Muscle & Nerve最新文献

{"title":"Management Approaches to Spastic Gait Disorders.","authors":"Sheng Li, Tulsi Pandat, Bradley Chi, Daniel Moon, Manuel Mas","doi":"10.1002/mus.28402","DOIUrl":"https://doi.org/10.1002/mus.28402","url":null,"abstract":"<p><p>Spastic gait presents clinically as the net mechanical consequence of neurological impairments of spasticity, weakness, and abnormal synergies and their interactions with the ground reaction force in patients with upper motor neuron syndromes and with some neuromuscular diseases. It is critical to differentiate whether the primary problem is weakness or spasticity, thus better understanding different phenotypes of spastic gait disorders. Pelvic girdle abnormality plays a pivotal role in determining the clinical presentation of gait disorders, since it determines the body vector and compensatory kinetic chain reactions in the knee and ankle joints. Knee joint abnormality can be a mechanical compensation for hip and/or ankle and foot abnormality. Diagnostic nerve blocks and instrumented gait analysis may be needed for diagnosing the underlying problems and developing an individualized plan of care. A wide spectrum of treatment options has been used to manage spastic gait disorders. Some are in early and investigational stages, such as neuromodulation modalities, while others are well-developed, such as therapeutic exercise, ankle-foot orthoses, botulinum toxin treatment, and surgical interventions. Physicians and other healthcare providers who manage spastic gait disorders should be familiar with these treatment options and should employ appropriate interventions concurrently rather than serially. The most effective treatments can be selected based on careful evaluation, inputs from patients, family, and therapists, along with appropriate goal setting. Treatment plans need to be re-evaluated for effectiveness, relevance, and in concordance with disease progress. This is particularly important for patients with progressive neuromuscular diseases such as amyotrophic lateral sclerosis.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Details Matter: The Difference Between NIV and NVS.","authors":"Kelli Gaul-Muller, John R Bach","doi":"10.1002/mus.28400","DOIUrl":"https://doi.org/10.1002/mus.28400","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurofilament Light Chain Levels, Skeletal Muscle Loss, and Nutritional Decline: Key Prognostic Factors in Amyotrophic Lateral Sclerosis.","authors":"Aida Zulueta, Rachele Piras, Domenico Azzolino, Paola Mariani, Riccardo Sideri, Camilla Garrè, Giuliana Federico, Tiziano Lucchi, Paolo Magni, Eugenio Agostino Parati, Christian Lunetta","doi":"10.1002/mus.28407","DOIUrl":"https://doi.org/10.1002/mus.28407","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Hypermetabolism and weight loss are established negative prognostic factors in amyotrophic lateral sclerosis (ALS). However, the role of individualized body composition parameters in predicting ALS progression has been underexplored. This study aimed to investigate the correlation between nutritional parameters, neurofilament light chain (NfL) levels, and disease progression in ALS patients.</p><p><strong>Methods: </strong>The Global Leadership Initiative on Malnutrition criteria were used to define malnutrition in this study. Nutritional status was assessed using body mass index and bioelectrical impedance analysis. The rate of disease progression was defined by the change in the Revised ALS Functional Rating Scale score (ΔFRS). NfL was quantified using single molecule array technology. Spearman's analyses were used to assess correlations.</p><p><strong>Results: </strong>Sixty of 110 ALS patients were classified as malnourished. There was a strong positive correlation between NfL and ΔFRS (r = 0.71), and a moderate negative correlation with disease duration (r = -0.55). The correlations between NfL and body composition parameters were statistically significant, although weak. NfL levels were significantly higher in fast progressors (p < 0.0001 compared to slow progressors) and in malnourished patients (p = 0.0001). Of the 34 fast progressor patients, 28 (82%) exhibited some degree of malnutrition.