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: 30 May 2025 | Viewed by 2683

Special Issue Editors


E-Mail
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

E-Mail Website
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

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

11 pages, 476 KiB  
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
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)
Show Figures

Figure 1

11 pages, 1695 KiB  
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 1777
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)
Show Figures

Figure 1

Back to TopTop