Muscle & Nerve最新文献_第7页

Predictors for Successful Non-Invasive Ventilation in Patients With Neuralgic Amyotrophy and Phrenic Nerve Involvement. 神经痛性肌萎缩和膈神经受累患者无创通气成功的预测因素。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-24 DOI: 10.1002/mus.70403

A B Hendrikx, R T Sprooten, B A Vosse, S C Steijns, S M van Kuijk, J G Hoeijmakers, F M Franssen

{"title":"Predictors for Successful Non-Invasive Ventilation in Patients With Neuralgic Amyotrophy and Phrenic Nerve Involvement.","authors":"A B Hendrikx, R T Sprooten, B A Vosse, S C Steijns, S M van Kuijk, J G Hoeijmakers, F M Franssen","doi":"10.1002/mus.70403","DOIUrl":"https://doi.org/10.1002/mus.70403","url":null,"abstract":"Introduction/aims: Phrenic nerve involvement in neuralgic amyotrophy (NA) may cause diaphragm paresis and respiratory impairment, for which chronic non-invasive ventilation (NIV) may be beneficial. Data on treatment success and predictors are lacking. This study evaluated NIV treatment success and its predictors in NA patients with diaphragm paresis.Methods: Clinical data of all NA patients initiated on chronic NIV at the Centre of Home Mechanical Ventilation (Maastricht, the Netherlands) between September 2008 and April 2023 were retrospectively analyzed. Successful NIV use was defined as continued NIV or successful step-down due to clinical improvement. Cox proportional-hazards regression analyses were performed to identify predictors of successful outcome.Results: Fifty-four patients (mean age 62.5 ± 10.9 years; 72.2% male) were included. Mean baseline postural decline in forced vital capacity (ΔFVC) was -35.1% ± 19.6%. Median NIV adherence was 6.4 [3.6-8.1] hours/day. Thirty-eight patients (70.4%) continued NIV during a mean follow-up of 4.9 years. Of these, six (11%) were successfully stepped down from NIV following clinical and/or functional improvement. Sixteen patients discontinued NIV because of lack of effect or intolerance. Baseline ΔFVC (sitting to supine) independently predicted successful NIV use (HR 0.947; 95% CI: 0.91-0.99).Discussion: Chronic NIV was successful in most NA patients with diaphragm paresis, supporting its role as a long-term treatment option. Greater postural decline in FVC predicted treatment success, suggesting that postural spirometry may help identify patients most likely to benefit from NIV.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039876","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}

引用次数: 0

The Two-Dimensional Framework of Nerve Injury. 神经损伤的二维框架。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-24 DOI: 10.1002/mus.70409

Shawn P Jorgensen, Sandra L Hearn, Christopher J Lamb, Lawrence R Robinson

{"title":"The Two-Dimensional Framework of Nerve Injury.","authors":"Shawn P Jorgensen, Sandra L Hearn, Christopher J Lamb, Lawrence R Robinson","doi":"10.1002/mus.70409","DOIUrl":"10.1002/mus.70409","url":null,"abstract":"Classifying nerve injury severity is essential for communication, prognosis, and treatment decisions. Traditional classification systems (Seddon, Sunderland) cannot account for the full spectrum of nerve pathology, from familiar phenomena such as local anesthetics to recently discovered autoimmune nodopathies. A two-dimensional framework is proposed that separates two aspects of severity conflated in previous classifications and applies to focal and diffuse nerve injuries. The first dimension, quantitative degree, is the proportion of axons involved; the second, pathological type, is the underlying pathology of the involved axons. Pathological type comprises conduction block (conduction failure in live axons) and axon loss (conduction failure of dead axons). Conduction block has two anatomic origins: axonal block, due to primary axonal dysfunction, and demyelinating block, due to primary myelin dysfunction. Axonal block can be organized into three mechanistic clusters: ionic, displacement, and nodopathic block, with distinct pathophysiology, histology, and recovery times. Both axonal and demyelinating conduction block produce electrodiagnostic features historically attributed to demyelination, although subtle differences can sometimes be identified. Severity and recovery time increase from ionic block to axon loss. A single mechanism can cause multiple pathological types, sometimes simultaneously, with the type determined by injury intensity and duration. The two dimensions integrate into assessment: quantitative degree is estimated clinically, and conduction block or axon loss is determined electrodiagnostically. This framework highlights that conduction block can result from processes at the axon or myelin. This includes autoimmune nodopathies, which are often mistaken for demyelinating disorders, but accurate identification can change treatment and may be lifesaving.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149030575","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}

