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Brain Sciences
Special Issues
Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases
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Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases

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

Deadline for manuscript submissions: 31 May 2025 | Viewed by 14859

Special Issue Editor

Dr. Vincenzo Donadio

E-Mail Website
Guest Editor
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy
Interests: neurodegenerative disorders; autonomic dysfunctions; peripheral neuropathy; skin innervation; autonomic tests; synucleinopathies; pain

Special Issue Information

Dear Colleagues,

Background and History of this topic: In recent years, the diagnosis of neuromuscular diseases has presented important advances for the development of new investigation methods; for example, skin biopsy was developed to identify small fiber neuropathies, which were difficult to identify before the advent of this tool. This field is particularly timely considering the correlation of small fiber neuropathy with COVID-19 infection and vaccines. Another important advance in the diagnosis of neuromuscular diseases is the easily available screening for hereditary transthyretin amyloidosis (hATTR), which today is also possible to use on saliva. Because of the easily available test screening for hATTR, the screening is now conducted routinely in patients with unexplained peripheral neuropathy. The early diagnosis of this condition is important as it is a treatable condition, considering that various therapies have been developed that can substantially impact the course of the disease. Regarding therapy, important advances were achieved for the implementation of new therapies in additional neuromuscular diseases, both genetic (i.e., gene therapies for spinal muscular atrophy) and acquired (such as immunomodulatory therapy in myasthenia gravis or CIDP). Furthermore, an update on the diagnosis and treatment of many different, but equally important, neuromuscular disorders such as Lambert Eaton myasthenic syndrome, myotonic dystrophy, Charcot Marie Tooth, facioscapulohumeral muscular dystrophy, and immune-mediated inflammatory myopathies is also important to highlight and update the most recent clinical guidelines. The clarification and updating of the diagnosis and treatment, including rehabilitation management, of the main neuromuscular diseases is an important service for clinicians who manage these diseases to make the clinical management of these pathologies increasingly effective and standardized.

Aim and Scope of the Special Issue: We aim to report clinical guidelines and to enhance recent evidence on the diagnosis, therapy, and rehabilitation of neuromuscular disorders.

Cutting-edge research: Papers dealing with the diagnosis, therapy, and rehabilitation of neuromuscular diseases are welcome. In particular, studies deepening innovative diagnostic tools or newly implemented treatments for neuromuscular diseases are particularly appreciated. Furthermore, studies that targeted clinical guidelines for neuromuscular disorders are also welcome.

Types of papers solicited: Original articles and systematic reviews.

Dr. Vincenzo Donadio
Guest Editor

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 diseases
  • autonomic dysfunctions
  • pain
  • small fiber neuropathies
  • Fabry disease
  • hereditary transthyretin amyloidosis
  • myasthenic disorders
  • myopathies
  • diagnosis and treatment

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Published Papers (7 papers)

