Neuromuscular Disorders最新文献_第2页

Clinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat in the PROPEL study 在PROPEL研究中，从α糖苷酶切换到α糖苷酶加米卢司他的6分钟步行距离和强制肺活量对患有晚发性Pompe病的成人有重要的临床意义。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-28 DOI: 10.1016/j.nmd.2026.106360

Stephan Wenninger , Hani Kushlaf , Noemi Hummel , Brian Fox , Birgit Gloeckner , Fred Holdbrook , Vipul Jain , Markus Peceny , Benedikt Schoser , Kristl G. Claeys

We determined the proportion of adults with late-onset Pompe disease (LOPD) with clinically important changes in 6-minute walk distance (6MWD) and/or forced vital capacity (FVC) after switching from alglucosidase alfa (alg) to cipaglucosidase alfa plus miglustat (cipa+mig) in PROPEL (NCT03729362). This post hoc analysis (95 patients) used published anchor- and distribution-based minimal clinically important differences for 6MWD (in meters for anchor-based; % predicted for distribution-based) and a 3 % threshold for FVC (% predicted). For 6MWD, a higher percentage of patients improved after switching to cipa+mig versus alg plus placebo (alg+pbo) (anchor-based: 29.2 % versus 13.3 %; distribution-based: 33.8 % versus 13.3 %), fewer patients worsened (anchor-based: 12.3 % versus 26.7 %; distribution-based: 7.7 % versus 13.3 %). For FVC, 27.7 % versus 0.0 % improved for cipa+mig versus alg+pbo, 27.7 % versus 53.3 % worsened. Overall, 50.8 % versus 13.3 % of patients experienced improvements in 6MWD (% predicted) and/or FVC with cipa+mig versus alg+pbo, 30.8 % versus 56.7 % worsened. For combined responses from 6MWD (% predicted) and FVC (% predicted), the odds of a better versus a lower response category (improvement > stability > worsening) were 4.05 (95 % confidence interval 1.73–9.51) times higher for cipa+mig than alg+pbo (P = 0.0013). Adults with LOPD switching from alg to cipa+mig have greater chances of clinically relevant motor and lung function improvements than those remaining on alg.

我们确定了在PROPEL （NCT03729362）中，从α葡萄糖苷酶（alg）切换到α葡萄糖苷酶加米卢司他（cipa+mig）后，6分钟步行距离（6MWD）和/或强制肺活量（FVC）发生临床重要变化的迟发性Pompe病（LOPD）成人的比例。这项事后分析（95例患者）使用了已公布的基于锚点和基于分布的最小临床重要差异的6MWD（基于锚点的以米为单位；基于分布的预测百分比）和3%的FVC阈值（预测百分比）。对于6MWD，切换到cipa+mig与alg+安慰剂（alg+pbo）后改善的患者比例更高（锚定型：29.2% vs 13.3%；分布型：33.8% vs 13.3%），更少的患者恶化（锚定型：12.3% vs 26.7%；分布型：7.7% vs 13.3%）。对于FVC， cipa+mig和alg+pbo分别有27.7%和0.0%的改善，27.7%和53.3%的恶化。总体而言，50.8%比13.3%的患者在6MWD（预期百分比）和/或FVC （cipa+mig vs alg+pbo）中得到改善，30.8%比56.7%恶化。对于6MWD（%预测）和FVC（%预测）的联合反应，cipa+mig的较好与较低反应类别（改善b>稳定b>恶化）的几率是alg+pbo的4.05（95%置信区间1.73-9.51）倍（P = 0.0013）。成年LOPD患者从alg切换到cipa+可能比继续使用alg的患者有更大的临床相关运动和肺功能改善的机会。

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引用次数: 0

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease 尿糖四糖追踪迟发性庞贝病的疾病活动。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-27 DOI: 10.1016/j.nmd.2026.106359

Cristina Domínguez-González , Domenico Iannucci , James Clark , Paloma Martín-Jiménez , Stephan Hold , Petra Oliva , Anita Bischinger , Eduard Gallardo , Jordi Díaz-Manera

Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy caused by acid α-glucosidase deficiency, leading to glycogen accumulation in skeletal muscle. Reliable biomarkers for monitoring disease progression and treatment response are lacking. Urinary glucose tetrasaccharide (Glc4), a marker of glycogen turnover, is well established in infantile-onset Pompe disease, but its prognostic value in LOPD under longitudinal real-world conditions remains uncertain. Urinary Glc4 was evaluated in 35 genetically confirmed LOPD patients followed for four years with annual functional assessments, spirometry, and quantitative muscle MRI. Glc4 was measured by liquid chromatography–tandem mass spectrometry and normalized to creatinine. Associations with changes in six-minute walk test (6MWT), forced vital capacity (FVC), and thigh fat fraction (FF) were analyzed. Receiver operating characteristic (ROC) analysis assessed the ability of baseline Glc4 to predict clinically meaningful motor decline (>30 m reduction in 6MWT). Multivariate linear regression evaluated whether baseline Glc4 independently predicted 6MWT decline. Glc4 levels were elevated in all patients and showed considerable intra-individual variability. Higher baseline Glc4 was associated with greater functional decline and increased muscle fat replacement. ROC analysis showed good predictive performance (AUC 0.78), with an optimal threshold of approximately 13 mmol/mol creatinine. Baseline Glc4 remained an independent predictor of 6MWT decline in multivariate analysis (p = 0.042). Baseline urinary Glc4 provides relevant prognostic information in LOPD and may serve as a complementary biomarker for routine disease monitoring.

迟发性庞培病（LOPD）是一种由酸性α-葡萄糖苷酶缺乏引起的进行性代谢性肌病，导致骨骼肌中糖原积累。缺乏监测疾病进展和治疗反应的可靠生物标志物。尿糖四糖（Glc4）是一种糖原转换的标志物，在婴儿发病的Pompe病中得到了很好的证实，但在纵向现实条件下，其在LOPD中的预后价值仍不确定。对35例经基因证实的LOPD患者进行了尿Glc4评估，随访4年，每年进行功能评估、肺活量测定和定量肌肉MRI。Glc4采用液相色谱-串联质谱法测定，归一化为肌酐。分析了与6分钟步行试验（6MWT）、用力肺活量（FVC）和大腿脂肪分数（FF）变化的关系。受试者工作特征（ROC）分析评估了基线Glc4预测具有临床意义的运动功能下降的能力（6MWT时减少30米）。多元线性回归评估基线Glc4是否独立预测6MWT下降。所有患者的Glc4水平均升高，并表现出相当大的个体差异性。较高的基线Glc4与更大的功能衰退和增加的肌肉脂肪替代相关。ROC分析显示良好的预测性能（AUC 0.78），最佳阈值约为13 mmol/mol肌酐。在多变量分析中，基线Glc4仍然是6MWT下降的独立预测因子（p = 0.042）。基线尿Glc4可提供LOPD的相关预后信息，并可作为常规疾病监测的补充生物标志物。

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引用次数: 0

Correspondence on ‘Cardiac MRI for early detection of subclinical cardiac dysfunction in dysferlinopathy’ by Thomas et al. Thomas等人关于“心脏MRI早期检测亚临床心功能异常”的对应文章。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-22 DOI: 10.1016/j.nmd.2026.106357

Holly Borland, John Bourke, Volker Straub

引用次数: 0

Meeting report: Expanding access to advanced cardiac therapies, including ventricular assist devices (VADs) and heart transplantation in muscular dystrophy 会议报告：扩大先进心脏治疗的可及性，包括心室辅助装置（VADs）和肌肉萎缩症患者的心脏移植

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-20 DOI: 10.1016/j.nmd.2026.106338

Seth A. Hollander, David Rosenthal

Cardiomyopathy remains a leading cause of mortality in Duchenne muscular dystrophy (DMD), yet advanced therapies such as ventricular assist devices (VAD) and heart transplantation are rarely considered. In September 2024, a multidisciplinary group of neuromuscular specialists, cardiologists, intensivists, anesthesiologists, surgeons, respiratory therapists, rehabilitation specialists, and patient advocates convened to challenge the clinical challenges and institutional barriers that have historically excluded individuals with DMD from these life-prolonging interventions. The charge of the meeting was to develop a practical roadmap to guide the timely referral, evaluation, and management of DMD patients with advanced heart failure. Presentations focused on the evolving treatment landscape and reviewed limitations of standard heart failure assessments—including ejection fraction and symptomatology—while exploring alternative evaluation tools such as cardiac MRI, biomarkers, adapted exercise testing, and patient-reported outcomes. Discussions addressed candidacy, surgical considerations, respiratory and nutritional optimization, and psychosocial supports. Participants determined that VAD and transplant should be offered to appropriate candidates and began collaborative development of clinical protocols, which were then completed and published online approximately one year after the meeting concluded.

