Journal of Clinical Neuromuscular Disease最新文献

{"title":"Acute Pharyngeal-Cervical-Brachial Weakness Associated With Urinary Retention and Anti-GD1a Antibodies: A Case Report.","authors":"Fabio Giuseppe Masuccio, Greta Negro, Carlo Civardi, Claudio Solaro","doi":"10.1097/CND.0000000000000558","DOIUrl":"https://doi.org/10.1097/CND.0000000000000558","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"57-58"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875979","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":"Proteomic and Functional Signatures of Phenoconversion in Presymptomatic Amyotrophic Lateral Sclerosis.","authors":"Steven Lehrer, Peter H Rheinstein","doi":"10.1097/CND.0000000000000567","DOIUrl":"https://doi.org/10.1097/CND.0000000000000567","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) likely has a prolonged presymptomatic phase. Identifying blood biomarkers that predict phenoconversion is critical for early intervention.</p><p><strong>Methods: </strong>We analyzed baseline serum proteomics in 270 UK Biobank participants who later developed ALS. A prespecified 19-protein panel was evaluated in relation to time-to-diagnosis. C9orf72 risk was proxied using rs10757668 genotype.</p><p><strong>Results: </strong>Neurofilament light rose sharply in the 2-3 years preceding diagnosis (r = -0.37, P < 0.001). Muscle-stress markers, including EDA2R and MYL3, increased earlier, up to 4-6 years before onset. Higher EDA2R levels were associated with reduced grip strength at baseline. A combined 19-protein panel plus genotype predicted phenoconversion within 3 years with an area under the receiver operating characteristic curve of 0.77, outperforming neurofilament light alone.</p><p><strong>Conclusions: </strong>ALS exhibits a measurable molecular prodrome detectable in blood years before diagnosis. Integrated proteomic and genetic profiling may support early identification and trial enrichment strategies.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"33-46"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876105","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":"Ultrasound-Guided Perineural Corticosteroid Injection for Bell Palsy in a Patient Recovering From Diabetic Ketoacidosis: An Alternative When Systemic Corticosteroids Are Contraindicated.","authors":"Hilmi Berkan Abacıoğlu, Berkay Yalçınkaya, Ahmet Furkan Çolak, Murat Kara","doi":"10.1097/CND.0000000000000572","DOIUrl":"https://doi.org/10.1097/CND.0000000000000572","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"58-60"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876063","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 Feature and Treatment Outcomes of Necrotizing Autoimmune Myopathy in a Referral Neurological Center in Thailand.","authors":"Sirilux Angsuwattanakul, Thanes Termglinjan, Arada Rojana-Udomsart","doi":"10.1097/CND.0000000000000568","DOIUrl":"https://doi.org/10.1097/CND.0000000000000568","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing autoimmune myopathy (NAM) is classified into 3 subtypes according to antibodies. Data from Southeast Asian populations remain limited.</p><p><strong>Objective: </strong>To describe and compare clinical characteristics and treatment responses among the NAM subtypes.</p><p><strong>Methods: </strong>Retrospective cohort included three subtypes of 29 patients with NAM. Demographics, clinical data, treatment approach, and responses were assessed and compared.</p><p><strong>Results: </strong>There were 20 (68.97%) anti-signal recognition particle (SRP), 8 anti-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) (27.59%), and 1 (3.44%) seronegative patients. Anti-SRP, compared with anti-HMGCR patients, tended to be more severe with cardiac and respiratory involvement. They tended to have residual disabilities at 12 months, whereas most anti-HMGCR patients achieved near-complete functional recovery. Associated cancer was found in an anti-HMGCR-associated patient. Rituximab administration in patients who did not respond to first-line therapy resulted in clinical improvement.</p><p><strong>Conclusions: </strong>Patients with anti-SRP-associated NAM were relatively more severe. Cancer screening should be considered in anti-HMGCR patients. Rituximab was beneficial in individual patients.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"47-52"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876119","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":"Chronic Inflammatory Demyelinating Polyneuropathy: Update on Diagnosis and Treatment.","authors":"Jin Jun Luo, Xiaohong Si","doi":"10.1097/CND.0000000000000570","DOIUrl":"https://doi.org/10.1097/CND.0000000000000570","url":null,"abstract":"<p><strong>Abstract: </strong>Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy characterized by progressive or relapsing weakness and sensory loss because of demyelination of peripheral nerves. CIDP has a higher prevalence in men and older adults. Immunopathogenesis involves both cellular and humoral mechanisms, including autoreactive T cells and macrophage-mediated demyelination. Typical CIDP presents with symmetric sensorimotor deficits, whereas atypical variants such as distal acquired demyelinating symmetric neuropathy, Lewis-Sumner syndrome, and motor- or sensory-predominant forms pose diagnostic challenges. Corticosteroids, intravenous immunoglobulin, and plasma exchange remain first-line treatments, although antibody-mediated subtypes often respond better to B-cell-directed therapy. The newly FDA-approved FcRn antagonist, efgartigimod alfa, provides a targeted option for adults with refractory CIDP. Accurate recognition of atypical and antibody-associated forms is essential for optimizing individualized management and improving outcomes.