Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA [0.03%]
Kristin J Krosschell,Sally Dunaway Young,Elizabeth Maczek et al.
Kristin J Krosschell et al.
Background: Approved disease modifying treatments (DMTs) and the implementation of newborn screening for spinal muscular atrophy (SMA) have allowed individuals treated early to gain new motor abilities and achieve more ty...
Julia M Hartman,Samuel Carrell,William J Groh et al.
Julia M Hartman et al.
Cardiac disease is a well-established manifestation of myotonic dystrophy type 1 (DM1), characterized by progressive cardiac conduction slowing with increased risk of atrial and ventricular arrhythmias, heart block, and sudden cardiac death...
Transforming the natural course of infantile onset thymidine kinase 2 deficiency through early nucleoside replacement therapy [0.03%]
Gulcin Akinci,Javid Sardarzada,Haluk Topaloglu
Gulcin Akinci
Background: Thymidine kinase 2 (TK2) deficiency is an ultra-rare, severe mitochondrial myopathy caused by pathogenic variants in TK2 and characterized by a wide range of ages at onset. The infantile form, presenting befor...
Real-world effectiveness and safety of zilucoplan in patients with anti-AChR myasthenia gravis: A retrospective cohort study in France [0.03%]
Giulia Tammam,Abderhmane Slioui,Diane Friedman et al.
Giulia Tammam et al.
ObjectivesTo evaluate the effectiveness and safety of zilucoplan in the real-world treatment setting in France.MethodsThis retrospective cohort study evaluated patients with generalized anti-AChR myasthenia gravis (MG) failing current thera...
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy [0.03%]
Stephany El-Hayek,Aboulfazl Rad,Sahar Sedighzadeh et al.
Stephany El-Hayek et al.
Autosomal recessive Limb-Girdle Muscular Dystrophy type R28 (LGMDR28; OMIM #620375) is one of the most recently identified subtypes of recessive LGMD. To date, 17 affected individuals from eight unrelated families have been reported to harb...
Semi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies [0.03%]
肌营养不良磁共振半定量分析在早期自身免疫性肌病中的模式识别价值
Yana Leven,Suam Kim,Antoine Sanner et al.
Yana Leven et al.
Background: Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by skeletal muscle inflammation. Magnetic resonance imaging (MRI) is increasingly used in IIM diagnosis, yet standardiz...
Sirolimus for the treatment of steroid-refractory hepatotoxicity following AAV gene therapy in patients with Duchenne muscular dystrophy [0.03%]
他克莫司治疗杜氏肌营养不良症患者AAV基因治疗后糖皮质激素难治性肝毒性
Carmen Leon-Astudillo,Stephanie M Salabarria,Christina B Chadwick et al.
Carmen Leon-Astudillo et al.
Background: Adeno-associated virus (AAV)-mediated gene therapy with delandistrogene moxeparvovec-rokl (Elevidys®) is an approved treatment for patients with Duchenne muscular dystrophy (DMD). While generally well tolerat...
Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review [0.03%]
神经肌肉疾病中的性健康：系统评价揭示的被忽视的问题
Audrey El Kaïm,Marjorie Banos,Valérie Decostre et al.
Audrey El Kaïm et al.
Background: Neuromuscular diseases (NMDs) are heterogeneous disorders causing progressive motor decline, multisystem complications, and reduced quality of life. Sexual health, a key component of well-being, remains largel...
Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI [0.03%]
SMA I患者唇和舌肌力的损伤：使用IOPI的多中心前瞻性研究结果
Charlotte Colot,Federica Trucco,Pablo Ruiz Chicaiza et al.
Charlotte Colot et al.
Background: Spinal muscular atrophy (SMA) is a genetic neuromuscular disease characterized by muscular atrophy and respiratory and bulbar dysfunction, especially in the most severe phenotypes (SMA type 0 and 1). Swallowin...
Clinical evaluation of ThecaFlex DRx, a novel implantable catheter-port for intrathecal nusinersen delivery in spinal muscular atrophy: Initial results from the PIERRE-IDE study [0.03%]
PIERRE-IDE研究中新型鞘内给药导管ポートThecaFlex DRx在脊髓性肌萎缩症患者体内植入的应用初期临床评估结果
Ignacio Mesina-Estarrón,Michael Abruzzo,Fernando Cotrim Gomes et al.
Ignacio Mesina-Estarrón et al.
Background: Administration of Nusinersen requires repeated lumbar intrathecal access, posing challenges for patients with Spinal Muscular Atrophy (SMA). A purpose-built system may streamline drug delivery. ...