引用次数: 0

Reference Electrode Position Affects Compound Muscle Action Potential Amplitude in Ulnar Nerve Conduction Studies Recorded From the First Dorsal Interosseous Muscle. 参考电极位置影响从第一背骨间肌记录的尺神经传导研究中复合肌肉动作电位振幅。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-20 DOI: 10.1002/mus.70415

Ross Penninkilampi, Catherine Beadon, Con Yiannikas, Matthew Silsby

{"title":"Reference Electrode Position Affects Compound Muscle Action Potential Amplitude in Ulnar Nerve Conduction Studies Recorded From the First Dorsal Interosseous Muscle.","authors":"Ross Penninkilampi, Catherine Beadon, Con Yiannikas, Matthew Silsby","doi":"10.1002/mus.70415","DOIUrl":"https://doi.org/10.1002/mus.70415","url":null,"abstract":"Introduction/aims: Nerve conduction studies (NCSs) of the ulnar nerve recording from the first dorsal interosseous muscle (FDI) are clinically relevant in assessing ulnar neuropathy and the split-hand index. Reference electrode (E2) position varies across normative datasets, with the base of the thumb favored to avoid an initial positive deflection in the compound muscle action potential (CMAP). While latency effects of E2 position have been described, consequences for CMAP amplitude and area have not been systematically examined in a within-subject comparison. This study aims to evaluate CMAP parameters in paired ulnar motor NCS recordings from FDI with E2 over the base of the index finger or thumb.Methods: This retrospective study analyzed 183 ulnar motor NCS recordings from FDI in 155 patients referred for neurophysiological testing. CMAP amplitude, latency, negative peak duration, and area were recorded with E2 positioned at the base of the thumb and then the index finger. Within-subjects comparison was assessed using paired t-tests, with Bland-Altman analysis to assess agreement.Results: CMAP amplitude was on average 2.8 mV lower with E2 at the thumb than at the index finger (95% CI: -3.1 to -2.4; p < 0.0001), with a corresponding reduction in CMAP area. There was no clinically meaningful effect on latency or peak duration. Bland-Altman analysis showed no proportional bias. In 40% of studies with abnormal CMAP amplitude at the thumb, repositioning E2 to the index finger normalized the amplitude.Discussion: Reference electrode position substantially affects ulnar FDI CMAP amplitude, with implications for ulnar neuropathy diagnosis and split-hand index calculation.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012800","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}

引用次数: 0

Clinical Outcomes and Treatment Efficacy in Juvenile Myasthenia Gravis: A Retrospective Review From a Single Center. 青少年重症肌无力的临床结局和治疗效果：单中心回顾性分析。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-16 DOI: 10.1002/mus.70408

