An Introduction to Neuromuscular Diseases
Neuromuscular diseases, characterized by muscle weakness, encompass a broad range of conditions that impair the function of voluntary muscles e.g. amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), myasthenia gravis and spinal muscular atrophy (SMA). The treatment landscape for neuromuscular diseases has seen numerous developments. Patients with SMA have had access to a range of new therapies including novel SMN-targeted treatments, antisense oligonucleotides and virus-mediated gene therapy. Likewise for patients with MS, with the introduction of new disease-modifying agents.
Browse video highlights and short articles from the conference hub, providing insights into the latest updates from major conferences and peer-reviewed articles from the journal portfolio. This is complimented by a range of educational activities from our expert faculty, with patient outcomes at the forefront.
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Neuromuscular Diseases Content
Hirayama Disease: Review on Pathophysiology, Clinical Features, Diagnosis and Treatment
touchREVIEWS in Neurology. 2022;18(2):109–16 DOI: https://doi.org/10.17925/USN.2022.18.2.109
Hirayama disease (HD) is a lower motor neurologic disorder that manifests in young males in their early 20s, manifesting with gradually progressive weakness and wasting of C7-T1 innervated muscles. Dynamic magnetic resonance imaging (MRI) clinches the diagnosis, and treatment is mainly supportive using a cervical brace, and in refractory cases, surgical. This review aims to […]
Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec
touchREVIEWS in Neurology. 2022;18(2): 133-41 DOI: https://doi.org/10.17925/USN.2022.18.2.133
Background for molecular-based therapy for spinal muscular atrophy Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the most common cause of infant death worldwide, with an incidence of 1:10,000 live births and carrier frequency of 1:50.1 This disease, caused by degeneration of spinal and bulbar motor neurons, is characterized by progressive muscle […]
Efgartigimod: A First-in-class Investigational Antibody Fragment for the Treatment of Generalized Myasthenia Gravis
touchREVIEWS in Neurology. 2022;18(2): 127-32 DOI: https://doi.org/10.17925/USN.2022.18.2.127
Myasthenia gravis (MG) represents the major and most frequent primary disorder of the neuromuscular junction. Clinical hallmarks are variable and include exercise-induced weakness involving extraocular, bulbar, limb and/or axial muscles.1 Respiratory involvement, characterized by orthopnoea or dyspnoea with exertion, occurs in about 40% of patients with MG and is often associated with bulbar dysfunction and neck […]
Francesco Saccà, EAN 2022: Improving quality of life for patients with generalized myasthenia gravis – ADAPT trial findings
The ADAPT trial (NCT03669588) supported US Food and Drug Administration approval of efgartigimod alfa-fcab in generalized myasthenia gravis. Dr Francesco Saccà (University of Naples Federico II, Naples, Italy) discussed the findings of the study, in terms of health-related quality-of-life outcomes. Questions: 1. What are the current challenges in managing cases of generalized myasthenia gravis? (00:14) […]
Foreword – touchREVIEWS in Neurology, Volume 18, Issue 1, 2022
Welcome to the latest edition of touchREVIEWS in Neurology, which features a diverse range of topical articles covering therapeutic areas relevant to neurologists and other practitioners involved in the care of patients with neurological illness. We begin with an editorial from Tian Wang and Gregory L Krauss, discussing XEN1101, a novel potassium channel modulator, in the […]
James Howard AAN 2022: Ravulizumab for adults with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis – Results from the phase 3 CHAMPION-MG OLE trial
Ravulizumab has recently been approved by in the US for the treatment of adults with anti-acetylcholine receptor antibody-positive (AChR Ab+) generalized myasthenia gravis (gMG). Prof. James Howard (The University of North Carolina at Chapel Hill, NC, USA) kindly joins touchNEUROLOGY to discuss the phase 3 CHAMPION-MG trial open label extension study that evaluated the efficacy and […]
James Howard, AAN 2022: Unmet needs in the treatment of myasthenia gravis
Myasthenia gravis (MG) is a rare autoimmune disorder caused by antibodies that act against the myoneural junction, resulting in weakness of the skeletal muscles. Prof. James Howard (The University of North Carolina at Chapel Hill, CA, USA) discusses the unmet needs in the treatment of this rare disease, including, quality of life of patients, response to […]
Tuan Vu, AAN 2022: Ravulizumab for adults with anti-acetylcholine receptor antibody-positive generalized myasthenia gravis – Results from the phase 3 CHAMPION-MG trial
Ravulizumab has recently been approved by in the US for the treatment of adults with anti-acetylcholine receptor antibody-positive (AChR Ab+) generalized myasthenia gravis (gMG). Prof. Tuan Vu kindly joins touchNEUROLOGY to discuss the phase 3 CHAMPION-MG trial that evaluated the efficacy and safety of ravulizumab, a potent terminal complement C5 inhibitor, in AChR Ab+ gMG. […]
Considerations for the selection of disease-modifying treatments in SMA: A case-based discussion
Three SMA experts use patient case studies to discuss factors influencing treatment decision-making with approved SMA therapies.
- Recall the licensed indications for available disease-modifying therapies for SMA
- Discuss factors which may impact treatment selection for individual patients with SMA
- Summarize benefit–risk profiles for approved treatments with respect to different SMA phenotypes at the time of diagnosis and into the future
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