Neuromuscular Disorders最新文献

英文中文

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

WMS General Information WMS一般信息

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-01 DOI: 10.1016/S0960-8966(25)01050-8

引用次数: 0

WMS Congress 2026 Hiroshima WMS大会2026广岛

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-01 DOI: 10.1016/S0960-8966(25)01052-1

引用次数: 0

A New Chapter for Neuromuscular Disorders by C. Weihl 神经肌肉疾病的新篇章。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-01 DOI: 10.1016/j.nmd.2025.106308

引用次数: 0

ENMC Themed Workshops ENMC主题工作坊

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-01 DOI: 10.1016/S0960-8966(25)01051-X

引用次数: 0

The 2026 version of the gene table of neuromuscular disorders (nuclear genome) 2026年版神经肌肉疾病基因表（核基因组）。

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2026-01-01 DOI: 10.1016/j.nmd.2025.106303

Louise Benarroch , Gisèle Bonne , François Rivier , Vincent Procaccio , Dalil Hamroun

引用次数: 0

Learnings from a registry-based cohort study for spinal muscular atrophy disease 从一项基于登记的脊髓性肌萎缩病队列研究中获得的经验

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-12-30 DOI: 10.1016/j.nmd.2025.106332

Carla J. Jonker , Kelly Plueschke , Kieran C. Breen , Mencía de Lemus Belmonte , Patrice Verpillat , Alexandra Pacurariu

Spinal muscular atrophy is a rare recessive progressive neurodegenerative disorder. To better understand the progression of spinal muscular atrophy the European Medicines Agency launched a study based on registry data. This manuscript describes some lessons learnt and considerations how to improve future registry-based studies that aim to inform regulatory decision-making. The study started with a feasibility assessment to select appropriate registries from the TREAT-NMD network. The feasibility assessment is key to understand upfront the quality, capability and capacity of registries to address a research question, as well as the potential limitations. Several tools are available on how to assess and ultimately improve data quality. Data from a registry becomes more valuable if it can be linked to other data sources to supplement data. For regulatory decision-making on orphan drugs, it is crucial to collect comprehensive data from non-treated patients. Missing information for important variables in non-treated patients complicates comparison with data from treated patients, as this may introduce bias into the results. Collaboration with registries has demonstrated opportunities for access to registry data and the steps needed to improve data quality. This requires more support in the form of funding, resources and training to understand the legal requirements.

摘要脊髓性肌萎缩症是一种罕见的隐性进行性神经退行性疾病。为了更好地了解脊髓性肌萎缩症的进展，欧洲药品管理局启动了一项基于登记数据的研究。本文描述了一些经验教训和考虑如何改进未来的基于注册的研究，旨在为监管决策提供信息。这项研究首先进行了可行性评估，以便从《条约》- nmd网络中选择适当的登记处。可行性评估是预先了解登记处解决研究问题的质量、能力和能力以及潜在限制的关键。关于如何评估并最终提高数据质量，有几个工具可用。如果可以将来自注册中心的数据链接到其他数据源以补充数据，那么它将变得更有价值。对于孤儿药的监管决策，收集未治疗患者的全面数据至关重要。未治疗患者中重要变量信息的缺失使与治疗患者数据的比较复杂化，因为这可能会导致结果偏倚。与注册中心的协作证明了访问注册中心数据的机会以及提高数据质量所需的步骤。这需要以资金、资源和培训的形式提供更多支持，以了解法律要求。

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引用次数: 0

Monoclonal Gammopathy – the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy 单克隆伽玛病-散发性迟发性线状肌病和副蛋白血症性神经病的共同特征

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-12-18 DOI: 10.1016/j.nmd.2025.106313

Eleonora Torchia , Frauke Stascheit , Felix Kleefeld , Stephan J. Schreiber , Hans H. Goebel , Werner Stenzel