Tanitnun Paprad, Elisa Nigro, Zahra Aleisa, Freddy Paiz, Hernan Gonorazky

{"title":"Clinical Outcomes and Treatment Efficacy in Juvenile Myasthenia Gravis: A Retrospective Review From a Single Center.","authors":"Tanitnun Paprad, Elisa Nigro, Zahra Aleisa, Freddy Paiz, Hernan Gonorazky","doi":"10.1002/mus.70408","DOIUrl":"https://doi.org/10.1002/mus.70408","url":null,"abstract":"Introduction/aims: Early recognition and treatment are critical in juvenile myasthenia gravis (JMG), yet pediatric-specific evidence remains limited. We aimed to describe treatment patterns, remission rates, and predictors in a Canadian cohort.Methods: We conducted a retrospective study of patients under 18 years diagnosed with JMG at The Hospital for Sick Children, Toronto, between 2015 and 2025. Clinical, treatment, and outcome data were collected. Diagnosis was confirmed by antibody positivity or electrophysiology, and outcomes were classified using the Myasthenia Gravis Foundation of America postintervention status (MGFA-PIS). Kaplan-Meier and Cox regression analyses were used to evaluate remission and its predictors.Results: Thirty-six patients were included, 16 with generalized MG (GMG) and 20 with ocular MG (OMG). Mean age at diagnosis was 8.7 years; 50% were female. Acetylcholine receptor-positive, muscle-specific kinase-positive, and seronegative MG accounted for 55.6%, 5.6%, and 38.9% of the cohort, respectively. Repetitive nerve stimulation was abnormal in 82.6% tested. Most patients received pyridostigmine and corticosteroids initially, with additional immunosuppressants in selected cases. Seven received rituximab, and seven underwent thymectomy, with most achieving complete stable remission (CSR). The estimated 3-year remission rate was 36.1%, and 66.7% achieved CSR at last follow-up (median 45.5 months). Older age at onset and early immunosuppression predicted remission, while GMG had a higher rate than OMG (56.2% vs. 20.6%, p = 0.044).Discussion: Earlier immunosuppression was associated with a higher remission rate, whereas treatment tended to be initiated later and remission was less frequent in OMG. These findings support a timely treatment approach in JMG.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148983160","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}

引用次数: 0

Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular Dystrophy. 成年男性杜氏肌营养不良症的社会人口学和临床特征。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-16 DOI: 10.1002/mus.70392

Manju Jayasimha Pula Jayaram, Hollie A Clark, Natalie Street, Yining Yang, Shannon Kilburn, Shiny Thomas, Christina Westfield, Katherine D Mathews, Emma Ciafaloni, Aida Soim

{"title":"Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular Dystrophy.","authors":"Manju Jayasimha Pula Jayaram, Hollie A Clark, Natalie Street, Yining Yang, Shannon Kilburn, Shiny Thomas, Christina Westfield, Katherine D Mathews, Emma Ciafaloni, Aida Soim","doi":"10.1002/mus.70392","DOIUrl":"10.1002/mus.70392","url":null,"abstract":"Introduction/aims: Due to improvements in clinical care, individuals with Duchenne muscular dystrophy (DMD) are living into adulthood, but little has been published about adults with DMD. We describe key characteristics of adults with DMD using US population-based surveillance data.Methods: Muscular Dystrophy Surveillance Tracking and Research network (MD STARnet) data were used to describe sociodemographic and clinical characteristics of living and deceased adult males with DMD, born since January 1, 1982, who were ≥ 18 years old at last healthcare visit, using healthcare visit data through 2016. Frequencies and percentages were used to describe the distribution of characteristics, and ages at key milestones were described using medians and interquartile ranges.Results: As of December 31, 2016, of 173 adult males, 61.8% were living. At their last visit, median age was 22.5 years and 35.3% had completed some college. Over 75% were on noninvasive ventilation, over 70% had cardiomyopathy, and 83.8% were prescribed cardiac medications. Corticosteroids were used by 67.1%, including 8.7% as of last clinic visit/death. Public insurance was more common among deceased (66.7%) than living (52.3%). Cough assist was used by 82.2% of living versus 57.6% of deceased individuals.Discussion: Except for cough assist and insurance type, sociodemographic and clinical characteristics were similar between the living and deceased. Low continuation of corticosteroids into adulthood needs interpretation in the context of the study's timeframe. These results can assist clinicians in anticipating the care needs of adults with DMD.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13679774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148983196","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}

