Burden of illness of Duchenne muscular dystrophy in Belgium: A retrospective, descriptive, cross-sectional study [0.03%]
比利时杜氏肌营养不良症的疾病负担：一项回顾性、描述性、横断面研究
Sam Geuens,Lauranne Beeckman,Stephen Dukacz et al.
Sam Geuens et al.
Duchenne muscular dystrophy (DMD) is a progressive, neuromuscular disorder with significant morbidity and mortality. This study aimed to quantify the socioeconomic burden of DMD in Belgium, assessing direct medical and non-medical costs, in...
Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1 [0.03%]
重复序列的扩增与影响的扩大—包涵体肌炎1型中体细胞不稳定性的研究
Thomas D Hoekman,Nehaa Kp Ponraj,Diana Shabshai et al.
Thomas D Hoekman et al.
Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder caused by a CTG(n) repeat expansion in the 3'-untranslated region of the DMPK gene. The repeat tract becomes unstable when exceeding approximately 35 to 50 CTG triple...
Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy [0.03%]
成人SMA REACH：英国脊髓性肌萎缩症成人患者的临床网络和真实世界数据收集研究
Jess Page,Elena Karkkainen,Sonia Segovia et al.
Jess Page et al.
Adult SMA REACH is a Research and Clinical Hub in the UK that established a collaborative clinical network for Spinal Muscular Atrophy (SMA) in 2020 across 19 clinical sites, patient advocacy groups, regulators, and industry. In recent year...
Not only cross-sectional area: Echogenicity matters in nerve ultrasound studies of patients with motor multifocal neuropathy [0.03%]
不只是横截面积：超声研究运动性多发性神经病变患者的回声强度也很重要
Simona Maccora,Sabrina Sacconi,Nicolas Azulay et al.
Simona Maccora et al.
Nerve ultrasound (n-US) supports the diagnosis of multifocal motor neuropathy (MMN), though most studies focus on nerve enlargement (NE) and its distribution. This study explored nerve echotexture using ultrahigh-frequency ultrasound (UH-FU...
Response to noninvasive home mechanical vEntilation in Myotonic Dystrophy type 1: The multicenter REMeDY study [0.03%]
无创家庭机械通气在DM1患者中的疗效分析：REMEdY多中心研究
Bettine Ah Vosse,Leandre André la Fontaine,Nicolle Cobben et al.
Bettine Ah Vosse et al.
Myotonic dystrophy type 1 (DM1) frequently leads to chronic respiratory failure, yet the effectiveness of noninvasive home mechanical ventilation (HMV) remains understudied. Our objective was to assess the effects of HMV on gas exchange, he...
Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome [0.03%]
SOX5相关先天性核心肌病：Lamb-Shaffer综合征表型谱系的扩展
Katia Staedler,Anna Gerasimenko,Caroline Nava et al.
Katia Staedler et al.
Haploinsufficiency of SOX5 causes Lamb-Shaffer syndrome, a rare condition with developmental delay, impaired language and intellectual disability and optic nerve abnormalities. Muscle involvement is poorly characterized. We report a 20-year...
Trunk control status in children with neuromuscular disorders and typically developing children: Is there a measurable difference? [0.03%]
神经肌肉疾病儿童与正常发育儿童的躯干控制能力状况：是否存在可测量的区别？
Tania E Sakanaka,Penelope B Butler,Richa Kulshrestha et al.
Tania E Sakanaka et al.
Aim: To test sensitivity of the Segmental Assessment of Trunk Control (SATCo) to changes in neutral vertical (NV) head and trunk control in children with neuromuscular disorders (NMD) and compared with typically developin...
Therapeutic strategies targeting muscle stem cells in satellite cell-opathies [0.03%]
针对卫星细胞病理性状的肌肉干细胞治疗策略
Pauline Garcia,Inès Mokhtari,Nicolas A Dumont
Pauline Garcia
Satellite cells, the resident muscle stem cells, are essential for skeletal muscle post-natal growth and regeneration. Dysfunction in these cells contributes to a group of muscle disorders known as satellite cell-opathies, which can be cate...
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1 [0.03%]
一分钟步行试验中DM1患者的步态变化分析
Fabio Alexander Storm,Eleonora Diella,Luca Emanuele Molteni et al.
Fabio Alexander Storm et al.
Background: Myotonic Dystrophy Type 1 is a rare multisystem disorder, with symptoms including progressive muscle weakness, myotonia and fatigue. Although mobility measures are now common in several tests performed in clin...
The natural history of Becker muscular dystrophy: A systematic literature review [0.03%]
贝克尔型肌营养不良的自然病史：系统文献综述
Alexis T Mickle,Karissa M Johnston,Kristen L Ricchetti-Masterson et al.
Alexis T Mickle et al.
Background: Becker muscular dystrophy (BMD) is caused primarily by in-frame mutations in the DMD gene. Phenotype varies from asymptomatic to severe; manifestations may include muscle weakness, scoliosis, cardiac involveme...