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Clinical Care and Rehabilitation for Neuromuscular Diseases
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Clinical Care and Rehabilitation for Neuromuscular Diseases

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Rehabilitation".

Deadline for manuscript submissions: closed (20 April 2026) | Viewed by 10493

Special Issue Editor

Dr. Hans-Jürgen Gdynia

E-Mail Website
Guest Editor
Department of Neurology, m&i-Fachklinik Enzensberg, 87629 Hopfen am See, Germany
Interests: neurological diseases; clinical neurology; adult neurology; neurorehabilitation; spinal cord injury; brain injury; motor learning; cognitive rehabilitation; neuromuscular disorders

Special Issue Information

Dear Colleagues,

Neuromuscular diseases comprise a heterogeneous group of disorders whose main common feature is progressive or non-progressive muscle weakness.

According to a classification by Sir John Walton, there are around 800 different forms of these diseases, which can be divided into diseases of the muscles, diseases of the peripheral nerves and anterior horn cells, and neuromuscular junction.

While these diseases used to play an outsider role in neurology, advances in modern medicine and neuroscience, especially in molecular genetics, have led to ever better diagnostic and therapeutic options, even for some diseases with a previously poor prognosis, so that the best possible clinical care and rehabilitation of these diseases now play a major role.

For this reason, in this upcoming Special Issue, we want to focus on current scientific aspects of modern clinical care and rehabilitation for all forms of neuromuscular diseases. Clinicians and scientists are cordially invited to submit original research papers or state-of-the-art reviews.

Dr. Hans-Jürgen Gdynia
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 250 words) can be sent to the Editorial Office for assessment.

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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
  • myopathy
  • neuropathy
  • motor neuron disease
  • amyotrophic lateral sclerosis
  • diseases of neuromuscular junction
  • neurorehabilitation
  • rehabilitation
  • clinical care
  • neuroscience

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

Published Papers (6 papers)