引用次数: 0

Neuropathy Progression in Variant Transthyretin Amyloidosis: Comparison Between TTR Stabilizers and Gene Silencer Therapies. 变异型转甲状腺素淀粉样变性的神经病变进展：TTR稳定剂和基因沉默剂治疗的比较。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-15 DOI: 10.1002/mus.70406

Catarina Falcão de Campos, Isabel de Castro, José Castro, Inês Losada Lopez, Juan Gonzalez Moreno, Isabel Conceição

{"title":"Neuropathy Progression in Variant Transthyretin Amyloidosis: Comparison Between TTR Stabilizers and Gene Silencer Therapies.","authors":"Catarina Falcão de Campos, Isabel de Castro, José Castro, Inês Losada Lopez, Juan Gonzalez Moreno, Isabel Conceição","doi":"10.1002/mus.70406","DOIUrl":"https://doi.org/10.1002/mus.70406","url":null,"abstract":"Introduction/aims: Transthyretin (TTR) stabilizers and gene-silencing therapies are approved for hereditary transthyretin-mediated amyloidosis with polyneuropathy (ATTRv-PN), but data from clinical practice in patients who transition between therapies due to disease progression remains limited. The primary aim of this study is to evaluate the effectiveness of patisiran in ATTRv-PN patients who progressed despite prior treatment with tafamidis 20 mg.Methods: We conducted a retrospective multicenter observational study including patients with ATTRV30M (p.V50M) with polyneuropathy who were initially treated with tafamidis 20 mg and subsequently switched to patisiran due to documented neuropathy progression. Patients had at least 12 months of follow-up under each treatment. Neuropathy progression was assessed using the Neuropathy Impairment Score (NIS), neurophysiological composite scores, nutritional status, serum biomarkers, and patient-reported outcomes.Results: Thirty-two patients (mean age 52 ± 14 years; mean disease onset 43 ± 23.5 years) were included. Median disease duration before treatment initiation was 1.8 ± 1.9 years. The mean duration of tafamidis and patisiran treatment was 4.5 ± 2.8 and 2.5 ± 2.3 years, respectively. The annual increase in NIS was significantly lower during patisiran treatment than during tafamidis (0.7 ± 3.9 vs. 3.9 ± 4.7; p = 0.004). Decline in neurophysiological parameters slowed after switching.Discussion: In this cohort, patisiran attenuated neuropathy progression in patients who had deteriorated despite tafamidis. These findings highlight the importance of ongoing clinical monitoring to guide timely treatment optimization.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977263","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}

引用次数: 0

Corneal Confocal Microscopy in Hereditary Demyelinating Neuropathies: Small Fiber Involvement in Charcot-Marie-Tooth Disease. 遗传性脱髓鞘神经病变的角膜共聚焦显微镜：小纤维累及腓骨肌病。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-14 DOI: 10.1002/mus.70405

Ezgi Keskiner-Ozturk, Semra Akkaya-Turhan, Kayihan Uluc, Hande Alibas, Pinar Kahraman-Koytak