</p><p><strong>Discussion: </strong>Our findings indicate that poor nutritional status, particularly reduced skeletal muscle mass-both independently and in combination with fat mass loss-is associated with elevated NfL levels and faster ALS progression. NfL, combined with nutritional parameters, could serve as a valuable biomarker for disease severity. Further research is warranted to clarify the role of skeletal muscle abnormalities in ALS progression.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leucine Supplementation Counteracts the Atrophic Effects of HDAC4 in Rat Skeletal Muscle Submitted to Hindlimb Immobilization.","authors":"Paula K N Alves, André Cruz, William J Silva, Afonso M Melazzo, Siegfried Labeit, Volker Adams, Anselmo S Moriscot","doi":"10.1002/mus.28411","DOIUrl":"https://doi.org/10.1002/mus.28411","url":null,"abstract":"<p><strong>Introduction/aims: </strong>We previously demonstrated that leucine supplementation significantly reduces histone deacetylase 4 (HDAC4) expression induced by hindlimb immobilization, thereby attenuating the increase in HDAC4 protein levels and nuclear accumulation. In this study, we investigated the impact of supraphysiological HDAC4 levels on skeletal muscle and the inhibitory potential of leucine in this scenario.</p><p><strong>Methods: </strong>A total of 64 male Wistar rats were used in this study and subjected to electroporation of the soleus muscle with or without a plasmid overexpressing HDAC4 mRNA, followed by hindlimb immobilization and leucine supplementation (1.35 g/kg) for 7 days.</p><p><strong>Results: </strong>Our findings revealed that HDAC4 overexpression alone led to soleus atrophy, resulting in a 23% decrease in mass, a 31% reduction in whole muscle cross-sectional area (CSA), and a 17% decrease in fiber CSA. These reductions were further exacerbated by hindlimb immobilization, with decreases of 50%, 46%, and 34%, respectively. Moreover, leucine supplementation protected against soleus atrophy and preserved soleus fiber CSA by 17%. This protective effect was accompanied by a 57% reduction in HDAC4-positive nuclear localization in immobilized rats overexpressing HDAC4.</p><p><strong>Discussion: </strong>Our results indicate that HDAC4 forced expression can alone induce skeletal muscle atrophy. In addition, our results indicate that leucine is dominant in blocking HDAC4 signaling and highlight the use of this amino acid as a therapeutic tool in conditions involving skeletal muscle atrophy.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of Primary Mitochondrial Diseases.","authors":"Salman Bhai, Michio Hirano","doi":"10.1002/mus.28387","DOIUrl":"https://doi.org/10.1002/mus.28387","url":null,"abstract":"<p><p>Primary mitochondrial diseases are clinically heterogeneous and present diagnostic challenges due to the highly variable genotype-phenotype correlation. Clinical symptoms can range from non-specific fatigue, exercise intolerance, and weakness to syndromic phenotypes. Though multiple testing modalities exist to identify mitochondrial diseases, most of these tests are nonspecific, or results are associated with other diseases. Molecular testing can provide an efficient path toward diagnosis, as molecular detection techniques have improved and become less costly. A \"genetics first\" approach can reduce diagnostic delay and improve management, where the diagnostic pathway can be an invasive or noninvasive combination of targeted or comprehensive molecular testing. Prior to ordering these tests, clinicians must consider the ambiguities and nuances of various testing modalities during the work-up for mitochondrial diseases. Therefore, due to the diagnostic challenges associated with primary mitochondrial diseases, diagnosis should be made in the context of clinical and molecular data, potentially supplemented with histochemical and biochemical evidence. Confirmation of a diagnosis leads to improvements in the management of the disease, decreases unnecessary testing, informs reproductive planning, and improves research pipelines.