Pain in adult and adolescent patients with 5q-associated Spinal Muscular Atrophy - an often underrated phenomenon [0.03%]
与5q相关性脊髓肌肉萎缩成人及青少年患者中的疼痛问题-一个常被低估的现象
Lisa M Keipert,Claudia D Wurster,Zeljko Uzelac et al.
Lisa M Keipert et al.
Background: Spinal muscular atrophy (SMA) is a genetic disorder leading to progressive muscle weakness and atrophy. Pain in SMA may be the consequence of the underlying neuromuscular disease but has hardly been investigat...
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers [0.03%]
卡那单抗（伊利雅斯）治疗从未使用过皮质类固醇的杜氏肌营养不良症儿童患者：一项探索性研究，评估潜在血清蛋白反应生物标志物的变化
Christopher F Spurney,Jessica Chong,Heather Gordish-Dressman et al.
Christopher F Spurney et al.
Background: Duchenne muscular dystrophy (DMD) is a progressive muscular disease associated with muscle fiber degeneration and increased inflammatory responses including Interleukin-1 beta (IL-1β) and other cytokines. Can...
Göknur Haliloğlu,Gianina Ravenscroft
Göknur Haliloğlu
Fetal akinesia is a broad term used to describe absent (or reduced, fetal hypokinesia) fetal movements, and it can be detected as early as the first trimester. Depending on the developmental age of onset, anything that interferes or limits ...
A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy [0.03%]
评估LGMDR4（β-肌连蛋白相关性四肢带状肌营养不良症）功能性疾病进展情况的前瞻性观察研究
Megan A Iammarino,Natalie F Reash,Kiana Shannon et al.
Megan A Iammarino et al.
Introduction: Limb-girdle muscular dystrophy (LGMD) R4, betasarcoglycanopathy, is a progressive muscle disease that frequently presents in childhood and results in loss of ambulation around 20 years of age. With intervent...
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related [0.03%]
小样本研究发现N末端titin片段作为LGMDR1-calpain 3相关肢带型肌营养不良的生物标志物
Andrea Valls,Cristina Ruiz-Roldán,Jenita Immanuel et al.
Andrea Valls et al.
We aimed to investigate the validity of urinary N-terminal titin (TTN) fragment as a biomarker for limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Thirteen LGMDR1 patients and eleven healthy controls were enrolled for the study. LG...
Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy - report of a national consensus workshop [0.03%]
突破常规：成人脊髓性肌萎缩症推荐结果测量的再评估-国家共识研讨会报告
Colleen O&#x;Connell,Xavier Rodrigue,Victoria Hodgkinson et al.
Colleen O&#x;Connell et al.
BackgroundDisease-modifying therapies for persons with spinal muscular atrophy (SMA) has led to greater need and demand for relevant outcomes assessments. Such tools help monitor disease progression, assess treatment response, and inform cl...
Kennedy's disease from India: An Indian Cohort with multisystemic manifestations [0.03%]
印度的肯尼迪病：一个多系统受累的印度肯尼迪病患者队列
Saranya B Gomathy,William L Macken,Nimita Rani et al.
Saranya B Gomathy et al.
BackgroundKennedy's disease (KD) is a rare, insidiously progressive lower motor neuron syndrome characterised by amyotrophy involving the appendicular or bulbar musculature of adult males in their fourth to fifth decade. There are no large ...
Application of the ENCALS predictive survival model in assessing the effect of the 24/44 inclusion criteria in FORTITUDE-ALS [0.03%]
ENCALS预测生存模型在FORTITUDE-ALS中评估纳入标准24/44疗效的应用研究
Tyrell Simkins Lead,Jeremy M Shefner,Stuart Kupfer et al.
Tyrell Simkins Lead et al.
FORTITUDE-ALS was a study evaluating reldesemtiv in people living with ALS. Post-hoc analysis identified larger treatment effects in those with symptom onset ≤24 months and baseline ALSFRS-R ≤ 44 (24/44 criteria). Using the ENCALS risk sc...
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study [0.03%]
X连锁型肌管性肌病和常染色体显性中心核型肌病的肝功能：UNITE-CNMP患者的数据显示
S Colombo,B S Cowling,L Eyler et al.
S Colombo et al.
Background: Centronuclear myopathies represent a subset of debilitating genetic disorders, for which no treatment exists. The Unite-CNM trial (NCT04033159) aimed to assess the effect of an antisense oligonucleotide to red...
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma [0.03%]
年轻女性副肿瘤抗SRP抗体阳性自身免疫性横纹肌溶解症与淋巴瘤相关
Johanna Heugenhauser,Franziska Di Pauli,Günther Stockhammer et al.
Johanna Heugenhauser et al.
We report an exceptional case of immune-mediated necrotizing myopathy (IMNM) associated with anaplastic large cell lymphoma (ALCL). A 26-year-old female patient presented with subacute bilateral proximal muscle weakness and myalgia, highly ...