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
Updates in the Use of Vamorolone and Steroids in the Treatment of Duchenne Muscular Dystrophy
touchREVIEWS in Neurology. 2023;19(2):7-9
Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1 with an incidence of 21.4 patients in 100,000 live male births worldwide.2,3 Historically, patients with DMD would lose ambulation by the age of 10 due to muscle weakness and die by the age of 20 from respiratory failure […]
The complement system in NMOSD and MG: A target for therapeutic benefit?
Watch specialists in neurological disorders share their insights on the role of complement and complement therapeutics in patients with neuromyelitis optica spectrum disorder (NMOSD) and myasthenia gravis (MG).
- Describe the role of complement in the pathophysiology of NMOSD and MG
- Evaluate markers of complement activation as diagnostic and prognostic biomarkers in NMOSD and MG
- Discuss recently approved and experimental inhibitors of the complement system for the treatment of NMOSD and MG
Anthony Béhin, EAN 2023: Highlights in myasthenia gravis
Dr Anthony Béhin (University Hospitals Pitié Salpêtrière, Paris, France) discusses highlights from the annual European Academy of Neurology (EAN), July 1–4, 2023, in the field of myasthenia gravis. Disclosures: Anthony Béhin is a consultant for Alexion, Argenx, UCB, Sanofi and Ultragenyx pharmaceutical. He has received grant/research support from the Association Institut de Myologie and is on the […]
Luca Leonardi, EAN 2023: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis
Dr Luca Leonardi (Sapienza University of Rome, Italy) summarizes the take-home messages from his study assessing skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a treatable disease. The abstract ‘EJoN: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary […]
Sabrina Sacconi, EAN 2023: The MycarinG study – rozanolixizumab in the treatment of muscle-specific kinase autoantibody-positive myasthenia gravis
Muscle-specific kinase autoantibody-positive (MuSK-Ab+) generalised myasthenia gravis (gMG) is usually more clinically severe than acetylcholine receptor autoantibody-positive (AChR-Ab+) gMG. The Phase 3 MycarinG study analysed rozanolixizumab in patients with AChR-Ab+ or MuSKAb+ gMG. Dr Sabrina Sacconi (Côte d’Azur University, Nice, France) summarizes the take-home messages from her presentation of the results of the study. The […]
Sabrina Sacconi, EAN 2023: Highlights in myasthenia gravis
Dr Sabrina Sacconi (Côte d’Azur University, Nice, France) summarizes her top 3 highlights from the annual European Academy of Neurology (EAN), July 1–4, 2023 in the field of myasthenia gravis, an area with significant unmet needs for treatment options. It is an exciting time for research in this area, with a number of important clinical trials […]
Highlights from EAN 2023!
World Congress on Controversies in Neurology (CONy): Presidential highlights, Amos D. Korczyn
The 17th World Congress on Controversies in Neurology (CONy) took place March 23-25 2023 in Dubrovnik, Croatia. Prof. Amos D. Korczyn, CONy President (University of Tel-Aviv, Tel-Aviv, Israel) joined touchNEUROLOGY to discuss the main aims and focus of the recent CONy meeting, the unique debate presentation style, and the most exciting debates, topics and highlights […]
LGMDR1 with Prominent Limb–Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report
touchREVIEWS in Neurology. 2023;19(1): DOI: https://doi.org/10.17925/USN.2023.19.1.46
Highlights Limb–joint contractures may represent an important clinical clue of muscle dystrophies, as they limit the spectrum of the diagnosis assumptions. Limb–girdle muscular dystrophies phenotype can rarely be a clinical presentation of retractile myopathies, except for non-specific Achilles tendon tightness. Anti-PM/Scl antibody screening using line-blot assays and commercial antibody–panel testing is likely to detect false-positive antibodies. Dysferlinopathies, calpainopathy and facioscapulohumeral muscular dystrophy are the conditions most frequently confused […]