Diagnosis, Treatment, and Prognosis of Neuromuscular Disorders

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuromuscular and Movement Disorders".

Deadline for manuscript submissions: 30 May 2025 | Viewed by 2019

Special Issue Editors


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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
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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

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Keywords

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

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Published Papers (1 paper)

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Research

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 1581
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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