Neuromuscular Diseases

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.

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 […]

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 […]

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 […]

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 […]