心肌病仍然是杜氏肌营养不良症（DMD）死亡的主要原因，然而先进的治疗方法，如心室辅助装置（VAD）和心脏移植很少被考虑。2024年9月，一个由神经肌肉专家、心脏病专家、重症医师、麻醉师、外科医生、呼吸治疗师、康复专家和患者倡导者组成的多学科小组召开会议，挑战临床挑战和制度障碍，这些障碍历来将DMD患者排除在这些延长生命的干预措施之外。会议的目的是制定一个实用的路线图，指导DMD合并晚期心力衰竭患者的及时转诊、评估和管理。演讲集中于不断发展的治疗前景，回顾了标准心力衰竭评估的局限性，包括射血分数和症状，同时探索了其他评估工具，如心脏MRI、生物标志物、适应性运动测试和患者报告的结果。讨论讨论了候选人资格、手术考虑、呼吸和营养优化以及社会心理支持。与会者确定VAD和移植应该提供给合适的候选人，并开始合作制定临床方案，然后在会议结束后大约一年后完成并在线发布。

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引用次数: 0

Preemptive immunotherapy for fetal acetylcholine receptor antibody disorder (FARAD): from recurrent pregnancy losses to a healthy infant - a case report 胎儿乙酰胆碱受体抗体紊乱（FARAD）的预防性免疫治疗：从复发性妊娠丢失到健康婴儿-一例报告。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-20 DOI: 10.1016/j.nmd.2026.106354

Stefan Verlohren , Christof Dame , Beate Mayer , Iris Dressler-Steinbach , Claus-Eric Ott , Inga Koneczny , Marlene Wolfsgruber , Sarah Hoffmann , Andreas Meisel

Maternal antibodies against the fetal acetylcholine receptor (fAChR) can cause fetal acetylcholine receptor antibody-related disorders (FARAD), a rare but important cause of arthrogryposis multiplex congenita (AMC) and Fetal Akinesia Deformation Sequence (FADS), with recurrence rates up to 100%. Unlike genetic causes, FARAD may respond to maternal immunotherapy, yet standardized treatment protocols are lacking. We report four pregnancies in an asymptomatic mother with confirmed fAChR antibodies. After three fetal losses due to FARAD and two unsuccessful treatment attempts initiated only after sonographic abnormalities, a healthy infant was delivered in the fourth pregnancy following a pre-planned preemptive approach. Treatment, initiated at week 10 of gestation, consisted of plasmapheresis (PLEX) and subsequent weekly high-dose intravenous immunoglobulin (IVIg). Fetal serum after birth confirmed fAChR antibodies on cell-based assays (live and fixed). This case series underscores the importance of recognizing fAChR antibodies as differential diagnosis of AMC in asymptomatic mothers and of early, consistent antibody-reducing therapy to prevent FARAD-related pregnancy losses.

母体抗胎儿乙酰胆碱受体（fAChR）抗体可引起胎儿乙酰胆碱受体抗体相关疾病（FARAD），这是一种罕见但重要的多发性先天性关节挛缩症（AMC）和胎儿肌动症变形序列（FADS）的原因，复发率高达100%。与遗传原因不同，FARAD可能对母体免疫治疗有反应，但缺乏标准化的治疗方案。我们报告了一位无症状母亲的四次妊娠，证实了fAChR抗体。经过三次因FARAD导致的胎儿损失和两次仅在超声检查异常后才开始的不成功的治疗尝试，在预先计划的先发制人的方法下，在第四次怀孕中分娩了一个健康的婴儿。治疗开始于妊娠第10周，包括血浆置换（PLEX）和随后的每周大剂量静脉注射免疫球蛋白（IVIg）。出生后的胎儿血清经细胞检测（活的和固定的）证实有fAChR抗体。本病例系列强调了在无症状母亲中识别fAChR抗体作为AMC鉴别诊断的重要性，以及早期一致的抗体降低治疗以预防farad相关妊娠损失的重要性。

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引用次数: 0

Beyond motor function: cognitive and language impairments in spinal muscular atrophy children treated with modern therapies 超越运动功能：用现代疗法治疗脊髓性肌萎缩症儿童的认知和语言障碍

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-16 DOI: 10.1016/j.nmd.2026.106340

Mathilde Guibert , Marie Canton , Delphine Saunier , Sandra Gharbi , Melodie Campiglia , Hélène Vincent , Mathieu Kuchenbuch , Cyril Schweitzer , Clémentine Lambert

