Muscle & Nerve最新文献_第4页

One-Year Clinical Course of Patients With Amyotrophic Lateral Sclerosis Admitted to a Home Palliative Care Program: An Extension Study. 接受家庭姑息治疗计划的肌萎缩性侧索硬化症患者的一年临床病程：一项扩展研究。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-06 DOI: 10.1002/mus.70429

Sebastiano Mercadante, Antonino Petronaci

{"title":"One-Year Clinical Course of Patients With Amyotrophic Lateral Sclerosis Admitted to a Home Palliative Care Program: An Extension Study.","authors":"Sebastiano Mercadante, Antonino Petronaci","doi":"10.1002/mus.70429","DOIUrl":"https://doi.org/10.1002/mus.70429","url":null,"abstract":"Introduction/aims: Longer term data on ALS patients receiving home palliative care are scarce. We extended follow-up of a 6-month cohort to 12 months to characterize the trajectory of function, symptoms, vital support (noninvasive ventilation [NIV], gastrostomy, and/or tracheostomy), and advance care planning (ACP).Methods: In this prospective, single-center study, 34 consecutive ALS patients in a home palliative care program (SAMOT, Palermo) were assessed at baseline, 2, 4, 6, and 12 months, using Karnofsky, ALS Functional Rating Scale-Revised (ALSFRS-R), Edinburgh Cognitive and Behavioural ALS Screen (ECAS), Edmonton Symptom Assessment Scale (ESAS), dysphagia, vital support, and advanced care planning (ACP).Results: Ten patients (29.4%) died over 12 months (70% at home); 26 completed the 12-month assessment. Karnofsky (34.4-27.7) and ALSFRS-R (27.1-21.7) declined significantly throughout (both p < 0.0005). Total ESAS rose from 15.7 to 23.7 (p < 0.0005); anxiety increased significantly between T4 and T12. NIV use rose from 20.6% to 50.0% (p = 0.014), while tracheostomy remained stable. Documented end-of-life decisions rose to 70.4% at 6 months but plateaued (69.2% at 12 months); no living wills were completed. Cognitive impairment on ECAS was present in about half of patients, unchanged over time. No patient was referred to or admitted to hospice.Discussion: Extending follow-up beyond 6 months shows continuous functional decline and rising symptom burden, and highlights late-onset anxiety and early-plateauing ACP. Despite progressive needs, this home palliative care model appeared to support most patients at home until death over 1 year, within this single-center, non-comparative cohort.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112378","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

Poor Prognostic Factors After Gastrostomy in Patients With Amyotrophic Lateral Sclerosis: A Two-Center Retrospective Cohort Study. 肌萎缩侧索硬化症患者胃造口术后不良预后因素：一项双中心回顾性队列研究。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-08-14 DOI: 10.1002/mus.70378

Tomomi Shijo, Naoki Suzuki, Hitoshi Warita, Kensuke Ikeda, Masaaki Kato, Masashi Aoki

{"title":"Poor Prognostic Factors After Gastrostomy in Patients With Amyotrophic Lateral Sclerosis: A Two-Center Retrospective Cohort Study.","authors":"Tomomi Shijo, Naoki Suzuki, Hitoshi Warita, Kensuke Ikeda, Masaaki Kato, Masashi Aoki","doi":"10.1002/mus.70378","DOIUrl":"10.1002/mus.70378","url":null,"abstract":"Introduction/aims: Percutaneous endoscopic gastrostomy (PEG) is widely used to manage dysphagia in patients with amyotrophic lateral sclerosis (ALS). However, some patients experience rapid clinical deterioration following the procedure. Prognostic factors specific to outcomes following PEG remain insufficiently defined.Methods: This two-center retrospective cohort study included 117 patients with ALS who underwent PEG prior to tracheostomy between April 2011 and June 2023. Cox proportional hazards modeling was used to identify independent prognostic factors following PEG. Explanatory variables included age, sex, onset site, percent of normal forced vital capacity (%FVC), disease duration from onset to PEG, and body mass index. Optimal cutoff values for continuous variables were determined using time-dependent receiver operating characteristic analyses.Results: Among six examined clinical variables, four were independently associated with worse outcomes after PEG placement as follows: male sex, spinal onset, lower %FVC at the time of PEG, and shorter duration from onset to PEG. Cutoff values were determined as %FVC < 63% and disease duration < 12 months. Log-rank analyses confirmed significantly shorter post-PEG survival in patients meeting these criteria.Discussion: Poorer respiratory function and shorter duration from disease onset to PEG were strongly associated with worse prognosis after PEG. Male sex emerged as an independent prognostic factor, suggesting potential biological differences in disease progression after gastrostomy. These findings underscore the importance of comprehensive clinical evaluation when considering PEG in patients with ALS.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1288-1292"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148761240","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

