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Brain Sciences
Special Issues
Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders
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Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Sensory and Motor Neuroscience".

Deadline for manuscript submissions: 15 October 2025 | Viewed by 10196

Special Issue Editors

Dr. Vincenzo Di Stefano

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Guest Editor
Department of Biomedicine, Neuroscience and advanced Diagnostics (BIND), University of Palermo, Via del Vespro 143, 90129 Palermo, Italy
Interests: neuromuscular disease; neuroimmunology; neurogenetics; myasthenia gravis; ATTRv amyloidosis; clinical neurophysiology
Special Issues, Collections and Topics in MDPI journals
Dr. Claudia Vinciguerra

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Guest Editor
Neurology Unit, Department of Medicine, Surgery and Dentistry “Scuola Medica Salernitana”, University of Salerno, 84131 Salerno, Italy
Interests: neuromuscular disorders; electromiography/evoked potential; clinical neurophysiology; myasthenia gravis; music therapy; rare disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Background and History of this topic: Neuromuscular disorders (NMDs) comprise a large group of diseases affecting the peripheral nervous system, characterized by muscles, peripheral nerves, and neuromuscular junction. Progressive muscle weakness is the predominant condition in these disorders, often associated and depending on the specific involved system, with alterations in sensitivity, fatigue, and muscle atrophy, with a variable progression over time.

The diagnosis is often complex, as many of these are rare pathologies which require multidisciplinary support at dedicated centers, often representing a challenge for the clinician.

Good knowledge of the natural history of each NMD is essential in ensuring an optimal timing of the therapeutic interventions, which must be performed under the best possible conditions in these usually frail patients. Many of these disorders are treatable if the treatment is initiated early and appropriately. In recent decades, the prognosis of a wide spectrum of NMDs has significantly improved, thanks to the advent of new disease modify therapies. Several treatments have been employed, ranging from corticosteroids and intravenous immunoglobulins to immunosuppressive and targeted therapies, particularly in autoimmune NMDs like Myasthenia gravis and CIDP. Additionally, genetic enzymatic therapies have emerged for certain inherited metabolic myopathies, like Pompe disease. These diverse interventions underscore the necessity of a multidisciplinary approach in treatments.

Aim and Scope

To provide a comprehensive overview of recent developments in the diagnostic, prognostic, and therapeutic realms of NMDs.

Cutting-edge research: We welcome manuscripts focusing on the diagnosis and management of specific forms of neuromuscular diseases. Research exploring the necessity for novel diagnostic biomarkers, such as muscle magnetic resonance imaging and nerve ultrasound, is of particular interest. Additionally, studies investigating immunomodulatory therapies, including monoclonal antibodies, and the role of physical and cognitive rehabilitation in patient care are encouraged. Rare and complex clinical cases that shed light on unique challenges and treatment strategies are also valued contributions.

What kind of papers we are soliciting: Original articles, systematic reviews, and case reports that advance our understanding and management of neuromuscular disorders.

Dr. Vincenzo Di Stefano
Dr. Claudia Vinciguerra
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neuromuscular disorders
  • neurogenetics
  • neuroimmunology
  • polyneuropathy
  • myopathy
  • neuromuscular junction disease
  • diagnosis
  • prognosis
  • treatment
  • rehabilitation

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Published Papers (5 papers)