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Research

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18 pages, 2826 KiB  
Article
Real-World Case Series of Ravulizumab Use in Patients with Myasthenia Gravis in Romania
by Crisanda Vîlciu, Oana Antonia Mihalache, Bogdan Marius Istrate, Mihaela Aftinia Marian, Mirela Ramona Drăghici, Diana Mihaela Petrescu, Adriana Octaviana Dulămea and Daniela Cristina Anghel
Brain Sci. 2025, 15(4), 350; https://doi.org/10.3390/brainsci15040350 - 28 Mar 2025
Viewed by 387
Abstract
Background and Objectives: Ravulizumab, a long-acting C5 complement inhibitor, was approved in the US and Europe in 2022 as an add-on therapy for the standard treatment of AChR-positive generalized MG (gMG). We share our real-world experience with adult patients receiving this therapy in [...] Read more.
Background and Objectives: Ravulizumab, a long-acting C5 complement inhibitor, was approved in the US and Europe in 2022 as an add-on therapy for the standard treatment of AChR-positive generalized MG (gMG). We share our real-world experience with adult patients receiving this therapy in Romania. Materials and Methods: Six AChR-positive gMG patients received ravulizumab through an Early Access Program (January 2023–October 2024). Patient outcomes were assessed at the therapy start and q8w using Quantitative MG (QMG), MG Activities of Daily Living (MG-ADL), and MG Quality of Life 15-item revised (MG-QoL15r) scales. Results: Age at disease onset ranged from 15 to 35 years. Four of the six patients were women. Two patients had gMG severity level of IIa, and four patients of IIb according to the Myasthenia Gravis Foundation of America (MGFA) classification. Five patients experienced rapid and sustained improvements in MG symptoms with MG-ADL score reductions ranged from −3 to −5 at 26 weeks post-ravulizumab start (except for those with a low baseline score: three and one). QMG score dropped in three patients (−2 to 12) during the treatment period, increased in two (+2 and +8), and remained stable in one (zero). Three patients showed sustained improvement in MG symptoms after ≥60 weeks. MG-QoL15r significantly dropped (−22 to −10) throughout the treatment period. One patient experienced ravulizumab-associated adverse events (vomiting, diarrhea, chills) that resolved within 24 h following symptomatic management, two to three episodes of myasthenic exacerbations during treatment, and discontinued it. Conclusions: All cases presented here had early-onset AChR antibody-positive, non-thymomatous MG. Despite differences in disease duration and underlying conditions, clinically meaningful and sustained improvements in gMG symptoms, and reduced corticosteroid doses were observed in all patients except one after adding ravulizumab to the treatment plan. Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)
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13 pages, 274 KiB  
Article
The Effectiveness of Motor Imagery in Balance and Functional Status of Older People with Early-Stage Dementia
by Anna Christakou, Christina Bouzineki, Marousa Pavlou, George Stranjalis and Vasiliki Sakellari
Brain Sci. 2024, 14(11), 1151; https://doi.org/10.3390/brainsci14111151 - 17 Nov 2024
Cited by 1 | Viewed by 1253
Abstract
Background/Objectives: Dementia involves the loss of cognitive abilities and impairs functional abilities in daily life. In motor imagery (MI) techniques, motor acts are mentally rehearsed without any overt body movements. The purpose of the randomized controlled trial was to examine the effects of [...] Read more.
Background/Objectives: Dementia involves the loss of cognitive abilities and impairs functional abilities in daily life. In motor imagery (MI) techniques, motor acts are mentally rehearsed without any overt body movements. The purpose of the randomized controlled trial was to examine the effects of MI on the motor function of older adults with dementia. Methods: Overall, 160 participants (43 men, 117 women, MMSE M = 23.20, SD = 0.15) from an Athens Day Care Center of the Alzheimer Association were randomized to (a) the MI and exercise group (experimental group) (n = 55), (b) the only exercise group (1st control group) (n = 52) and (c) the neither MI nor exercise group (2nd control group) (n = 53). The exercise session comprised 24 physiotherapy exercise sessions, lasting 45 min each, twice a week for 12 weeks. The exercises were selected from the Otago Exercise Program. Three assessments were performed: (a) one week prior to the program, (b) at one and a half months and (c) after the program. The experimental group performed a 30-minute MI with exercise program content after the end of every physiotherapy exercise session. The Multidirectional Reach Test, Five Times Sit-to-Stand Test (FTSST), Timed Up and Go test (TUG), Functional Gait Assessment (FGA) and Berg Balance Scale (BBS) were used to assess participants’ balance and functional status. Results: In the intention to treat analysis (18 participants dropped out), the 3 × 3 repeated measures ANOVA indicated statistically significant results between the three groups on (a) the TUG (F = 3.06, df (2), p = 0.04), (b) the FTSST (F = 3.00, df (2), p = 0.05), (c) the forward direction test (F = 4.14 df (2), p = 0.02), the lateral right and the lateral left direction tests (F = 3.90, df (2), p = 0.02 and F = 7.87, df (2), p = 0.00, respectively), and (d) the FGA (F = 4.35, df (2), p = 0.01). The Friedman test showed significant statistical significant differences among the three groups for BBS (X2 = 7.62, df = 2, p = 0.22), and an effect size of partial η2 coefficient for F-tests was found. Post hoc comparisons using a Bonferroni test for ANOVA and Wilcoxon test for Friedman indicated that the mean scores for the experimental group and the 1st control were significantly better than the 2rd control group in many dependent variables. Conclusions: The study showed a positive effect of MI on balance and the functional status of older adults with early stages of dementia with possible beneficial effects on maintaining independence and reducing physical decline. Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)

