New Insights and Discoveries in the Pathogenesis, Diagnosis and Therapy of Neuromuscular Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: 31 October 2025 | Viewed by 161
Special Issue Editor
Interests: neurooncology; neurodegenerative diseases; traumatic brain injury/chronic traumatic encephalopathy; demyelinating diseases; neurodevelopmental disorders; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
It is well known that neuromuscular diseases (NMDs) encompass a broad spectrum of disorders affecting the motor neurons, peripheral nerves, neuromuscular junctions, and muscles. In recent years, several discoveries have significantly advanced our understanding of their pathogenesis. Genetic studies, including next-generation sequencing, have identified novel mutations and mechanisms underlying some of the common neuromuscular disorders (e.g., Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA)). Key pathogenic pathways have been implicated in their initiation and development, including impaired autophagy, mitochondrial dysfunction, abnormal protein aggregation, and the dysregulation of calcium signaling. In addition, inflammatory and immune-mediated mechanisms are increasingly being recognized, particularly in myositis and some neuropathies. Currently, diagnostic approaches have improved substantially with the integration of molecular genetics, high-resolution imaging, and blood-based biomarkers, enabling earlier and more precise diagnoses. Therapeutic strategies have evolved from supportive care to targeted molecular interventions. In this context, gene therapies for SMA and exon-skipping therapies for DMD have demonstrated transformative outcomes. Additionally, antisense oligonucleotides, monoclonal antibodies, and small-molecule therapies are under active development. Advances in stem cell research and regenerative medicine also hold potential for future treatment options. The aim of this Special Issue is to collect and present new insights and discoveries related to pathogenesis, diagnosis, and treatment in neuromuscular diseases. Therefore, we invite researchers from all relevant fields to participate in this initiative and contribute original research or review articles.
Prof. Dr. Dimitrios Kanakis
Guest Editor
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Keywords
- neuromuscular diseases
- autophagy
- mitochondrial dysfunction
- molecular genetics
- blood-based biomarkers
- antisense oligonucleotides
- monoclonal antibodies
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