Recent disease-modifying treatments have markedly improved the motor prognosis of spinal muscular atrophy, yet the neurocognitive and language outcomes of treated children remain insufficiently characterized. This monocentric observational study included sixteen children with genetically confirmed Spinal muscular atrophy types I–III (10 males; age 2.6–15.4 years; 5 with type I, 5 type II, and 6 type III) treated with at least one disease-modifying therapy and followed at our center. Participants underwent standardized assessments of intellectual abilities, executive functions, social cognition, memory, and language, complemented by parent questionnaires. Data were analyzed descriptively given the small and heterogeneous sample. Intellectual functioning was preserved (mean IQ = 102 ± 4), with no cases of intellectual disability, although 15% showed executive dysfunctions (e.g., inhibition, cognitive flexibility) not perceived by parents. Oral language disorders were found in 73% of individuals, affecting phonology, lexicon, and morphosyntax, and were more frequent in children with more severe motor phenotypes and fewer SMN2 copies. Written language disorders were identified in 29% of individuals, even without major motor impairment. Routine neuropsychological and speech-language assessments should be integrated into multidisciplinary care to enable earlier detection, targeted interventions, and improved long-term outcomes.

最近的疾病改善治疗显著改善了脊髓性肌萎缩症的运动预后，但治疗后儿童的神经认知和语言预后仍不充分。这项单中心观察性研究纳入了16名经基因证实的I - III型脊髓性肌萎缩症儿童（10名男性，年龄2.6-15.4岁；5名I型，5名II型，6名III型），接受了至少一种疾病改善治疗，并在本中心随访。参与者接受了智力、执行功能、社会认知、记忆和语言的标准化评估，并辅以父母的问卷调查。由于样本小且异质性，对数据进行了描述性分析。智力功能被保留（平均智商= 102±4），没有智力残疾的病例，尽管15%表现出执行功能障碍（例如，抑制，认知灵活性），而父母没有察觉到。73%的个体存在口语障碍，影响音韵学、词汇和形态语法，在运动表型更严重、SMN2拷贝数更少的儿童中更常见。29%的人有书面语言障碍，即使没有严重的运动障碍。常规的神经心理学和言语语言评估应整合到多学科护理中，以实现早期发现、有针对性的干预和改善长期结果。

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引用次数: 0

Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy 运动单元磁共振成像（MUMRI）作为脊髓性肌萎缩症中肌肉活动的一种新的生物标志物

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-15 DOI: 10.1016/j.nmd.2026.106337

Matthew G. Birkbeck , Ian S. Schofield , Ian Wilson , James Bashford , Julie Hall , Chiara Marini-Bettolo , Volker Straub , Roger G. Whittaker , Andrew M. Blamire

Motor unit MRI (MUMRI) non-invasively detects fasciculation, a common symptom of SMA and potential biomarker for clinical trials. We applied MUMRI in ten SMA III patients and ten controls comparing fasciculation rates. Images of the tongue, upper arm, paraspinal and thighs & lower legs were acquired using MUMRI and 3-point Dixon (fat fraction) sequences. Fasciculation rate (cm⁻³min⁻¹) was significantly higher in SMA than controls for: paraspinal 0.15 ± 0.20 vs. 0.003 ± 0.006, p = 0.001, thighs 1.28 ± 1.76 vs. 0.008 ± 0.005, p = 0.002 and lower legs 0.53 ± 0.85 vs. 0.02 ± 0.02, p = 0.001, but not for the tongue 0.20 ± 0.20 vs. 0.06 ± 0.09, p = 0.082 or upper arm 0.45 ± 0.95 vs. 0.002 ± 0.004, p = 0.014. Fat fraction %, was significantly higher in SMA than controls for: upper arm 35.0 ± 25.4 vs. 4.2 ± 1.1, p<<0.001, paraspinal 41.4 ± 31.0 vs. 7.4 ± 4.5, p = 0.002, thighs 54.8 ± 23.8 vs. 5.7 ± 1.0, p<<0.001 and lower legs 29.6 ± 23.5 vs. 4.4 ± 0.9, p = 0.0003, but not for the tongue 13.9 ± 3.2 vs. 13.0 ± 3.3, p = 0.393. MUMRI is an attractive non-invasive biomarker, which could be used to monitor progression & response in SMA clinical trials.