Review

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16 pages, 458 KiB  
Review
A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia
by Ahmed K. Bamaga, Anas S. Alyazidi and Feryal K. Alali
Brain Sci. 2025, 15(4), 403; https://doi.org/10.3390/brainsci15040403 - 17 Apr 2025
Viewed by 280
Abstract
Inherited neuropathies are a heterogeneous group of disorders that affect the peripheral nervous system, leading to motor, sensory, and autonomic dysfunction. These disorders are classified into various subgroups, including hereditary sensory and motor neuropathies, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, [...] Read more.
Inherited neuropathies are a heterogeneous group of disorders that affect the peripheral nervous system, leading to motor, sensory, and autonomic dysfunction. These disorders are classified into various subgroups, including hereditary sensory and motor neuropathies, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, and more complex forms. Advances in genetic testing, particularly next-generation sequencing (NGS), have significantly improved the identification of these disorders. Emerging therapies, such as gene therapy, small molecule therapies, and antisense oligonucleotides, offer promising treatment options. However, current treatments remain limited, and their clinical benefits in humans are not yet fully established. This review provides a comprehensive overview of recent developments and evolving therapeutic options for hereditary neuropathies, focusing on gene therapy, small molecule therapies, and antisense oligonucleotides. It also highlights the current state of inherited neuropathies in Saudi Arabia, emphasizing the need for national guidelines, patient registries, and collaborative research efforts. By integrating advanced genomic technologies and fostering international collaboration, we can improve the diagnosis, management, and treatment outcomes for patients with inherited neuropathies. Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)
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15 pages, 596 KiB  
Review
Small-Fiber Neuropathy: An Etiology-Oriented Review
by Alessandro Furia, Rocco Liguori and Vincenzo Donadio
Brain Sci. 2025, 15(2), 158; https://doi.org/10.3390/brainsci15020158 - 6 Feb 2025
Viewed by 1758
Abstract
Background: Small-fiber neuropathy (SFN), affecting Aδ or C nerve fibers, is characterized by alterations of pain and temperature sensation, as well as autonomic dysfunction. Its diagnosis may still remain challenging as methods specifically assessing small nerve fibers are not always readily available, and [...] Read more.
Background: Small-fiber neuropathy (SFN), affecting Aδ or C nerve fibers, is characterized by alterations of pain and temperature sensation, as well as autonomic dysfunction. Its diagnosis may still remain challenging as methods specifically assessing small nerve fibers are not always readily available, and standard techniques for large-fiber neuropathies, such as electroneuromyography, yield negative results. Still, skin biopsy for epidermal innervation and quantitative sensory testing allow for diagnosis in the presence of a congruent clinical picture. Objectives: Many different etiologies may underlie small-fiber neuropathy, of which metabolic (diabetes mellitus/impaired glucose tolerance) and idiopathic remain prevalent. The aim of this narrative review is to provide a general picture of SFN while focusing on the different etiologies described in the literature in order to raise awareness of the variegated set of different causes of SFN and promote adequate diagnostic investigation. Methods: The term “Small-Fiber Neuropathy” was searched on the PubMed database with its different recognized etiologies: the abstracts of the articles were reviewed and described in the article if relevant for a total of 40 studies. Results: Many different disorders have been associated with SFN, even though often in the form of case reports or small case series. Conclusions: Idiopathic forms of SFN remain the most prevalent in the literature, but association with different disorders (e.g., infectious, autoimmune) should prompt investigation for SFN in the presence of a congruent clinical picture (e.g., pain with neuropathic features). Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)
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16 pages, 2713 KiB  
Review
Usefulness and Clinical Impact of Whole-Body MRI in Detecting Autoimmune Neuromuscular Disorders
by Mario Pace, Roberto Cannella, Vincenzo Di Stefano, Antonino Lupica, Paolo Alonge, Giulio Morici, Filippo Brighina, Federica Brancato, Federico Midiri and Massimo Galia
Brain Sci. 2023, 13(10), 1500; https://doi.org/10.3390/brainsci13101500 - 23 Oct 2023
Cited by 1 | Viewed by 2914
Abstract
Autoimmune neuromuscular diseases are a group of heterogenous pathologies secondary to the activation of the immune system that damage the structures of the peripheric nerve, the neuromuscular junction, or the skeleton muscle. The diagnosis of autoimmune neuromuscular disorders comprises a combination of data [...] Read more.
Autoimmune neuromuscular diseases are a group of heterogenous pathologies secondary to the activation of the immune system that damage the structures of the peripheric nerve, the neuromuscular junction, or the skeleton muscle. The diagnosis of autoimmune neuromuscular disorders comprises a combination of data from clinical, laboratory, electromyography, imaging exam, and biopsy. Particularly, the whole-body MRI examination in the last two decades has been of great use in the assessment of neuromuscular disorders. MRI provides information about the structures involved and the status of activity of the disease. It can also be used as a biomarker, detect the pattern of specific muscle involvement, and is a useful tool for targeting the optimal muscle site for biopsy. In this work, we summarized the most used technical protocol of whole-body MRI and the role of this imaging technique in autoimmune neuromuscular disorders. Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)
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13 pages, 601 KiB  
Review
Diagnosis and Management of Seronegative Myasthenia Gravis: Lights and Shadows
by Claudia Vinciguerra, Liliana Bevilacqua, Antonino Lupica, Federica Ginanneschi, Giuseppe Piscosquito, Nicasio Rini, Alessandro Rossi, Paolo Barone, Filippo Brighina and Vincenzo Di Stefano
Brain Sci. 2023, 13(9), 1286; https://doi.org/10.3390/brainsci13091286 - 5 Sep 2023
Cited by 19 | Viewed by 6245
Abstract
Myasthenia gravis (MG) is an antibody-mediated neuromuscular disease affecting the neuromuscular junction. In most cases, autoantibodies can be detected in the sera of MG patients, thus aiding in diagnosis and allowing for early screening. However, there is a small proportion of patients who [...] Read more.
Myasthenia gravis (MG) is an antibody-mediated neuromuscular disease affecting the neuromuscular junction. In most cases, autoantibodies can be detected in the sera of MG patients, thus aiding in diagnosis and allowing for early screening. However, there is a small proportion of patients who have no detectable auto-antibodies, a condition termed “seronegative MG” (SnMG). Several factors contribute to this, including laboratory test inaccuracies, decreased antibody production, immunosuppressive therapy, immunodeficiencies, antigen depletion, and immune-senescence. The diagnosis of SnMG is more challenging and is based on clinical features and neurophysiological tests. The early identification of these patients is needed in order to ensure early treatment and prevent complications. This narrative review aims to examine the latest updates on SnMG, defining the clinical characteristics of affected patients, diagnostic methods, management, and therapeutic scenarios. Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)
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Other