Clinical and Electrodiagnostic Characterization of Pediatric Triple A Syndrome: A Cohort of 17 Patients. 儿童aaa综合征的临床和电诊断特征：一组17例患者。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-07-21 DOI: 10.1002/mus.70355

Osman Kipoğlu, Hayrullah Manyas, Mehmet Burak Mutlu, Celil Yılmaz, Cem Bölük

{"title":"Clinical and Electrodiagnostic Characterization of Pediatric Triple A Syndrome: A Cohort of 17 Patients.","authors":"Osman Kipoğlu, Hayrullah Manyas, Mehmet Burak Mutlu, Celil Yılmaz, Cem Bölük","doi":"10.1002/mus.70355","DOIUrl":"10.1002/mus.70355","url":null,"abstract":"Introduction/aims: Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Neurological involvement is common, but its electrodiagnostic (EDX) patterns are varied. The resulting phenotype, often marked by spasticity, can lead to diagnostic confusion with other motor neuron disorders. We aimed to define the neurological and EDX spectrum in a pediatric cohort and clarify their diagnostic relevance.Methods: This was a cross-sectional study of 17 pediatric patients with genetically confirmed triple A syndrome. All patients underwent neurological examinations by a pediatric neurologist. EDX data, including nerve conduction studies (NCS) and concentric needle electromyography (EMG) from 14 patients, were systematically analyzed for motor and sensory involvement.Results: Neurological examinations revealed upper motor neuron (UMN) signs, including hyperreflexia, extensor plantar responses, lower limb hypertonia, and a spastic gait pattern, including toe walking and early heel rise. Some patients showed peripheral neuropathy signs, including pes cavus and distal muscle atrophy. EDX studies indicated a predominantly distal, axonal motor polyneuropathy with infrequent sensory involvement. Needle EMG demonstrated chronic neurogenic changes in distal muscles; however, active denervation, such as fibrillation potentials and fasciculation potentials, were observed in only one patient.Discussion: The presence of spastic paraparesis and hyperreflexia may clinically resemble hereditary spastic paraplegia, while distal motor involvement may raise consideration of motor neuron disorders. The predominance of chronic neurogenic changes and the relative infrequency of active denervation on needle EMG are key diagnostic features that help differentiate Triple A syndrome from classical motor neuron diseases.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1205-1211"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549845","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

Beyond the Neurological Level of Injury: The Critical Role of Electrodiagnostics in Cervical Spinal Cord Injury. 超越损伤的神经水平：电诊断在颈脊髓损伤中的关键作用。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-08-04 DOI: 10.1002/mus.70373

Adenike A Adewuyi, Matthew D Ramsey, Colin K Franz

引用次数: 0

Traumatic Neuroma of a Bifid Digital Nerve of the Index Finger: Sonographic and Intraoperative Findings of a Rare Variation. 外伤性食指双趾神经瘤：一罕见变异的声像图及术中表现。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-08-02 DOI: 10.1002/mus.70372

Filippo Cotellessa, Andrea Raspanti, Carlo Trompetto, Georg Riegler, Marco Becciolini

引用次数: 0

Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy. 解决脊髓性肌萎缩症在获得治疗方面的全球差异。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-08-03 DOI: 10.1002/mus.70362

Charalampia Koutsioumpa, Basil T Darras, Robert C Griggs, Bhaskar Roy

{"title":"Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.","authors":"Charalampia Koutsioumpa, Basil T Darras, Robert C Griggs, Bhaskar Roy","doi":"10.1002/mus.70362","DOIUrl":"10.1002/mus.70362","url":null,"abstract":"The advent of novel disease-modifying therapeutics for spinal muscular atrophy (SMA) increased life expectancy with better motor function and potentially better quality of life. While the benefits of these therapies are well established, most trials were conducted only in high-income and middle-income countries, and there is a lack of global representation. Furthermore, although these medications are now approved in over 50 countries worldwide, they remain unavailable to many who need them, potentially widening the gap in clinical care. Moreover, with these therapies, the standard SMA phenotype is changing, and the percentage of adult patients in the SMA cohort is increasing rapidly, requiring adjustments and modifications to the traditional therapeutic approach to SMA. It is important to identify potential sources of health inequalities to address them. Clinical opportunities for access include expanding screening availability by employing novel, affordable technologies, improving continuity of care through patient registries, and ensuring transitions of care for long-term monitoring of adult patients with the disease. New technologies also offer the possibility of expanding the scope of telehealth to ensure access and of using artificial intelligence for rapid screening and disease monitoring. Regulatory changes and drug policies to reduce medication costs are also critical. Additional research on SMA population disparities and clinical trials that recruit from diverse populations and across the globe will help bridge the gap. Ensuring equitable healthcare access to disease screening and lifesaving medications is not just a recommendation but a call to action that can promote health for all.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1196-1204"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663896","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

