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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: 20 April 2026 | Viewed by 3729

Special Issue Editor

Prof. Dr. Dimitrios Kanakis

E-Mail Website
Guest Editor
Pathology, University of Nicosia Medical School, Nicosia, Cyprus
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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Published Papers (3 papers)

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Research

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17 pages, 2448 KB  
Article
Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity
by Giorgia D’Este, Alejandro Giorgetti, Denise Cassandrini, Francesca Magri, Dario Ronchi, Anna Rubegni, Diego Lopergolo, Alessandro Malandrini, Luciano Merlini, Gaetano Vattemi, Paola Tonin and Rita Barresi
Int. J. Mol. Sci. 2025, 26(23), 11384; https://doi.org/10.3390/ijms262311384 - 25 Nov 2025
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Abstract
Limb-Girdle Muscular Dystrophies (LGMDs) are genetically heterogeneous disorders primarily affecting proximal limb muscles. The most common form, LGMDR1, results from biallelic CAPN3 mutations encoding calpain-3, a muscle-specific protease. Recently, growing evidence implicates heterozygous CAPN3 variants in autosomal dominant disease (LGMDD4), with pathogenic mechanisms [...] Read more.
Limb-Girdle Muscular Dystrophies (LGMDs) are genetically heterogeneous disorders primarily affecting proximal limb muscles. The most common form, LGMDR1, results from biallelic CAPN3 mutations encoding calpain-3, a muscle-specific protease. Recently, growing evidence implicates heterozygous CAPN3 variants in autosomal dominant disease (LGMDD4), with pathogenic mechanisms still incompletely understood. In a retrospective multicenter Italian study of patients harboring monoallelic CAPN3 variants (ClinicalTrials.gov NCT05956132), the p.Asp753Asn substitution was the most frequent change, detected in eight unrelated individuals. These patients, aged 6–80 years, exhibited a spectrum of presentations ranging from asymptomatic hyperCKemia and exertional myalgia to mild proximal weakness. Muscle biopsies showed mild, nonspecific myopathic changes, while calpain-3 expression was variably reduced. Structural modeling suggested that Asp753 may stabilize the Ca2+-bound conformation, with substitution potentially disrupting inter-domain interactions. Literature review identified 31 additional reports worldwide, confirming recurrence while highlighting marked phenotypic heterogeneity and limited clinical annotation. The aggregated evidence supports a pathogenic role for p.Asp753Asn, though the precise mechanism, potentially involving a dominant-negative effect, remains to be validated. These findings emphasize diagnostic challenges posed by single CAPN3 variants and underscore the need for integrated clinical, segregation, and functional studies to clarify pathogenic mechanisms, refine counseling, and guide patient-specific rehabilitation and therapeutic strategies. Full article
(This article belongs to the Special Issue New Insights and Discoveries in the Pathogenesis, Diagnosis and Therapy of Neuromuscular Diseases)
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20 pages, 2187 KB  
Article
Comparative Transcriptomic Profiling in Patients Affected by Duchenne and Becker Muscular Dystrophies: A Focus on ECM Genes Dysregulation
by Bartolo Rizzo, Francesca Dragoni, Maria Irene Dainesi, Rosalinda Di Gerlando, Evelyne Minucchi, Angela Lucia Berardinelli and Stella Gagliardi
Int. J. Mol. Sci. 2025, 26(14), 6594; https://doi.org/10.3390/ijms26146594 - 9 Jul 2025
Viewed by 2666
Abstract
The complexity of RNA metabolism has become crucial in neuromuscular diseases, especially for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our goal was to search for possible pathways that differ between the two diseases, in which DMD develops a severe phenotype [...] Read more.
The complexity of RNA metabolism has become crucial in neuromuscular diseases, especially for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our goal was to search for possible pathways that differ between the two diseases, in which DMD develops a severe phenotype compared to BMD. In this work, we aimed to evaluate the transcriptomic profile in skeletal muscle biopsies derived from patients with either DMD or BMD. We collected RNA obtained from pediatric patients with DMD (n = 12) and with BMD (n = 6). Compared to patients with BMD, patients with DMD showed a particular activation of genes involved in collagen synthesis, extracellular matrix organization, and Oncostatin M-dependent pathways, important for fibrotic processes. This suggests that a more severe phenotype in patients with DMD compared to those with BMD may be due to greater deregulation of these pathways, reflecting the clinical picture of patients observed. Our results allowed us to highlight the molecular differences between the two phenotypic groups, shedding light on the pathways that make Duchenne dystrophy more severe than its counterpart does. This study provides preliminary insights into the difference in gene expression between the two groups and lays the basis for the identification of possible mechanisms that differentiate between the two diseases. Full article
(This article belongs to the Special Issue New Insights and Discoveries in the Pathogenesis, Diagnosis and Therapy of Neuromuscular Diseases)
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Review

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34 pages, 3520 KB  
Review
Autoimmune Neuromuscular Disorders at a Molecular Crossroad: Linking Pathogenesis to Targeted Immunotherapy
by Anca-Maria Florea, Dimela-Gabriela Luca, Eugenia Irene Davidescu and Bogdan-Ovidiu Popescu
Int. J. Mol. Sci. 2025, 26(23), 11736; https://doi.org/10.3390/ijms262311736 - 4 Dec 2025
Viewed by 303
Abstract
Myasthenia gravis, chronic inflammatory demyelinating polyneuropathy, and idiopathic inflammatory myopathies are among the most widely recognized autoimmune neuromuscular disorders. Although they differ in clinical presentation, shared immunopathogenic mechanisms place them at a molecular crossroads. Evidence of overlapping pathways has led to the development [...] Read more.
Myasthenia gravis, chronic inflammatory demyelinating polyneuropathy, and idiopathic inflammatory myopathies are among the most widely recognized autoimmune neuromuscular disorders. Although they differ in clinical presentation, shared immunopathogenic mechanisms place them at a molecular crossroads. Evidence of overlapping pathways has led to the development of targeted strategies including complement inhibition, FcRn antagonism, B-cell depletion, and the CAR-T cell approach. In this review, we analyze current knowledge regarding pathogenic mechanisms and their link to immunotherapy, extensively outlining both similarities and distinctions. We further discuss existing challenges, including diagnostic limitations and refractory disease variants, how technological advances have already addressed some of these issues, and where further progress is still needed. Full article
(This article belongs to the Special Issue New Insights and Discoveries in the Pathogenesis, Diagnosis and Therapy of Neuromuscular Diseases)
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