Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy [0.03%]
估算X连锁性板层肌溶解症对生活质量的影响
Andrew Lloyd,Daniel Aggio,Ted L Slocomb et al.
Andrew Lloyd et al.
X-linked myotubular myopathy (XLMTM) is a rare, severe, neuromuscular disorder for which novel treatments are under investigation. This study estimated quality-of-life weights (or utilities) for children with XLMTM. The state that was rated...
Clinical Trial
Journal of neuromuscular diseases. 2021;8(6):1047-1061. DOI:10.3233/JND-210686 2021
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy [0.03%]
肌张力障碍的临床结果评估和CBT反应预测
Daniël van As,Kees Okkersen,Guillaume Bassez et al.
Daniël van As et al.
Background: The European OPTIMISTIC clinical trial has demonstrated a significant, yet heterogenous effect of Cognitive Behavioural Therapy (CBT) for Myotonic Dystrophy type 1 (DM1) patients. One of its remaining aims was...
Randomized Controlled Trial
Journal of neuromuscular diseases. 2021;8(6):1031-1046. DOI:10.3233/JND-210634 2021
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases [0.03%]
罕见疾病实践指南和知识转化工具的稀有知识挖掘方法框架
C Gagnon,J Fortin,M E Lamontagne et al.
C Gagnon et al.
Rare diseases bring on a heavy health, social and economic burden that impacts patients' lives and puts pressure on the healthcare system. Furthermore, they are often associated with limited published studies to inform multidisciplinary cli...
Shin&#x;ichi Takeda,Paula R Clemens,Eric P Hoffman
Shin&#x;ichi Takeda
Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door t...
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 2 [0.03%]
扩散张量成像显示1型和2型肌营养不良的差异
R Rehmann,C Schneider-Gold,M Froeling et al.
R Rehmann et al.
Background: Myotonic Dystrophies type 1 and type 2 are hereditary myopathies with dystrophic muscle degeneration in varying degrees. Differences in muscle diffusion between both diseases have not been evaluated yet. ...
Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge [0.03%]
Duchenne型肌营养不良症和肢带型肌营养不良症2I中的回复子现象及其治疗意义：特伦斯·帕特里奇指导下的研究综述
Qi Long Lu
Qi Long Lu
This review recollects my initial research focus on revertant fibers (expressing dystrophin in the background of frame-shifting mutation) in Duchenne muscular dystrophy (DMD) muscles in Professor Terrence Partridge's Muscle Cell Biology Lab...
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature [0.03%]
儿童抗逆转录病毒治疗相关炎性肌炎的病例报告和文献回顾
Marie Monaghan,Charlotte Loh,Stephen Jones et al.
Marie Monaghan et al.
Here, we describe a five year old girl with congenital HIV who had a six-week onset of rapidly deteriorating mobility and progressive proximal muscle weakness, associated with a raised Creatine Kinase (CK) level of 4330 U/L [25-200 U/L], su...
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD [0.03%]
DMD患儿功能时长测试年变化的最小临床重要差异(MCID)
Tina Duong,Jennifer Canbek,Marisa Birkmeier et al.
Tina Duong et al.
Background: Duchenne muscular dystrophy (DMD) is a rare x-linked recessive genetic disorder affecting 1 in every 5000-10000 [1, 2]. This disease leads to a variable but progressive sequential pattern of muscle weakness th...
Multicenter Study
Journal of neuromuscular diseases. 2021;8(6):939-948. DOI:10.3233/JND-210646 2021
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1 [0.03%]
肌力、动态稳定性和跌倒的情况如何？DM1患者长达十年的纵向随访研究
Elisabet Hammarén,Lena Kollén
Elisabet Hammarén
Background: Individuals with myotonic dystrophy type 1 (DM1) are known to stumble and fall, but knowledge is scarce regarding dynamic stability in this disorder. ...
COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome [0.03%]
先天性肌无力综合征患者中的COVID-19病例分析
Setareh Alabaf,Karen O&#x;Connell,Sithara Ramdas et al.
Setareh Alabaf et al.
Congenital Myasthenic Syndromes (CMS) are a rare group of genetic disorders of neuromuscular transmission. Some subtypes of CMS can be associated with respiratory and bulbar weakness and these patients may therefore be at high risk of devel...