Updates on Neuromuscular Diseases
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".
Deadline for manuscript submissions: 20 August 2026
Special Issue Editor
2. Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel
Interests: neuromuscualr disorders; myopathies; neuropathies; neuromuscualr junction disorders
Special Issue Information
Dear Colleagues,
The field of neuromuscular diseases has entered a transformative era, transitioning from predominantly palliative care to a proactive, disease-modifying paradigm. Major scientific advances, including gene replacement therapies, antisense oligonucleotides, FcRn inhibitors, and other disease-modifying treatments, have substantially altered the therapeutic landscape for conditions such as spinal muscular atrophy (SMA), Duchenne muscular dystrophy, and amyotrophic lateral sclerosis (ALS). Notably, the first intrathecal gene therapy for older children and adults with SMA has received regulatory approval, and a recent breakthrough with a myostatin-targeting antibody has demonstrated significant improvements in muscle mass and strength in SMA patients. Parallel progress has occurred in diagnostics. The identification of specific nodal and paranodal antibodies has enabled recognition of rare subtypes of inflammatory neuropathies that were previously misdiagnosed as conventional CIDP. Neurofilament light chain, once confined to research settings, has emerged as a reliable clinical biomarker of axonal damage. In addition, comprehensive gene panels testing hundreds of neuromuscular-related genes have replaced the traditional “one-gene-at-a-time” approach. The adoption of long-read sequencing technologies allows accurate detection and quantification of pathogenic repeat expansions in disorders such as myotonic dystrophy and spinocerebellar ataxias. In this Special Issue, we invite authors to submit original research and reviews addressing these and other advances in the diagnosis and treatment of neuromuscular diseases.
Prof. Dr. Menachem Sadeh
Guest Editor
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Keywords
- neuromuscualr disorders
- myopathies
- neuropathies
- neuromuscualr junction disorders
- neurogenetics
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