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Research

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11 pages, 588 KB  
Article
Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights
by Anna Annunziata, Francesca Simioli, Giorgio Emanuele Polistina, Anna Michela Gaeta, Maria Cardone, Camilla Di Somma, Raffaella Manzo, Antonella Marotta, Cecilia Calabrese and Giuseppe Fiorentino
Brain Sci. 2025, 15(9), 968; https://doi.org/10.3390/brainsci15090968 - 6 Sep 2025
Viewed by 540
Abstract
Introduction: Myotonic dystrophies (DM) are progressive genetic disorders with multisystemic involvement, particularly affecting the muscular, respiratory, and neuropsychological systems. Myotonic dystrophy type 1 (DM1), or Steinert’s disease, may lead to severe respiratory complications, including sleep-disordered breathing and hypercapnia, often requiring noninvasive ventilation to [...] Read more.
Introduction: Myotonic dystrophies (DM) are progressive genetic disorders with multisystemic involvement, particularly affecting the muscular, respiratory, and neuropsychological systems. Myotonic dystrophy type 1 (DM1), or Steinert’s disease, may lead to severe respiratory complications, including sleep-disordered breathing and hypercapnia, often requiring noninvasive ventilation to manage respiratory failure. However, adherence to NIV remains a major challenge, often influenced by cognitive and psychological factors such as apathy and depression. This study aims to investigate the presence of depression and SDB in patients with DM1 initiating NIV, and to evaluate factors influencing adherence to ventilatory support. Materials and Methods: We selected 13 adult patients (≥18 years) with diagnosis of Steinert’s disease with respiratory impairment who needed to start respiratory support. Dysphagia was assessed in all patients at baseline by a videofluoroscopic swallow study. Beck’s Depression Inventory II was administered for measuring the severity of depression. The Montreal Cognitive Assessment was used as a screening tool to detect signs of neurocognitive disorders. We evaluated adherence to NIV. Results: The study population presented with sleep-disordered breathing, as indicated by a median apnea–hypopnea index (AHI) of 24 events per hour (IQR: 14.2–34.5) and an oxygen desaturation index (ODI) of 25 events per hour (IQR: 18–33). Adherence to NIV was obtained in seven patients. No difference in baseline lung function was observed. Adherent subjects had moderate hypercapnia at baseline; pCO2 was 52 vs. 49 mmHg. Non-adherent patients showed a higher prevalence of depression with a median BDI-II score of 18 vs. 6 in adherent patients. The findings highlight that psychological factors, especially depression, play a crucial role in adherence to NIV. Interestingly, depression was not linked to initial respiratory measurements but showed a significant association with nocturnal oxygen desaturation. This suggests that relying solely on clinical and respiratory assessments may not be adequate to predict or improve treatment adherence. Conclusions: Incorporating psychological evaluations and addressing mental health issues, such as depression, are essential steps to enhance NIV compliance and overall DM1 patient outcomes. A multidisciplinary approach combining respiratory and psycho-emotional interventions is crucial for effective disease management. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders)
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11 pages, 476 KB  
Article
Does Lumbar Puncture Still Have Clinical Value for Patients with Amyotrophic Lateral Sclerosis?
by Federica Ginanneschi, Stefania Casali, Chiara Cioni, Delia Righi, Emanuele Emmanuello, Cecilia Toccaceli, Domenico Plantone and Nicola De Stefano
Brain Sci. 2025, 15(3), 258; https://doi.org/10.3390/brainsci15030258 - 27 Feb 2025
Viewed by 1149
Abstract
Background: The relationship between routine cerebrospinal fluid (CSF) testing and clinical and prognostic data in amyotrophic lateral sclerosis (ALS) remains unclear. Additionally, biochemical data have never been correlated with markers of neurodegeneration. The purpose of this study is to determine whether lumbar puncture [...] Read more.