{"title":"Corneal Confocal Microscopy in Hereditary Demyelinating Neuropathies: Small Fiber Involvement in Charcot-Marie-Tooth Disease.","authors":"Ezgi Keskiner-Ozturk, Semra Akkaya-Turhan, Kayihan Uluc, Hande Alibas, Pinar Kahraman-Koytak","doi":"10.1002/mus.70405","DOIUrl":"https://doi.org/10.1002/mus.70405","url":null,"abstract":"Introduction/aims: Small fiber involvement in Charcot-Marie-Tooth disease (CMT) is incompletely characterized. We evaluated corneal small fiber parameters and immune cell density in common CMT subtypes, which are predominantly demyelinating neuropathies, using in vivo corneal confocal microscopy (IVCCM).Methods: Sixteen patients with genetically confirmed hereditary demyelinating neuropathies (PMP22-related CMT1A/HNPP and CMTX1) and 32 healthy controls underwent IVCCM. Corneal nerve fiber density (CNFD), length (CNFL), branch density (CNBD), tortuosity (CNFT), and Langerhans cell density were quantified. Clinical severity was assessed with the Charcot-Marie-Tooth Neuropathy Score (CMTNS). Neuropathic pain was defined as painDETECT ≥ 19 or ongoing treatment.Results: Patients showed reduced CNFD compared with controls (20.8 ± 10.7 vs. 26.1 ± 5.3 fibers/mm2; p = 0.024). Subgroup analysis demonstrated significant reductions in CNFD (p = 0.001), CNFL (p = 0.006), and CNBD (p = 0.040) in PMP22-related neuropathies, whereas CMTX1 patients did not differ from controls. CNFD, CNFL, and CNBD correlated inversely with CMTNS. Patients with neuropathic pain exhibited lower CNFD (10.5 ± 8.8 vs. 25.4 ± 7.9 fibers/mm2, p = 0.009), CNFL (9.8 ± 3.9 vs. 16.2 ± 2.8 mm/mm2, p = 0.002), and CNBD (9.9 ± 11.8 vs. 32.7 ± 19.2 branches/mm2, p = 0.030) than painless patients. Langerhans cell density did not differ between groups.Discussion: PMP22-related neuropathies demonstrate significant corneal small fiber loss without increased Langerhans cell density, suggesting a predominantly structural phenotype without evidence of increased corneal immune activation. IVCCM may serve as a noninvasive biomarker of small fiber involvement and disease severity.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148970063","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}

引用次数: 0

AANEM Consensus-Based Guideline for Grading the Severity of Carpal Tunnel Syndrome. 基于AANEM共识的腕管综合征严重程度分级指南。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-12 DOI: 10.1002/mus.70384

Lawrence R Robinson, Zainab J Al-Lawati, Michael Andary, Michael S Cartwright, Peter Grant, John Kincaid, Jeremy D P Bland

{"title":"AANEM Consensus-Based Guideline for Grading the Severity of Carpal Tunnel Syndrome.","authors":"Lawrence R Robinson, Zainab J Al-Lawati, Michael Andary, Michael S Cartwright, Peter Grant, John Kincaid, Jeremy D P Bland","doi":"10.1002/mus.70384","DOIUrl":"https://doi.org/10.1002/mus.70384","url":null,"abstract":"Electrodiagnostic (EDX) reports for patients with carpal tunnel syndrome (CTS) often include a description of severity, but considerable variability in approach creates confusion for referring physicians, patients, and EDX practitioners. The purpose of this project was to establish a consensus-based recommendation for a single grading system for CTS severity. A literature review, a survey of EDX practitioners, a Delphi consensus methodology (physician and non-physician stakeholders), and expert rankings were used to select a single recommended grading system for CTS severity. Twelve different CTS grading systems have been published. Of 1,253 survey respondents, only 43% of surveyed used solely nerve conduction results to determine severity; often symptoms or a mixture of EDX and clinical features were used. Twenty-seven percent of respondents did not use a particular grading system. The consensus of 18 EDX clinicians, other clinicians, and patients was that seven elements are essential to a grading system: consistency, comprehensibility, validity, objectivity, uniformity, responsiveness, and ordinality. An assessment of the 12 published scales, using these seven essential elements for rating, concluded that the Bland grading system best meets these criteria. It is recommended that the Bland neurophysiologic grading system be used for consistently grading the severity of CTS. This scale is objective, reliable, readily understood, and sensitive to change. It has also been validated with outcomes after surgical release. The American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) believes that widespread, preferably ubiquitous, use of this grading system will ensure consistency of grading across laboratories and will ultimately improve patient care.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955747","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}

引用次数: 0

Guidelines for Genetic Testing of Peripheral Nerve Disorders. 外周神经疾病基因检测指南。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-09 DOI: 10.1002/mus.70394

