Dysautonomia as the Presenting Symptom in Anti-Muscle-Specific Kinase Antibody Myasthenia Gravis [0.03%]
抗肌肉特异性激酶抗体重症肌无力的首发症状自主神经功能紊乱
T J S Bekooij,H J Gilhuis,L Dawson et al.
T J S Bekooij et al.
In an minority of Myasthenia Gravis (MG) patients, the autoantibodies bind to muscle-specific kinase (MUSK). These MuSK antibody-mediated MG (MuSK MG) patients are not only immunologically distinct, but also have different characteristic cl...
S M Salabarria,J Nair,N Clement et al.
S M Salabarria et al.
Pompe disease (glycogen storage disease type II) is caused by mutations in acid α-glucosidase (GAA) resulting in lysosomal pathology and impairment of the muscular and cardio-pulmonary systems. Enzyme replacement therapy (ERT), the only ap...
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy [0.03%]
与新生的11q13.2q14.1重复相关的肌肉，眼部和脑部异常：对肌营养不良伴眼肌先天性肌营养不良的鉴别诊断的贡献
Rocío N Villar-Quiles,Marta Gomez-Garcia de la Banda,Annie Barois et al.
Rocío N Villar-Quiles et al.
Muscular weakness and hypotonia may be associated with multisystem involvement giving rise to complex phenotypes, many of which are uncharacterized. We report a patient presenting with congenital hypotonia and severe ocular and brain abnorm...
Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance [0.03%]
弗里德赖希共济病的病例系列及心血管磁共振成像的附加价值研究
Sophie Mavrogeni,Aikaterini Giannakopoulou,Marina Katsalouli et al.
Sophie Mavrogeni et al.
BackgroundFriedreich's ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, hi...
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1 [0.03%]
Nusinersen治疗——关于I型脊髓性肌萎缩症患儿适应证的挑战
Astrid Pechmann,Matthias Baumann,Günther Bernert et al.
Astrid Pechmann et al.
The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transf...
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care [0.03%]
脊髓性肌萎缩症治疗进展-新表型、新挑战及对护理的新影响
David C Schorling,Astrid Pechmann,Janbernd Kirschner
David C Schorling
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory failure dur...
Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort [0.03%]
脊髓肌肉萎缩症(SMA)亚型在兄弟姐妹间的符合情况：来自“治愈脊髓性肌肉萎缩症”队列的结果
Cynthia C Jones,Suzanne F Cook,Jill Jarecki et al.
Cynthia C Jones et al.
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (SMN1) gene disruption. Despite a genetic etiology, little is known about subtype ...
Low Appendicular Lean Mass Index and Associations with Metabolic and Demographic Parameters in Wheelchair Athletes with Spinal Cord Injury [0.03%]
轮椅脊髓损伤运动员较低的四肢瘦体重指数及其与代谢和人口统计学参数的关系
Shirley Steffany Muñoz Fernndez,Sandra Maria Lima Ribeiro
Shirley Steffany Muñoz Fernndez
Background: People suffering from spinal cord injury (SCI) undergo metabolic and physical disturbances that target the skeletal muscle, causing a progressive loss of muscle mass. ...
Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1 [0.03%]
贝美纳治疗携带ROS1重排突变非小细胞肺癌患者的疗效和安全性：I期和II期临床研究结果
Go Kurauchi,Makiko Endo,Kaori Odaira et al.
Go Kurauchi et al.
Background: Multi-systemic symptoms of varying severity in myotonic dystrophy type 1 (DM1) may pose difficulties in caregiving. However, the factors which affect their care burden are yet to be sufficiently understood. ...