Capturing Financial Burden Concerns in an ALS Multidisciplinary Clinic. 在ALS多学科诊所捕捉经济负担问题。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-07-28 DOI: 10.1002/mus.70364

Nikhita Pathapati, Minh Nguyen, Jaden Ju, Mahita Maddukuri, John Kiehl, Elizabeth Kvale, Aaron P Thrift, Sarah Berth, Astrid Grouls

{"title":"Capturing Financial Burden Concerns in an ALS Multidisciplinary Clinic.","authors":"Nikhita Pathapati, Minh Nguyen, Jaden Ju, Mahita Maddukuri, John Kiehl, Elizabeth Kvale, Aaron P Thrift, Sarah Berth, Astrid Grouls","doi":"10.1002/mus.70364","DOIUrl":"10.1002/mus.70364","url":null,"abstract":"Introduction/aims: Amyotrophic lateral sclerosis (ALS) is associated with substantial financial burden. How financial concerns are documented or addressed in ALS multidisciplinary clinics (MDC) is unclear. We aimed to characterize financial concerns among people living with ALS (pALS) and how they are identified and documented by multidisciplinary clinic staff.Methods: We performed a retrospective electronic medical record (EMR) review for people living with ALS (pALS) attending at least two visits at the MDC, identifying documentation of financial concerns across all MDC notes throughout 2024. Semi-structured interviews with MDC staff explored experiences with financial concern discussions and documentation. Rapid qualitative analysis was used to analyze interview content.Results: Among 67 pALS with at least 2 MDC visits, 45 (67.2%) had ≥ 1 documented financial concerns. Financial concerns were most documented in neurology physician notes and portal messages (both 77.8%) and included insurance denials, medication costs, disability/Medicare navigation, caregiving expenses, and home modifications. Social work and patient portal notes provided greater detail than other staff notes. Staff interviews highlighted insurance and equipment costs as frequent financial concerns. Four qualitative themes emerged: insurance challenges and reliance on non-insurance resources, financial barriers limiting care and quality of life, limited proactive conversations/documentation, and the central role of social work.Discussion: Financial concerns are common among pALS but are inconsistently discussed and documented in the EMR, often arising through asynchronous communication or social work. Integrating financial screening and promoting proactive multidisciplinary documentation may improve identification of financial concerns and support more equitable, person-centered ALS care.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1270-1274"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148605517","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

Exploring the Value of Quantitative Muscle Ultrasound in Neuromuscular Junction Disorders: A Pilot Study. 探索定量肌肉超声在神经肌肉连接疾病中的价值：一项初步研究。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-07-30 DOI: 10.1002/mus.70361

Artor Pogosean, Maarika Liik, Nens van Alfen, Anna Rostedt Punga

{"title":"Exploring the Value of Quantitative Muscle Ultrasound in Neuromuscular Junction Disorders: A Pilot Study.","authors":"Artor Pogosean, Maarika Liik, Nens van Alfen, Anna Rostedt Punga","doi":"10.1002/mus.70361","DOIUrl":"10.1002/mus.70361","url":null,"abstract":"Introduction/aims: Quantitative muscle ultrasound (QMUS) is a validated technique for assessing muscle pathology, yet its role in disorders primarily affecting the neuromuscular junction (NMJ) remains unclear. This pilot study aimed to explore whether QMUS is associated with structural muscle changes in patients with acquired or genetic NMJ disorders.Methods: We conducted a retrospective study of 18 patients with confirmed NMJ disorders who underwent electrodiagnostic testing (EDx), including repetitive nerve stimulation (RNS) and/or stimulated single-fiber electromyography (SFEMG), combined with QMUS. Patients were grouped into congenital myasthenic syndromes (CMS) and acquired autoimmune myasthenia (myasthenia gravis [MG] or Lambert-Eaton myasthenic syndrome [LEMS]). QMUS scores were classified as normal, borderline, or abnormal based on muscle echogenicity z-scores derived from a validated algorithm.Results: Abnormal EDx was present in 13 of 18 (72%) patients. Abnormal decrement (> 10%) was observed in 7/18 patients, and abnormal jitter in the orbicularis oculi muscle was found in 6/8 patients. QMUS demonstrated normal echogenicity in 14/18 (78%) patients, while 4/18 (22%) showed abnormal or borderline echogenicity, including 2/5 (40%) with generalized MG. All patients with borderline or abnormal QMUS findings had concomitant abnormal RNS and/or SFEMG.Discussion: Structural muscle changes, reflected by altered echogenicity, may occur in a subset of patients with NMJ disorders, although QMUS shows limited sensitivity compared with EDx. Future studies using standardized protocols, dynamic assessments, and targeted evaluation of clinically relevant muscles, such as facial and bulbar, are needed to determine whether QMUS may serve as a complementary tool for disease characterization or monitoring.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1281-1287"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148630917","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