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Research

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14 pages, 2410 KB  
Article
Quantitative Assessment of Peripheral Nerve Echogenicity in Children and Adolescents Aged 2–17 Years: A Retrospective Cross-Sectional Ultrasound Study
by Jan-Hendrik Stahl, Charlotte Schubert, Anna-Sophie Grimm, Lina Maria Serna-Higuita, Cornelius Kronlage, Julia Wittlinger, Magdalena Schühle, Natalie Winter and Alexander Grimm
J. Clin. Med. 2026, 15(8), 3051; https://doi.org/10.3390/jcm15083051 - 16 Apr 2026
Viewed by 277
Abstract
Introduction/Aims: Quantitative analysis of nerve echogenicity can support the diagnosis of mono- and polyneuropathies, for instance by distinguishing inflammatory-demyelinating from axonal damage. However, echogenicity is mainly assessed qualitatively and examiner-dependently. This study aimed to establish quantitative reference data for grayscale values of [...] Read more.
Introduction/Aims: Quantitative analysis of nerve echogenicity can support the diagnosis of mono- and polyneuropathies, for instance by distinguishing inflammatory-demyelinating from axonal damage. However, echogenicity is mainly assessed qualitatively and examiner-dependently. This study aimed to establish quantitative reference data for grayscale values of peripheral nerves in the upper and lower extremities of healthy children and adolescents to provide a clinical benchmark. Methods: We retrospectively analyzed ultrasound data from 211 healthy children aged two to seventeen years who had undergone standardized examinations of 15 peripheral nerve sites. Grayscale analysis (0–255 levels per pixel) was performed within manually defined regions of interest (ROIs) using ImageJ (version 1.52). Echogenicity values were correlated with age, weight, height, and body mass index (BMI). Results: Echogenicity showed no significant overall association with biometric parameters. Mean grayscale values ranged from 85.23 ± 2.16 for the tibial nerve at the medial malleolus to 134.62 ± 2.69 for the sural nerve. Gain settings below 60 resulted in significantly lower grayscale values, whereas measurements with gain ≥ 60 were stable and comparable. Discussion: We propose reference grayscale ranges for peripheral nerves in healthy children and adolescents as a practical benchmark for clinical use and future studies. Due to technical constraints—particularly retrospective image processing and non-lossless data export—each laboratory should establish its own reference dataset, or multicentric parameters should be established. As our sample consisted predominantly of Caucasian participants, ethnic differences should be considered when applying these values to other populations. Full article
(This article belongs to the Special Issue Clinical Care and Rehabilitation for Neuromuscular Diseases)
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11 pages, 1335 KB  
Article
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report
by Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel, David Muhmann, Kiran Polavarapu, Rachel Thompson, Linda-Isabell Schmitt, Lola Lessard, Lei Chen, Astrid Eisenkölbl, Ulrike Schara-Schmidt, Andreas Hentschel, Hanns Lochmüller and Andreas Roos
J. Clin. Med. 2025, 14(24), 8636; https://doi.org/10.3390/jcm14248636 - 5 Dec 2025
Viewed by 752
Abstract
Background: Patients with neurodevelopmental and neuromuscular disorders often show overlapping clinical phenotypes. Pathogenic variants in KMT5B, a histone lysine methyltransferase, have been linked to neurodevelopmental disorders, yet their effects on human skeletal muscle remain unexplored. We report on a patient with [...] Read more.
Background: Patients with neurodevelopmental and neuromuscular disorders often show overlapping clinical phenotypes. Pathogenic variants in KMT5B, a histone lysine methyltransferase, have been linked to neurodevelopmental disorders, yet their effects on human skeletal muscle remain unexplored. We report on a patient with KMT5B-linked disease who presented to a neuromuscular specialty clinic with significant involvement of skeletal muscle, where a multi-omics approach established the genetic diagnosis and revealed neuromuscular findings relevant for diagnosis, care and rehabilitation. Methods: Whole-exome sequencing was performed from blood and data was analyzed using the RD-Connect Genome Phenome Analysis Platform. Histological analysis and proteomic profiling were performed on muscle tissue. Results: Whole-exome sequencing revealed a pathogenic heterozygous variant (c.554_557del, p.Tyr185Cysfs*27) in KMT5B. Histological examination revealed fiber-type grouping, angular fibers, increased fast-twitch fiber proportion, and lipid droplet accumulation, indicative of muscle denervation. Proteomic profiling identified 77 dysregulated proteins, including upregulation of sarcomeric proteins, mitochondrial and glycolytic enzymes, acute-phase and complement factors, and extracellular matrix components, reflecting structural remodeling, metabolic adaptation, and inflammatory activation. These findings align with the role types observed in Kmt5b mouse models, supporting a role of KMT5B in neuromuscular function. Conclusions: We present the first combined histological and proteomic analysis of quadriceps muscle from a patient carrying a pathogenic KMT5B variant with a neuromuscular phenotype. The convergence of histological and proteomic alterations suggests that KMT5B haploinsufficiency may be associated with fiber-type shifts, denervation, and metabolic stress in human skeletal muscle. Understanding these processes provides mechanistic insight into motor deficits and informs targeted therapeutic strategies, including physiotherapeutic interventions, and early compensatory measures. Full article
(This article belongs to the Special Issue Clinical Care and Rehabilitation for Neuromuscular Diseases)
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15 pages, 1530 KB  
Article
Complement Inhibitors in Generalized Myasthenia Gravis: Comparison of Administration Schedules, Efficacy, and Safety