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strapped for Strength: A Comparison Study of Dynamometry Techniques to Evaluate Knee Extensor Strength in Inclusion Body Myositis.","authors":"Katie Schütze, Ian Cooper, Brook Galna, Kelly Beer, Timothy J Fairchild, Madeline Schopp, Anna Brusch, Merrilee Needham","doi":"10.1002/mus.28406","DOIUrl":"https://doi.org/10.1002/mus.28406","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Accurate measurement of knee-extensor strength in people with inclusion body myositis (IBM) is vital to track disease progression and provide a standardized outcome for clinical trials. Isokinetic dynamometers are the current gold standard tool for measuring knee-extensor strength. A less costly, more portable tool would have more widespread clinical and research applications. Current practice is to use handheld dynamometry, but there are concerns around the accuracy of this method as it relies on precise operator technique. This study investigates whether stabilization of the handheld dynamometer with a strap (SSHD) improves agreement with the isokinetic dynamometer (IKD) for measurement of knee-extensor strength in IBM participants compared to operator-stabilized handheld dynamometry (OSHD).</p><p><strong>Methods: </strong>Fifteen IBM participants had bilateral knee-extensor force measured using three methods of dynamometry on the same day: the isokinetic dynamometer, operator-stabilized handheld dynamometry, and strap-stabilized handheld dynamometry. A crossover design was used to account for fatigue bias.</p><p><strong>Results: </strong>Intraclass correlations (ICC) indicated poor absolute agreement of the IKD with OSHD (Strong leg = 0.240, Weak leg = 0.328), which was better for the SSHD method. Using the SSHD reduced the bias (i.e., there was less underestimation of force) between SSHD and the IKD compared to OSHD and the IKD (p < 0.05), indicating that strap-stabilized handheld dynamometry improved agreement and intraclass correlations with the IKD compared with operator-stabilized dynamometry.</p><p><strong>Discussion: </strong>Strap-stabilized handheld dynamometry of knee extensor strength is feasible in IBM patients and may correlate better with isokinetic dynamometry than operator-stabilized handheld dynamometry, but larger studies are needed to confirm this finding.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Quantitative Study of Factors Influencing Myasthenia Gravis Telehealth Examination Score.","authors":"Marc Garbey, Quentin Lesport, Helen Girma, Gülşen Öztosun, Henry J Kaminski","doi":"10.1002/mus.28394","DOIUrl":"https://doi.org/10.1002/mus.28394","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The adoption of telemedicine is generally considered as advantageous for patients and physicians, but there is limited rigorous assessment of examination strengths and limitations. We set out to perform a quantitative assessment of the limitations of a standardized examination of subjects with myasthenia gravis (MG) during video-taped telemedicine sessions.</p><p><strong>Methods: </strong>We utilized a video bank containing recordings from 51 MG patients who completed two telemedicine-based examinations with neuromuscular experts; each recording included the MG core examination (MG-CE) and the MG activities of daily living (MG-ADL). We then applied artificial intelligence (AI) algorithms from computer vision and speech analysis to natural language processing to generate and assess the reproducibility and inter-rater reliability of the MG-CE and MG-ADL.</p><p><strong>Results: </strong>We successfully developed a technology to assess video examinations. While overall MG-CE scores were consistent across examiners, individual metrics showed significant variability, with up to a 25% variation in scoring within the MG-CE's range. Additionally, there was wide variability in adherence to MG-ADL instructions. These variations were attributed to differences in examiner instructions, video recording limitations, and patient disease severity.</p><p><strong>Discussion: </strong>We were able to develop a system of digital analysis of neuromuscular examinations in order to assess variability in individual scoring measures of the MG-ADL and MG-CE. Our approach enabled post hoc quantitative analysis of neuromuscular examinations. Further refinement of this technology could enhance examiner training and reduce variability in clinical trial outcome measures.