Background: The relationship between routine cerebrospinal fluid (CSF) testing and clinical and prognostic data in amyotrophic lateral sclerosis (ALS) remains unclear. Additionally, biochemical data have never been correlated with markers of neurodegeneration. The purpose of this study is to determine whether lumbar puncture may still have clinical utility in ALS. Methods: We collected the CSF profiles of 140 ALS subjects. CSF protein, albumin, IgG, IgG index, albumin quotient (QAlb), t-tau, p-tau, and Aβ42 were analyzed. Results: Approximately one-quarter of ALS patients had elevated levels of protein, albumin, and QAlb in the CSF, but these were not associated with clinical or survival data. Among the neurodegeneration markers, the percentage of patients with abnormal values ranged from 26.3% to 35.4%. The p-tau/t-tau ratio and Aβ42 were correlated with both the ALS progression rate and the time from diagnosis to death. Aβ42 was the prognostic marker most strongly associated with survival. Conclusions: The lack of correlation between biochemical CSF findings and the clinical and/or prognostic status of ALS suggests that these markers have no clinical value. However, neurodegeneration markers that are easily measurable in clinical laboratories, particularly Aβ42, may be useful at the time of diagnosis for predicting ALS survival and progression rate. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders)
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11 pages, 1695 KB  
Article
Effectiveness and Safety of Mycophenolate Mophetil in Myasthenia Gravis: A Real-Life Multicenter Experience
by Claudia Vinciguerra, Anna D’Amico, Liliana Bevilacqua, Nicasio Rini, Maria D’Apolito, Eliana Liberatoscioli, Roberto Monastero, Paolo Barone, Filippo Brighina, Antonio Di Muzio and Vincenzo Di Stefano
Brain Sci. 2024, 14(8), 774; https://doi.org/10.3390/brainsci14080774 - 31 Jul 2024
Cited by 1 | Viewed by 4469
Abstract
Background: Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness due to autoantibodies targeting neuromuscular junction proteins. Mycophenolate mofetil (MMF), an immunosuppressive therapy, has shown potential for managing MG with fewer side effects compared to other treatments. This study aims [...] Read more.
Background: Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness due to autoantibodies targeting neuromuscular junction proteins. Mycophenolate mofetil (MMF), an immunosuppressive therapy, has shown potential for managing MG with fewer side effects compared to other treatments. This study aims to evaluate the effectiveness and safety of MMF in MG patients in a real-life multicenter setting. Methods: A retrospective cohort study was conducted on generalized MG patients, refractory to azathioprine (AZA) and treated with MMF alone or with steroids, at three Italian centers from January 2011 to February 2024. Patients were assessed using the Myasthenia Gravis Foundation of America (MGFA) classification, MG composite score (MGCS), and MG activity of daily living (MGADL) scores at baseline, 6, 12, 18, and 24 months. Statistical analyses included the Spearman correlation, the Friedman test, and ANOVA. Results: Thirty-two patients were enrolled (13 males, mean age 66.5 ± 11.5 years). Significant improvements in MGADL and MGCS scores were observed at 6 and 12 months (p < 0.001), with continued improvement over 24 months. Side effects were reported in 12% of patients. MMF showed a faster onset of symptom control compared to azathioprine, with a significant improvement noted within 6 months. Conclusions: A recent study found that MMF and AZA were equally effective in improving patients’ quality of life, but because AZA had more serious adverse events than MMF, lower doses of AZA were therefore recommended to reduce the adverse events while maintaining efficacy. Conversely, results showed that MMF is effective and well-tolerated in the long-term management of MG, providing faster symptom control and a favorable safety profile. Future prospective studies with larger cohorts are needed to confirm these findings and explore sex differences in response to MMF treatment. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders)
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Review

