Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data [0.03%]
真实世界数据队列研究中瑞西多品与诺西那生对2型和3型脊髓性肌萎缩症患者的疗效对比分析
Mahmoud Reza Ashrafi,Marzieh Babaee,Seyed Saeed Hashemi Nazari et al.
Mahmoud Reza Ashrafi et al.
Background: Three medications have been approved for spinal muscular atrophy (SMA) treatment. No head-to-head clinical trials have directly compared the efficacy of nusinersen and risdiplam. We compare the efficacy of the...
Comparative Study
Journal of neuromuscular diseases. 2024 Nov;11(6):1190-1199. DOI:10.1177/22143602241288087 2024
Eden Daniel,Ian C Smith,Marcos L Sampaio et al.
Eden Daniel et al.
Inclusion body myositis (IBM) is an idiopathic muscle disorder primarily affecting adults above the age of 50. IBM is characterized by weakness in the knee extensor and deep finger flexor muscles due to muscle atrophy and fibroadipose repla...
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2 [0.03%]
第二型肌营养不良症患者预期寿命及其死亡原因
Manon J Damen,Otto G Muilwijk,Tom B G Olde Dubbelink et al.
Manon J Damen et al.
Background: Myotonic Dystrophy type 2 (DM2) is a dominantly inherited multisystem disease caused by a CCTG repeat expansion in intron 1 of the CNBP gene. Although in the last two decades over 1500 patients with DM2 have b...
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6 [0.03%]
KBTBD13基因致病性变异导致六型细丝蛋白包涵体肌病家系及病例报告
Esmee S B van Kleef,Karlijn Bouman,Joery P F Molenaar et al.
Esmee S B van Kleef et al.
Background: Nemaline myopathy type 6 (NEM6) or KBTBD13-related congenital myopathy is the most prevalent type of nemaline myopathy in the Netherlands and is characterised by mild childhood-onset axial, proximal and distal...
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy [0.03%]
瑞士LAMA2相关肌营养不良症患者队列的多中心横断面研究
Cornelia Enzmann,Leonie Steiner,Katarzyna Pospieszny et al.
Cornelia Enzmann et al.
Background: LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal-recessive disorder and one of the most common congenital muscular dystrophies. Due to promising therapies in preclinical development, there is an inc...
Multicenter Study
Journal of neuromuscular diseases. 2024;11(5):1021-1033. DOI:10.3233/JND-240023 2024
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort [0.03%]
印度人群中的GNE肌病的基因型-表型相关性及疾病进展研究
Dipti Baskar,Nishanth Reddy,Veeramani Preethish-Kumar et al.
Dipti Baskar et al.
Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Mo...
Observational Study
Journal of neuromuscular diseases. 2024;11(5):959-968. DOI:10.3233/JND-230130 2024
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies [0.03%]
laminA/C基因相关营养不良的国际回顾性自然史研究
Lauren Hinkley,Rotem Orbach,Justin Park et al.
Lauren Hinkley et al.
Background: LAMA2-related dystrophies (LAMA2-RDs) represent one of the most common forms of congenital muscular dystrophy and have historically been classified into two subtypes: complete or partial deficiency of laminin-...
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series [0.03%]
LAMA2相关性肌肉营养不良和SELENON相关性先天性肌病的心脏受累：一系列病例报告
Karlijn Bouman,Frederik M A van den Heuvel,Reinder Evertz et al.
Karlijn Bouman et al.
Background: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bo...