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound. 面肩肱骨肌萎缩症的面部肌肉成像：磁共振与超声比较的探索性研究。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-08-05 DOI: 10.1002/mus.70360

Federico Pistoia, Elena Faedo, Marta Macciò, Giovanni Marcenaro, Maria Elena Susi, Mehrnaz Hamedani, Veronica Caramellino, Sara Massucco, Andrea Francesco Maria Vollaro, Paola Mandich, Fabio Gotta, Riccardo Picasso, Federico Zaottini, Marina Grandis, Carlo Martinoli

{"title":"Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound.","authors":"Federico Pistoia, Elena Faedo, Marta Macciò, Giovanni Marcenaro, Maria Elena Susi, Mehrnaz Hamedani, Veronica Caramellino, Sara Massucco, Andrea Francesco Maria Vollaro, Paola Mandich, Fabio Gotta, Riccardo Picasso, Federico Zaottini, Marina Grandis, Carlo Martinoli","doi":"10.1002/mus.70360","DOIUrl":"10.1002/mus.70360","url":null,"abstract":"Aims: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound (US) assessment of facial muscle involvement and correlations with clinical severity.Methods: This single-center prospective study enrolled 12 genetically confirmed FSHD1 patients (mean age 57.8 years). Clinical evaluation included the FSHD score, Comprehensive Clinical Evaluation Form (CCEF), and Facial Weakness Score (FWS). Muscle thickness of the orbicularis oris (OOr) and zygomaticus major (ZMj) was measured on both MRI and US, while MRI was additionally used for qualitative assessment of muscle bulk. Inter-rater reliability was assessed for imaging measurements.Results: MRI and US showed comparable facial muscle thickness, with mean ZMj thickness of 2.34 ± 0.75 mm and 2.12 ± 0.55 mm, and OOr thickness of 2.28 ± 0.70 mm and 2.20 ± 0.67 mm, respectively. Inter-rater reliability for MRI was high (ICC = 0.84), and reduced ZMj thickness showed moderate to strong correlation with greater disease severity (ρ up to 0.87, p < 0.001) and impaired facial gestures (ρ = 0.50-0.77, p < 0.05).Discussion: Despite the small sample size, MRI, and US assessment of facial muscles correlated with clinical severity and functional outcomes in FSHD, supporting their use as complementary tools. Longitudinal studies are required to establish imaging's role in monitoring changes over time.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1256-1262"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148679085","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

Myotonia: Recognition, Evaluation, and Differential Diagnosis. 肌强直：识别、评估和鉴别诊断。

IF 2.9 3区医学

Muscle & Nerve Pub Date : 2026-10-01 Epub Date: 2026-05-10 DOI: 10.1002/mus.70250

Jesse I Crayle, Muhammad Al-Lozi, Timothy M Miller

{"title":"Myotonia: Recognition, Evaluation, and Differential Diagnosis.","authors":"Jesse I Crayle, Muhammad Al-Lozi, Timothy M Miller","doi":"10.1002/mus.70250","DOIUrl":"10.1002/mus.70250","url":null,"abstract":"Myotonia is a non-neurotypical muscle physiology of sarcolemmal hyperexcitability due to alterations in the structure and/or function of ion channels in the muscle cell membrane. This hyperexcitability can be observed electrically as spontaneous myotonic discharges during needle electromyography. Myotonic discharges consist of continuous sequential fibrillation or positive sharp wave morphology potentials which exhibit unstable, gradually changing, firing frequencies and amplitudes. In myotonic disorders, a clinical correlate of muscle stiffness is often present. Myotonic disorders are broadly divided into myotonic dystrophies (Types 1 and 2) and non-dystrophic myotonias (myotonia congenita, paramyotonia congenita, and sodium channel myotonias). The myotonic dystrophies are systemic disorders of dysregulated RNA splicing clinically exhibiting fixed weakness, cataracts, diabetes and cardiac disease. Non-dystrophic myotonic disorders are due to specific sarcolemmal ion channel genetic variants and generally clinically limited to muscle stiffness (myotonia) sometimes with muscle weakness which can be fixed or periodic. Although electrical myotonia is a distinctive feature of myotonic disorders, it is nonspecific and may occur in other neuromuscular conditions. Widespread myotonic discharges strongly suggest a myotonic disorder or a handful of other conditions including necrotizing autoimmune myopathy, some toxic myopathies, Pompe disease and several congenital myopathies. This monograph reviews clinical myotonia and mimics, electrical myotonic discharges, electrodiagnostic testing in myotonic disorders and clinical features of myotonic disorders and other myopathies with myotonia.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1174-1195"},"PeriodicalIF":2.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13549170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868973","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