, sex, and medical history. We examined the National Inpatient Sample dataset and noted increasingly higher frequency of IVIg use, consistent with the findings from our institution or facility.</p><p><strong>Conclusions: </strong>Both PLEX and IVIg are safe therapeutic choices in adult patients with autoimmune neuromuscular disorders and other neuro-immunological diseases and can be safely administered in the appropriate clinical setting.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"11-17"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10421215","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":"Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases.","authors":"Juan Ignacio Castiglione, José Manuel Crespo, Mariana Bendersky, Facundo Oscar Silveira, Lucila Lecchini, María Belén Luis, Francisco Caiza Zambrano, Norberto Cotti, Conrado J Simison, Florencia Aguirre, María Agustina Piedrabuena, Ricardo Nicolás Alonso, Carolina Laura Azcona, Pablo Sebastian Sosa, Evangelina Maldonado, Francisco Varela, Mariela Bettini, Roberto D Rey, Luciana León Cejas, Marcelo Rugiero, Ricardo Reisin, Fabio Barroso","doi":"10.1097/CND.0000000000000437","DOIUrl":"10.1097/CND.0000000000000437","url":null,"abstract":"<p><strong>Abstract: </strong>In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain-Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be established. We investigated the clinical and electromyographic characteristics of patients who developed GBS after COVID-19 vaccination and compare these with findings in patients with GBS, without a history of recent vaccination. We included 91 cases between March 2020 and March 2022, treated at 10 referral hospitals of Buenos Aires, Argentina. Of these, 46 had received vaccination against COVID-19 within the previous month. Although Medical Research Council sum-scores were similar in both groups (median 52 vs. 50; P = 0.4), cranial nerve involvement was significantly more frequent in the postvaccination group (59% vs. 38%; P = 0.02), as was bilateral facial paralysis (57% vs. 24%; P = 0.002). No differences were found in clinical or neurophysiological phenotypes, although 17 subjects presented the variant of bilateral facial palsy with paresthesias (11 vs. 6; P = 0.1); nor were significant differences observed in length of hospital stay or mortality rates. Future vaccine safety monitoring and epidemiology studies are essential to demonstrate any potential causal relationship between these events.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10421214","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":"Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case.","authors":"Fatma Kamoun, Sirine Laroussi, Azza Mellouli, Olfa Jallouli, Sawsan Feki, Samia Ben Sassi, Chahnez Charfi Triki","doi":"10.1097/CND.0000000000000455","DOIUrl":"10.1097/CND.0000000000000455","url":null,"abstract":"<p><strong>Abstract: </strong>We report a 5-year-old boy who presented with progressive weakness in 4 limbs and gait disorders over 7 months. No skin rash was observed on admission. A symmetrical proximodistal weakness was found. The creatine kinase level was normal with a slightly elevated lactate dehydrogenase level. Biopsy specimens showed infiltration of mononuclear cells, few necrotic fibers, and perifascicular atrophy. Screening for myositis-specific antibodies was positive for the antinuclear matrix protein 2 antibody, which is mainly associated with dermatomyositis. Symptoms improved on receiving corticosteroids. Our findings suggest that in cases where inflammatory muscle disease is suspected, antinuclear matrix protein 2 antibody analyses should be considered for precise diagnosis, even with the absence of dermatological symptoms. The case suggests consideration of juvenile dermatomyositis in children with no associated skin manifestations or elevated creatine kinase levels and highlights the importance of screening for myositis-specific antibodies in helping with the diagnosis, given the possible heterogeneity of its clinical presentations.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1","pages":"46-50"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10122153","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}