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy in the Era of Disease-Modifying Therapies for Spinal Muscular Atrophy: Considerations From a Case Report.","authors":"Gabriele Vadi, Sara Loprieno, Francesca Torri, Roberto Chiappini, Lorenzo Fontanelli, Giorgia Coratti, Maria Carmela Pera, Marika Pane, Eugenio Mercuri, Gabriele Siciliano, Giulia Ricci","doi":"10.1002/mus.28344","DOIUrl":"10.1002/mus.28344","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"685-687"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Orbicularis Oculi Stimulated Jitter Analysis in Children With Autoimmune Myasthenia Gravis.","authors":"Vishva Natarajan, Sumit Verma","doi":"10.1002/mus.28363","DOIUrl":"10.1002/mus.28363","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Stimulated jitter analysis (stim-JA) involves analyzing the variation in time intervals between stimulations and action potentials, expressed as the mean consecutive difference (MCD). The MCD upper limits are derived from adult populations and warrant a re-evaluation in children to accurately diagnose neuromuscular junction (NMJ) defects.</p><p><strong>Methods: </strong>A retrospective chart review was conducted which analyzed orbicularis oculi stim-JA studies performed on children between January 2014 and December 2021. The clinical profile, acetylcholine receptor (AChR), and muscle-specific kinase (MuSK) antibody status as well as stim-JA study results were retrieved. Bootstrapping was applied to the stim-JA studies to derive de novo MCD upper limits.</p><p><strong>Results: </strong>Twenty-seven stim-JA studies were performed on patients aged 3-19 years with either definite myasthenia gravis presentations and NMJ defects (n = 19, 17 AChR+, 2 MuSK+) or those with normal neurological examinations who were seronegative (n = 8). Four hundred ninety-nine apparent single fiber action potentials (ASFAPs) were analyzed with the individual and mean MCD significantly higher in children with autoimmune myasthenia (p < 0.05). Bootstrapping analysis revealed that MCD upper limits of 39 μs for individual MCD and 24 μs for mean MCD significantly improved specificity (p < 0.05) while maintaining sensitivity of the test in distinguishing definite MG NMJ defect from normal NMJ function.</p><p><strong>Discussion: </strong>Stim-JA using revised upper limits may help clinicians avoid the over-diagnosis of NMJ disorders in children. Stim-JA is a safe and well-tolerated method to screen for definite MG in children over 2 years.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"593-599"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Electrophysiological Characteristics of 23 French Patients With Neurolymphomatosis.","authors":"Dylan Asmani, Jean-Baptiste Chanson, Céline Tard, Juliette Svahn, Antoine Pegat, Armelle Magot, Yann Péréon, Jean-Philippe Camdessanché, Samuel Naudin, Olivier Colin, Guillaume Taieb, Idrissa Coulibaly, Laurent Magy, Simon Frachet","doi":"10.1002/mus.28343","DOIUrl":"10.1002/mus.28343","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Neurolymphomatosis is a hematological condition defined by the direct infiltration of malignant lymphomatous cells into the peripheral nervous system. Since nerve conduction studies may disclose demyelinating features, clinicians may misdiagnose neurolymphomatosis as chronic inflammatory demyelinating polyneuropathy (CIDP). This study aimed to determine whether patients with neurolymphomatosis met the 2021 revised criteria for CIDP.</p><p><strong>Methods: </strong>We retrospectively analyzed 23 patients with primary or secondary neurolymphomatosis from nine French hospitals. We analyzed whether patients with a diagnosis of neurolymphomatosis met the 2010 and 2021 CIDP criteria.</p><p><strong>Results: </strong>152 motor nerves were analyzed, and conduction blocks were found in 13.8% of them. Eight patients (34.7%) demonstrated at least one conduction block. Other demyelinating parameters fulfilling the 2021 CIDP criteria were rare, including reduced conduction velocities (1.7%), prolonged distal motor latencies (3%), absent F-waves (12.4%), and prolonged F-wave latencies (7.7%). Five patients met the 2010 CIDP criteria, whereas only one met the 2021 CIDP criteria.</p><p><strong>Discussion: </strong>Demyelinating features are rare in neurolymphomatosis, and a conduction block is the most frequent abnormality. Consequently, only one patient met the 2021 criteria for CIDP diagnosis. This is likely attributable to the inclusion of sensory criteria. Furthermore, the new criteria emphasize the importance of identifying red flags, such as pain or monoclonal gammopathy, which could suggest an alternative diagnosis to CIDP. Clinicians should consider neurolymphomatosis in patients who present with red flags or atypical CIDP.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"535-542"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}