Neuromuscular Diseases

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 […]

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 […]

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 […]

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 […]