运动单元MRI （MUMRI）无创检测肌束，这是SMA的一种常见症状，也是临床试验的潜在生物标志物。我们将MUMRI应用于10名SMA III型患者和10名对照患者，比较其心动速率。使用MUMRI和3点Dixon（脂肪分数）序列获得舌部、上臂、棘旁和大腿和小腿的图像。SMA组的束动率（cm−3min−1）显著高于对照组：棘旁0.15±0.20比0.003±0.006,p = 0.001，大腿1.28±1.76比0.008±0.005,p = 0.002，小腿0.53±0.85比0.02±0.02,p = 0.001，但舌0.20±0.20比0.06±0.09,p = 0.082，上臂0.45±0.95比0.002±0.004,p = 0.014。SMA组脂肪分数%显著高于对照组：上臂35.0±25.4比4.2±1.1,p = 0.001，椎管旁41.4±31.0比7.4±4.5,p = 0.002，大腿54.8±23.8比5.7±1.0,p = 0.001，小腿29.6±23.5比4.4±0.9,p = 0.0003，舌13.9±3.2比13.0±3.3,p = 0.393。MUMRI是一种有吸引力的非侵入性生物标志物，可用于监测SMA临床试验的进展和反应。

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引用次数: 0

Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort 儿童期诊断的面肩肱骨肌萎缩症：肌萎缩症监测、跟踪和研究网络队列

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-09 DOI: 10.1016/j.nmd.2026.106334

Tahereh Neyaz , Kristin M Conway , Yining Yang , Russell J Butterfield , Swamy Venkatesh , Paul A Romitti , Katherine D Mathews , the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

Reports of clinical characteristics of FSHD in childhood have often focused on the most severely affected. To include children in clinical trials, it is important to understand the full pediatric spectrum. The Muscular Dystrophy Surveillance, Tracking, and Research Network provides a population-based, cross-sectional cohort of children diagnosed with FSHD. Children diagnosed before 19 years of age during 2008–2019 were included (n = 93). Clinical characteristics abstracted from the medical record included motor symptoms, genetic test results, and family history. Of those with known FSHD type (n = 73 of 93, 78.8 %), 72 (98.6 %) had FSHD1. Among those with FSHD1, the most frequent D4Z4 repeat category was 1–3 repeats (n = 33, 45.8 %) and few had 7–10 repeats (n = 7, 9.7 %). Among those with FSHD1 and known symptom onset age (n = 70), 22 (31.4 %) had early onset disease. Overall, most (88.2 %) were ambulatory at last visit. The number of children diagnosed increased steadily across childhood, suggesting a continuous spectrum of age at onset. The most common co-morbidity was hearing loss (n = 19 of 93, 20.4 %); most commonly among children with FSHD1 and 1–3 D4Z4 repeats (n = 13 of 33, 39.4 %). Our series provides data to support the design of pediatric FSHD trials, critical to ensure timely access to future effective treatments.

儿童FSHD的临床特征报告往往集中在最严重的影响。为了将儿童纳入临床试验，了解儿科的全部谱系是很重要的。肌萎缩症监测、跟踪和研究网络提供了一个以人群为基础的诊断为FSHD的儿童横断面队列。纳入了2008-2019年期间19岁前确诊的儿童（n = 93）。从病历中提取的临床特征包括运动症状、基因检测结果和家族史。在已知FSHD类型的患者中（n = 73 / 93, 78.8%），有72例（98.6%）发生FSHD1。在FSHD1患者中，D4Z4重复最多的是1-3个重复（n = 33, 45.8%），较少的是7 - 10个重复（n = 7, 9.7%）。在已知症状发病年龄的FSHD1患者中，22例（31.4%）为早发性疾病。总体而言，大多数（88.2%）在最后一次访问时是走动的。在整个儿童期，被诊断为自闭症的儿童数量稳步增加，这表明发病时的年龄谱是连续的。最常见的合并症是听力损失（n = 19 / 93, 20.4%）；最常见于FSHD1和1-3 D4Z4重复的儿童（n = 13 / 33, 39.4%）。我们的系列研究提供了数据来支持儿科FSHD试验的设计，这对于确保及时获得未来有效的治疗方法至关重要。

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引用次数: 0

Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical management 通过光学基因组定位对基因内DMD基因重复进行重新分类，解决了不确定性，改善了临床管理

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-09 DOI: 10.1016/j.nmd.2026.106335

Elizabeth Ulm Seiwert , Xinrui Shi , Alyxis Coyan , Sarah Crawford , Ammar Husami , Cuixia Tian , Alex Zygmunt , Hani Kushlaf , Jie Liu , Chinmayee B Nagaraj