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8 pages, 1010 KiB  
Brief Report
Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in the TTR Gene
by Vincenzo Di Stefano, Pietro Guaraldi, Francesca Giglia, Ilaria Cani, Antonia Pignolo, Luca Codeluppi, Paolo Alonge, Elena Canali, Giovanni De Lisi, Ada Maria Florena, Eugenia Borgione and Filippo Brighina
Brain Sci. 2024, 14(6), 519; https://doi.org/10.3390/brainsci14060519 - 21 May 2024
Cited by 1 | Viewed by 1331
Abstract
Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the TTR gene. The His90Asn mutation has been previously reported in several reports, [...] Read more.
Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in the TTR gene. The His90Asn mutation has been previously reported in several reports, but its pathogenetic role is still debated. We report two sporadic cases of adult women with a heterozygous His90Asn mutation in TTR gene and neurological involvement extensively investigated. A typical Congo red-positive pathologic deposition of amyloid fibrils in the salivary glands was documented in one subject. Patients were successfully treated with patisiran with a good clinical outcome. These data support a pathogenetic role of His90Asn mutation in hATTR, and suggest early treatment in symptomatic carriers of His90Asn mutation. Full article
(This article belongs to the Special Issue Diagnosis, Therapy and Rehabilitation in Neuromuscular Diseases)
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