Vern C Juel
Vern C Juel
Objective: This article reviews the diagnosis and management of autoimmune myasthenia gravis (MG), encompassing epidemiology, clinical features including disease heterogeneity, pathophysiology, and therapeutic approaches....
Teerin Liewluck
Teerin Liewluck
Objective: This article reviews the current classification system, common subtypes, differential diagnosis, diagnostic algorithms, current management strategies, and evolving therapeutic areas for limb-girdle muscular dys...
Renatta N Knox
Renatta N Knox
Objective: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy, affecting individuals across the lifespan with variable severity. This article provides an overview of the di...
Mohammad Kian Salajegheh,Anthony A Amato
Mohammad Kian Salajegheh
Objective: This article describes the various idiopathic inflammatory myopathies, including their clinical presentation, pathogenesis, diagnosis, and treatments. While many disorders fall under this umbrella, this article...
Douglas J Gelb,Nuri Jacoby
Douglas J Gelb
Inclusion Body Myositis [0.03%]
肌包涵体肌炎
Elie Naddaf
Elie Naddaf
Objective: This article addresses the clinical presentation, diagnostic workup, and management of patients with inclusion body myositis (IBM). It also provides an overview of the clinical trial landscape and explores futu...
Safety, Costs, and Ethical Issues in Drug Development and Gene Therapy for Rare Diseases [0.03%]
罕见病药物研发及基因治疗中的安全性、成本与伦理问题
Nicholas Johnson,A Gordon Smith
Nicholas Johnson
Scientific advances have provided the ability to modify the course of genetic diseases through the use of genetic therapies. These therapies include RNA-based approaches that either reduce the translation of a toxic protein or skip exons to...
Dystrophinopathies [0.03%]
杜氏肌营养不良症
Divya Jayaraman,Partha S Ghosh
Divya Jayaraman
Objective: This article provides an overview of the dystrophinopathies, which are primary muscle disorders inherited in an X-linked recessive fashion due to pathogenic variants in DMD on chromosome Xp21 encoding the prote...