Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry [0.03%]
气管切开脊髓性肌萎缩症患者使用onasemnogene abeparvovec治疗后的安全性及运动功能结果：RESTORE登记研究数据
Yasemin Erbaş,Laurent Servais,Perry B Shieh et al.
Yasemin Erbaş et al.
We evaluated the safety and effectiveness of onasemnogene abeparvovec (OA) for 34 patients with spinal muscular atrophy (SMA) and tracheostomies enrolled in the RESTORE registry. Most patients (76.5%) received other SMA treatments before an...
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations [0.03%]
治疗脊髓性肌萎缩症患者的onasemnogene abeparvovec基因疗法：更新的现实世界实用性考虑因素
Crystal M Proud,Elizabeth A Kichula,Susan E Matesanz et al.
Crystal M Proud et al.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease resulting from biallelic pathogenic variants of the survival motor neuron 1 (SMN1) gene that leads to motor neuron degeneration, progressive muscle atrophy, and w...
Disease modifying therapies for children with spinal muscular atrophy - parents' experiences of hopes, grief and need for rehabilitation for their child [0.03%]
脊髓性肌萎缩症患儿的疾病修正治疗——父母对其孩子的希望、悲伤和康复需求的经验体会
Charlotte Handberg,Pia Zinck Drivsholm,Ulla Werlauff et al.
Charlotte Handberg et al.
Purpose: To investigate how parents of children with SMA who are treated with disease modifying therapies cope with hopes and worries related to disease progression, and to investigate their needs for counseling and rehab...
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States [0.03%]
美国庞贝病患者接受酶替代治疗的疾病负担的回顾性队列研究描述
Nishitha R Pillai,Faryn Solomon,Robert D Steiner et al.
Nishitha R Pillai et al.
ObjectiveTo describe the disease burden in patients with Pompe disease treated with enzyme replacement therapy (ERT) in the US as defined by comorbid conditions, supportive services, and treatment patterns.MethodsA retrospective cohort stud...
Real-world evidence on nusinersen treatment of persons with SMA: a focused review [0.03%]
关于SMA患者的nusinersen治疗的现实世界证据：一篇综述文章
Susan E Matesanz,Richard S Finkel
Susan E Matesanz
Nusinersen is a designer drug for spinal muscular atrophy (SMA) and was the first approved treatment for this once deadly disease. It is an antisense oligonucleotide that pairs with a specific locus of the Survival Motor Neuron 2 (SMN2) gen...
Merve Kocyigit,Jan Piet van Hamburg,Eleonora Aronica et al.
Merve Kocyigit et al.
Idiopathic inflammatory myopathies (IIM), also known as myositis, are a group of heterogeneous autoimmune diseases characterized by muscle inflammation and frequent involvement of extramuscular organs. Autoantibodies are present in approxim...
Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts [0.03%]
印度脊髓性肌萎缩症患者旅程、治疗障碍及战略建议：来自专家的见解
Sheffali Gulati,Anzeen Nazir Kanth,Ashwin Dalal et al.
Sheffali Gulati et al.
Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease that affects patients and caregivers worldwide, including in India, with a significant economic burden. ...
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness [0.03%]
一名以近端肌无力为主要表现的晚发庞贝病患者被皮肌炎掩盖
Omar Keritam,Philipp Haas,Sigrid Klotz et al.
Omar Keritam et al.
Slowly progressive proximal muscle weakness in an otherwise healthy male posed particular challenges for the treating physicians, considering the wide range of possible differentials. Here we present a case of a 52-year-old male with parapa...
A pilot study using actigraphy to examine activity performance and its relationship with activity capacity in adults with facioscapulohumeral muscular dystrophy [0.03%]
采用计步法检测FSHD成人患者的实际活动量及其与活动能力间关系的初步研究
Nicole T Koopman,Johanna I Hamel,Michaela E Walker et al.
Nicole T Koopman et al.
BackgroundWeakness associated with facioscapulohumeral muscular dystrophy (FSHD) impacts daily activities. Impact is often measured using standardized clinical assessments, documenting activity capacity, and only captures a snapshot of func...