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"1-25"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876087","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":"Demyelination in Diabetic Distal Symmetric Polyneuropathy: A Retrospective Electrodiagnostic Study.","authors":"Roopa Sharma, Iqra Faiz, Ahmed Sabra, Kazzim Jaffry, Nizaar Souayah, Machteld E Hillen","doi":"10.1097/CND.0000000000000555","DOIUrl":"https://doi.org/10.1097/CND.0000000000000555","url":null,"abstract":"<p><strong>Background: </strong>Features of acquired demyelination have been reported in diabetic distal symmetrical polyneuropathy (DDSP).</p><p><strong>Objectives: </strong>To characterize the natural history of demyelination in diabetic distal symmetric polyneuropathy (DDSP).</p><p><strong>Methods: </strong>We retrospectively reviewed serial motor nerve conduction studies in 71 patients with DDSP with ≥2 electrodiagnostic sessions. Patients were categorized as G1 [no new conduction velocity slowing (CVS)], G2 (new CVS), or G3 (new CVS in the demyelinating range per American Academy of Neurology criteria). Age, body mass index, hemoglobin A1c (HbA1c), and study intervals were compared between groups.</p><p><strong>Results: </strong>The cohort included 30 men and 41 women. The mean age and time between the first and most recent studies were 55.91 ± 10.44 years and 32 ± 31 months, respectively. HbA1c was available in 57 patients (mean 7.87 ± 2.61). At the patient level, 30 of 71 (42.2%) had new CVS in ≥1 nerve; among these, 12 of 30 (40.0%) involved a single nerve, 10 of 30 (33.3%) involved 2 nerves, and 8 of 30 (26.7%) involved 3 or more nerves. Demyelinating-range CVS was present in 5 of 30 (16.6%) of those with CVS, corresponding to 5 of 71 (7.0%) of the entire cohort. When stratified by group (Table 2), mean HbA1c differed significantly between G2 and G3 (8.14 ± 2.48 vs. 10.56 ± 5.25; P < 0.05) (Table 4) and between G1 and G3 (7.48 ± 2.21 vs. 10.56 ± 5.25; P < 0.002) (Table 5), while age, body mass index, and interstudy interval showed no significant differences (Tables 3-5).</p><p><strong>Conclusions: </strong>In a subgroup of patients with DDSP, an evolving compound motor action potential independent motor nerve CVS, interval prolongation of the distal motor latency, and interval prolongation or absence of F waves may occur, consistent with a superimposed acquired demyelination. These changes were more frequently identified in patients with higher mean HbA1c values.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"26-32"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876044","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":"Fatal Myocarditis Relapse in a Patient with Myasthenia Gravis Treated with Efgartigimod Alfa: A Case Report.","authors":"Tal Friedman Korn, Omri Zveik-Lavi, Dana Ekstein, Adi Vaknin-Dembinsky, Ronen Durst, Batla Falah, Marc Gotkine","doi":"10.1097/CND.0000000000000571","DOIUrl":"https://doi.org/10.1097/CND.0000000000000571","url":null,"abstract":"<p><strong>Abstract: </strong>Myasthenia gravis (MG) is an autoimmune neuromuscular disorder primarily caused by autoantibodies against acetylcholine receptors (AChR), leading to muscle weakness. In 2021, efgartigimod was FDA-approved as the first neonatal Fc receptor (FcRn) blocker for generalized MG, reducing pathogenic IgG autoantibodies and improving symptoms. We present a 39-year-old woman with AChR-positive generalized MG and a history of resolved inflammatory myocarditis. Owing to persistent weakness despite intravenous immunoglobulin, she transitioned to efgartigimod. Efgartigimod induced significant neuromuscular improvement, reducing her myasthenia gravis activities of daily living (MG-ADL) score from 9 to 4. However, 3 months later, she developed fatal fulminant heart failure (LVEF 20%-25%) without concurrent skeletal muscle weakness. Despite emergency intervention with veno-arterial extracorporeal membrane oxygenation, the patient died after anoxic brain injury. Although efgartigimod effectively reduces pathogenic IgG, it may not adequately suppress cellular or cytokine-mediated inflammation driving MG-associated myocarditis. Clinicians should exercise caution and maintain cardiac monitoring when prescribing FcRn blockers to patients with a history of myocardial involvement.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"28 1","pages":"53-56"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148876116","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":"Severe Necrotizing Myositis With Anti-HMGCR and Anti-MDA5 Antibodies Without Cutaneous Involvement.","authors":"Jason Becker, Kyle N Kaneko, Kevin Dang, Erik Ortega","doi":"10.1097/CND.0000000000000544","DOIUrl":"https://doi.org/10.1097/CND.0000000000000544","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"172-175"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144991","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":"Medication Usage in Motor Neuron Disease and Spinal Muscular Atrophy: Insights from the Muscular Dystrophy Association Neuromuscular Observational Research Data Hub.","authors":"Daniel Joo, Charalampia Koutsioumpa, Nilay P McLaren, Ali A Habib, Bhaskar Roy","doi":"10.1097/CND.0000000000000566","DOIUrl":"https://doi.org/10.1097/CND.0000000000000566","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"175-176"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148145037","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":"Letter to the Editor: Utility of Smartwatches in Neuromuscular Disease: Current Use and Barriers to Adoption.","authors":"Wayne Zhong, Adeel Zubair","doi":"10.1097/CND.0000000000000561","DOIUrl":"10.1097/CND.0000000000000561","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"27 4","pages":"169-170"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148144981","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}