Dr. Allcock discusses his work in analysing all genes involved in neuromuscular/neurogenetic diseases (approximately 350 genes) in a laboratory, which spans pure basic research activities, clinical research and routine sequencing.
NGS Ion AmpliSeq™ Gene Panels For Neuromuscular Disease Research
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Myasthenia gravis (MG) is an autoimmune disorder where antibodies disrupt the neuromuscular junction, causing muscle weakness that worsens with activity. MG subgroups are based on muscle weakness location, age, antibody type, and thymus pathology, with some patients experiencing severe, treatment-resistant symptoms. Biomarkers can indicate prognosis. First-line treatments include pyridostigmine for symptomatic relief and immunosuppressants like prednisolone and azathioprine. Thymectomy is recommended for certain patients. Second-line treatments include mycophenolate, rituximab, and others, with new therapies like complement and FcRn inhibitors showing promise. Intravenous immunoglobulin and plasma exchange are used for acute exacerbations. Supportive therapy, including adapted exercise, is crucial. In refractory cases, comorbidities and diagnosis accuracy should be reconsidered.
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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, ...
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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 ...
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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, ...
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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 ...
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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 ...
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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. ...
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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 ...
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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 ...
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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 ...
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Corticosteroids can improve muscle function in boys with Duchenne muscular dystrophy and are commonly prescribed for newly diagnosed patients. Dr Michela Guglieri (Newcastle University, Newcastle upon Tyne, United Kingdom) discusses a randomized, double-blind, parallel-group clinical trial investigating comparative safety and ...
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Corticosteroids can improve muscle function in boys with Duchenne muscular dystrophy and are commonly prescribed for newly diagnosed patients. Dr Michela Guglieri (Newcastle University, Newcastle upon Tyne, United Kingdom) discusses the current unmet needs in DMD, and the role of ...
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