Pathogenic copy number and sequence variants in the dystrophin (DMD) gene cause X-linked dystrophinopathies. Predicting the clinical consequences of intragenic DMD duplications is challenging because their functional impact depends on the physical location of the duplicated material, which cannot be determined through conventional testing. Optical genome mapping is a method of structural variant analysis that can identify both the quantity and location of rearranged segments. We report three male patients with intragenic DMD duplications whose significance was revised using clinical optical genome mapping. Two were inserted outside of the DMD gene and reclassified as likely benign. The third was situated in tandem with the original sequence and reclassified as pathogenic. These cases emphasize the importance of evaluating the genomic location of DMD duplications, particularly when the patient’s phenotype does not align with their genotype classification, and highlight the implications for clinical management and genetic counseling.

肌营养不良蛋白（DMD）基因的致病性拷贝数和序列变异导致x连锁肌营养不良病。预测基因内DMD重复的临床后果具有挑战性，因为它们的功能影响取决于复制材料的物理位置，而这无法通过常规测试确定。光学基因组图谱是一种结构变异分析方法，可以识别重排片段的数量和位置。我们报告了三例基因内DMD重复的男性患者，其意义通过临床光学基因组图谱进行了修订。其中两个被插入到DMD基因之外，并被重新分类为可能是良性的。第三个序列与原序列串联，并被重新分类为致病性。这些病例强调了评估DMD重复的基因组定位的重要性，特别是当患者的表型与他们的基因型分类不一致时，并强调了临床管理和遗传咨询的意义。

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引用次数: 0

Evaluating efficacy of clinical tools in determining causes of recurrent rhabdomyolysis 评估临床工具在确定复发性横纹肌溶解原因方面的疗效

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-09 DOI: 10.1016/j.nmd.2026.106333

Dhruv Nandakumar , Salman Bhai

Rhabdomyolysis is a poorly understood condition characterized by the rapid breakdown of skeletal muscle tissue. Recurrent episodes are very debilitating, and these patients often undergo extensive workup with no etiology identified. Maximal cycle exercise testing (CPX) provides numerical markers which when elevated can provide evidence of a peripheral limitation to exercise. Twenty-three patients with recurrent rhabdomyolysis episodes performed ramp cycle testing where they pedaled between 60-70 rpm at 2 sub-maximal and one maximal exercise state. Data collected included heart rate, blood pressure, oxygen saturation, oxygen consumption, and cardiac output. These patients’ files were also queried for EMG, DNA, or biopsy testing. Only 2 of 10 EMG studies showed myopathic studies, 1 of which was associated with an underlying myopathy. 20 muscle biopsies showed normal non-specific changes with only 1 indicating a possible underlying myopathy. Nuclear DNA testing only identified a definitive cause in 1 of 20 cases with an additional 12 showing variants of unknown significance in rhabdomyolysis associated genes. 4 patients had an elevated ratio of cardiac output to maximal oxygen consumption, all of which had positive mitochondrial DNA testing. CPX shows potential as a non-invasive method of identifying people at risk of recurrent rhabdomyolysis episodes before further testing. Further studies exploring the role of polygenic mutations in rhabdomyolysis would be beneficial.

横纹肌溶解是一种以骨骼肌组织快速分解为特征的疾病。反复发作是非常虚弱的，这些患者经常进行广泛的检查，没有确定病因。最大运动周期测试（CPX）提供了数值标记，当CPX升高时，可以作为运动外围限制的证据。23例复发性横纹肌溶解发作的患者进行了斜坡周期测试，他们在2次最大运动状态和1次最大运动状态下蹬车60-70 rpm。收集的数据包括心率、血压、血氧饱和度、耗氧量和心输出量。对这些患者的档案也进行了肌电图、DNA或活检检查。10项肌电图研究中只有2项显示肌病研究，其中1项与潜在的肌病有关。20例肌肉活检显示正常的非特异性改变，只有1例显示可能存在潜在的肌病。核DNA检测仅在20例中确定了1例的明确病因，另外12例显示横纹肌溶解相关基因的未知意义变异。4例患者心输出量与最大耗氧量比值升高，线粒体DNA检测均呈阳性。CPX作为一种非侵入性方法，在进一步检查前识别有复发性横纹肌溶解发作风险的人群，具有潜力。进一步研究多基因突变在横纹肌溶解中的作用将是有益的。

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引用次数: 0