Mario A Saporta

{"title":"Guidelines for Genetic Testing of Peripheral Nerve Disorders.","authors":"Mario A Saporta","doi":"10.1002/mus.70394","DOIUrl":"10.1002/mus.70394","url":null,"abstract":"Inherited peripheral neuropathies (IPNs) comprise a clinically and genetically heterogeneous group of disorders affecting approximately 1 in 2500 individuals and represent one of the most common inherited neurologic diseases. The rapidly expanding identification of disease-causing genes and the widespread implementation of next-generation sequencing (NGS) have fundamentally transformed the diagnostic evaluation of these disorders. Contemporary molecular testing has substantially increased diagnostic yield, shortened the diagnostic delay, refined disease classification, and strengthened genotype-phenotype correlations. In the United States, NGS-based multigene panels have become the most cost-effective first-line molecular diagnostic approach for most patients with suspected inherited neuropathies, whereas phenotype-directed single-gene testing remains appropriate in selected clinical circumstances and in healthcare systems in which access to comprehensive sequencing is limited. Despite these advances, challenges continue to affect diagnostic accuracy, including interpretation of variants of uncertain significance, detection of copy number variants and repeat expansions, technical limitations associated with highly homologous genomic regions such as SORD, and variability in gene content and analytic performance among commercially available testing platforms. Accurate diagnosis therefore requires integration of clinical phenotype, electrodiagnostic findings, family history, and molecular data. Establishing a precise genetic diagnosis has become increasingly important because it improves prognostic accuracy, guides genetic counseling and cascade testing, identifies patients with treatable hereditary neuropathies such as transthyretin amyloidosis, and facilitates enrollment in gene-specific clinical trials and emerging precision therapies. An evidence-based, phenotype-driven approach that incorporates contemporary molecular technologies is essential to maximize diagnostic efficiency while recognizing the strengths and limitations of currently available genetic testing strategies.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148920492","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}

引用次数: 0

Emergencies in Amyotrophic Lateral Sclerosis. 肌萎缩侧索硬化症的紧急情况。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-09-06 DOI: 10.1002/mus.70398

S Pinar Uysal, Katherine A Dudley, Stacey Sullivan, Kate T Brizzi, Katherine M Burke, Sydney Hall, Kiersten Pease, Joshua N Goldstein, James D Berry, Doreen T Ho

{"title":"Emergencies in Amyotrophic Lateral Sclerosis.","authors":"S Pinar Uysal, Katherine A Dudley, Stacey Sullivan, Kate T Brizzi, Katherine M Burke, Sydney Hall, Kiersten Pease, Joshua N Goldstein, James D Berry, Doreen T Ho","doi":"10.1002/mus.70398","DOIUrl":"https://doi.org/10.1002/mus.70398","url":null,"abstract":"Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS. Thromboembolic events and respiratory failure may present insidiously in ALS, requiring a high index of clinical suspicion, and management strategies differ from those for individuals without ALS. Bulbar impairment in ALS can give rise to aspiration, laryngospasm, and malnutrition leading to emergency department (ED) visits, underscoring the need for early consideration of gastrostomy tube placement. PALS face an increased risk of serious infections, making vigilant monitoring for any acute change essential. Tracheostomy and gastrostomy, although life-sustaining measures in ALS, may require ED care when complications arise. Proactive assessment and management are critical to prevent complications related to constipation, urinary dysfunction, cognitive and behavioral issues. Although serious adverse events from ALS treatments are very rare, potential immune-mediated neurologic complications are a consideration with tofersen use. Importantly, ALS emergencies should be viewed as potential indicators of disease progression, prompting timely serious illness discussions and reassessment of goals of care. Anticipation of potential complications and emergencies, combined with an understanding of appropriate evaluation and evidence-based management, constitute critical components of caring for pALS. Early recognition and proactive management of these emergencies can improve safety, reduce avoidable hospitalizations, and support goal-concordant, patient-centered care.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900822","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}

引用次数: 0