Sporadic late-onset nemaline myopathy (SLONM) is an acquired adult-onset myopathy characterized by subacute proximal weakness and nemaline rods in muscle. Although SLONM frequently occurs with monoclonal gammopathy of undetermined significance (MGUS), the coexistence with other MGUS-related disorders has not been reported. We describe three patients with SLONM and paraproteinemic neuropathy, showing sensory involvement and variable motor deficits, from mild non-progressive disease to a severe form with bulbar complications. Muscle histology revealed a significant number of fibres with nemaline rods and also frequent mitochondrial abnormalities, while nerve pathology demonstrated granular endoneurial deposits consistent with immune–complex–mediated neuropathy. One untreated patient remained stable, whereas the other two progressive, immunosuppressive-refractory cases improved with anti–plasma cell therapy. These cases illustrate a previously unreported co-occurrence of SLONM and MGUS-associated neuropathy. Despite differing clinical courses, shared pathology suggests common mechanisms, with mitochondrial abnormalities as a possibly under-recognized feature. Muscle and nerve biopsy including electronmicroscopic analysis is crucial for accurate diagnosis, and clone-directed therapy may provide benefit.

散发性迟发性线状肌病（SLONM）是一种获得性成年性肌病，其特征是亚急性近端无力和肌肉中的线状棒。虽然SLONM常与未确定意义的单克隆γ病（MGUS）一起发生，但与其他MGUS相关疾病的共存尚未见报道。我们描述了3例SLONM伴蛋白旁蛋白性神经病变的患者，表现为感觉受累和可变运动缺陷，从轻度非进行性疾病到严重的伴球并发症。肌肉组织学显示大量带有线状棒的纤维和频繁的线粒体异常，而神经病理学显示颗粒状神经内膜沉积与免疫复合物介导的神经病变一致。一名未经治疗的患者保持稳定，而另外两名进展性免疫抑制难治性病例通过抗浆细胞治疗得到改善。这些病例说明了以前未报道的SLONM和mgus相关神经病变的共同发生。尽管临床过程不同，但共同的病理表明了共同的机制，线粒体异常可能是一个未被认识到的特征。包括电子显微镜分析在内的肌肉和神经活检对于准确诊断至关重要，克隆定向治疗可能会带来好处。

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引用次数: 0

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders

Pub Date : 2025-12-16 DOI: 10.1016/j.nmd.2025.106312

Jonas Gillenstrand , Malin Broberg , Anna-Karin Kroksmark , Jennifer Strand , Mar Tulinius , Anne-Berit Ekström

This study investigated age-related differences in hot (affective-motivational) and cold (cognitive) executive functions (EF) in boys with Duchenne Muscular Dystrophy (DMD) across childhood and adolescence. In a cross-sectional design, 70 boys with DMD aged 5, 8, 11, and 14 years completed performance-based EF assessments, accompanied by parent-reported EF ratings. Longitudinal data were also collected from a subsample of 13 boys over a three-year period, with repeated assessments at the age intervals of 5–8, 8–11, and 11–14 years. At age 5, no significant EF impairments were observed. By age 8, however, significant deficits in hot EF tasks emerged, followed by impairments in cold EF at age 11. Cold EF performance indicated developmental delay rather than decline, as reflected in logits-based data. Longitudinal analyses using the Reliable Change Index revealed heterogeneous developmental patterns. Findings suggest that boys with DMD exhibit disrupted EF development, with increasing impairment through middle childhood and a potential positive trend from 11 to 14 years. These results underscore the importance of monitoring EF across a wider age range in this population.

本研究探讨了男孩杜氏肌营养不良症（DMD）在儿童期和青春期热（情感动机）和冷（认知）执行功能（EF）的年龄相关差异。在横断面设计中，70名年龄分别为5岁、8岁、11岁和14岁的DMD男孩完成了基于表现的EF评估，并附有父母报告的EF评分。纵向数据也从13个男孩的子样本中收集了三年的时间，并在5-8岁、8-11岁和11-14岁之间进行了重复评估。在5岁时，没有观察到明显的EF损伤。然而，到8岁时，在热英语任务中出现显著缺陷，随后在11岁时在冷英语任务中出现损伤。正如基于物流的数据所反映的那样，冷EF表现表明发育延迟而不是下降。使用可靠变化指数的纵向分析揭示了异质性的发展模式。研究结果表明，患有DMD的男孩表现出EF发育中断，在儿童中期损伤增加，11至14岁有潜在的积极趋势。这些结果强调了在更大的年龄范围内监测EF的重要性。

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Neuromuscular Disorders

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