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34 pages, 1088 KB  
Review
Immunological Targets in Generalized Myasthenia Gravis Treatment: Where Are We Going Now?
by Elena Rossini, Luca Leonardi, Stefania Morino, Giovanni Antonini and Laura Fionda
Brain Sci. 2025, 15(9), 978; https://doi.org/10.3390/brainsci15090978 - 11 Sep 2025
Viewed by 1402
Abstract
Background: Generalized myasthenia gravis (gMG) is a heterogeneous autoimmune disorder marked by antibody-mediated disruption of neuromuscular transmission. Despite advancements in immunosuppressive therapies and biologics, a subset of patients remains refractory, necessitating more targeted and personalized treatment strategies. Objective: This review aims to synthesize [...] Read more.
Background: Generalized myasthenia gravis (gMG) is a heterogeneous autoimmune disorder marked by antibody-mediated disruption of neuromuscular transmission. Despite advancements in immunosuppressive therapies and biologics, a subset of patients remains refractory, necessitating more targeted and personalized treatment strategies. Objective: This review aims to synthesize current knowledge of the immunopathological mechanisms across gMG subtypes and to explore emerging therapeutic targets tailored to these diverse disease phenotypes. Methods: A narrative review was conducted, integrating recent findings from clinical trials, immunogenetic studies, and preclinical research to describe subtype-specific immune mechanisms and corresponding therapeutic innovations. Results: gMG subtypes—characterized by autoantibody profiles (AChR, MuSK, LRP4, or seronegative), thymic histopathology, and age of onset—demonstrate distinct immunological pathways. Early-onset MG is associated with thymic hyperplasia and Th17-driven inflammation; thymoma-associated MG involves central tolerance breakdown; late-onset MG shows immune senescence and altered T-cell regulation. MuSK- and LRP4-positive MG exhibit unique cytokine and antibody signatures. Novel therapeutic strategies include B cell- and T cell-targeted therapies (e.g., anti-CD19, anti-CD38, JAK inhibitors), cytokine inhibitors (IL-6, IL-17, IL-23), FcRn antagonists, complement inhibitors, and gene- or cell-based therapies such as CAR-T and CAAR-T cells. Conclusion: The evolving landscape of gMG treatment reflects a shift toward immunopathology-based precision medicine. Better characterization of subtype-specific molecular signatures and immune dysfunctions is essential to guide clinical decision-making and improve outcomes for treatment-refractory patients. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders)
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19 pages, 444 KB  
Review
Living with Duchenne Muscular Dystrophy Beyond the Physical Implications: Cognitive Features, Psychopathology Aspects, and Psychosocial Resources—A Narrative Review
by Federica Tizzoni, Giulia Canella, Antonella Delle Fave, Daniele Di Lernia, Maria Luisa Lorusso, Maria Nobile and Maria Grazia D’Angelo
Brain Sci. 2025, 15(7), 695; https://doi.org/10.3390/brainsci15070695 - 28 Jun 2025
Viewed by 1672
Abstract
Background/Objectives: Duchenne muscular dystrophy (DMD) is often discussed in the literature with regard to physical impairments. This narrative review aims to show that living with DMD involves psychological, psychosocial, and cognitive aspects in addition to the well-known physical complications. Methods: Firstly, [...] Read more.
Background/Objectives: Duchenne muscular dystrophy (DMD) is often discussed in the literature with regard to physical impairments. This narrative review aims to show that living with DMD involves psychological, psychosocial, and cognitive aspects in addition to the well-known physical complications. Methods: Firstly, this review examines the main cognitive functions affecting subjects with DMD and the possible role of dystrophin gene mutations on the central nervous system. Secondly, it analyzes the comorbidity between DMD, neurodevelopmental disorders (autism spectrum disorders, attention-deficit/hyperactivity disorder, obsessive–compulsive disorder) and psychopathological traits (anxiety and/or depressive symptoms). Finally, the review addresses the relatively sparse literature investigating the positive aspects associated with the experience of DMD, like psychosocial resources, resilience, subjective well-being, positive individual and social functioning, and social support. Results: DMD has a significant impact on cognitive areas, probably due to dystrophin deficiency in the brain. The prevalence of neurodevelopmental comorbidities and psychopathological symptoms is also higher in people with DMD than in the general population. Despite these challenges, emerging studies highlight the role of psychosocial and environmental resources, including resilience and supportive social relations, in promoting a good quality of life and successful adaptation to disease progression. Conclusions: Early recognition of the above difficulties and strengths could ensure better care and promote an overall better quality of life for people with DMD and their families, physically, psychologically, and socially. Preclinical and clinical research is moving in the direction of finding new therapies, treatments, and psychosocial interventions to pursue these goals. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders)
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