by Giuseppe Di Martino, Nicasio Rini, Alessia Bonaventura, Mauro Trovato, Simona Maccora, Salvatore Maria Lima, Concetta La Seta, Filippo Brighina and Vincenzo Di Stefano
J. Clin. Med. 2025, 14(22), 8205; https://doi.org/10.3390/jcm14228205 - 19 Nov 2025
Cited by 2 | Viewed by 3103
Abstract
Background: Eculizumab, Ravulizumab, and Zilucoplan are inhibitors of terminal complement protein C5 (C5IT) approved for the treatment of generalized Myasthenia Gravis (gMG). The aim of this study is to compare the administration schedules, efficacy, and safety of these new biological therapies in a [...] Read more.
Background: Eculizumab, Ravulizumab, and Zilucoplan are inhibitors of terminal complement protein C5 (C5IT) approved for the treatment of generalized Myasthenia Gravis (gMG). The aim of this study is to compare the administration schedules, efficacy, and safety of these new biological therapies in a real-life setting. Methods: We enrolled 31 patients with gMG who received C5IT (Eculizumab: 7 patients; Ravulizumab: 11 patients; Zilucoplan: 13 patients). We gathered demographic, clinical data by the difference between scores at baseline (T0) and after follow-up for the MG-ADL, QMG, and MGC scales. Results: All C5IT demonstrated similar clinical efficacy, resulting in a statistically significant reduction in clinical scales scores for the MG-ADL (F = 14.7; p < 0.001), QMG (F = 14.78; p < 0.001), and MGC (F = 9.466; p < 0.001), with no significant differences among drugs (p > 0.05). No significant differences were highlighted in terms of MSE (p > 0.05). There was a decrease in the mean dose of steroid taken by patients in all three treatment groups (Eculizumab: −37%; Ravulizumab: −62%; Zilucoplan: −37%, at W34 compared to baseline). No myasthenic crises requiring hospitalization occurred during follow-up. Most of the reported adverse events were mild to moderate; the more severe events included one case of Stevens–Johnson syndrome (Ravulizumab) and episodes of pneumonia (Eculizumab, Ravulizumab). Conclusions: The comparison of C5IT did not bring out significant differences in terms of clinical efficacy and safety, representing a valid therapeutic option when traditional therapies fail to control disease symptoms. Full article
(This article belongs to the Special Issue Clinical Care and Rehabilitation for Neuromuscular Diseases)
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12 pages, 413 KB  
Article
The Effect of Long-Term Non-Invasive Ventilation on Tracheostomy-Free Survival and Hospitalizations in Types 2 and 3 Spinal Muscular Atrophy Patients
by Andrea Vianello, Gabriella Guarnieri, Leonardo Bertagna De Marchi, Beatrice Molena, Giovanna Arcaro, Giuliana Capece, Elena Sogus, Federico Lionello and Elena Pegoraro
J. Clin. Med. 2025, 14(22), 8171; https://doi.org/10.3390/jcm14228171 - 18 Nov 2025
Viewed by 805
Abstract
Background: The impact of Long-Term Non-Invasive Ventilation (LT-NIV) on patient-relevant outcomes has yet to be clearly established in types 2 and 3 Spinal Muscular Atrophy (SMA). Objectives: The current study aimed to assess LT-NIV effect(s) on tracheostomy-free survival and the need for hospitalization. [...] Read more.
Background: The impact of Long-Term Non-Invasive Ventilation (LT-NIV) on patient-relevant outcomes has yet to be clearly established in types 2 and 3 Spinal Muscular Atrophy (SMA). Objectives: The current study aimed to assess LT-NIV effect(s) on tracheostomy-free survival and the need for hospitalization. Its secondary aim was to identify patient characteristics that can be considered risk factors for an unsatisfactory response to treatment. Design: This study is a retrospective analysis of long-term outcomes in types 2 and 3 SMA patients receiving home LT-NIV. Methods:Patients and interventions: Eighteen types 2 and 3 SMA patients who were receiving home LT-NIV between 1 January 1990 and 31 March 2025 were included. Primary study endpoint: The endpoint comprised a composite of tracheostomy-free survival time and hospitalization rate. Results: Twelve patients (66.7%) had a positive response to LT-NIV (group A); the response was unsatisfactory in the remaining 6 (33.3%) (group B). Tracheostomy-free survival time was significantly reduced in the latter compared to the former [66 (range: 2–172) vs. 280 (range: 67–407) months; p = 0.010] and the hospitalization rate was significantly higher [0.35 (range: 0.06–1.44) vs. 0.07 (range: 0.00–0.18) episodes/yr; p = 0.007]. A correlation was found between an unsatisfactory response to LT-NIV and treatment initiation following an episode of acute respiratory failure (OR: 7.90; 95% CI, 0.99–123.2; p = 0.051). Conclusions: LT-NIV has a positive impact on tracheostomy-free survival and hospitalizations in types 2 and 3 SMA patients. The risk of an unsatisfactory response appears to be higher when the treatment is initiated in clinically unstable patients. Full article
(This article belongs to the Special Issue Clinical Care and Rehabilitation for Neuromuscular Diseases)
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Review

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23 pages, 393 KB  
Review
Rehabilitation in Amyotrophic Lateral Sclerosis: Recommendations for Clinical Practice and Further Research
by Andreas Gratzer, Natalie Gdynia, Nadine Sasse, Rainer Beese, Cordula Winterholler, Yvonne Bauer, Carsten Schröter and Hans-Jürgen Gdynia
J. Clin. Med. 2025, 14(23), 8590; https://doi.org/10.3390/jcm14238590 - 4 Dec 2025
Viewed by 3451
Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative condition characterized by the degeneration of upper and lower motor neurons. This degeneration leads to a gradual muscle weakness, dysarthria, dysphagia, respiratory insufficiency, and, in some patients, alterations in cognitive and behavioral performance. Regardless of [...] Read more.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative condition characterized by the degeneration of upper and lower motor neurons. This degeneration leads to a gradual muscle weakness, dysarthria, dysphagia, respiratory insufficiency, and, in some patients, alterations in cognitive and behavioral performance. Regardless of advancements made in pharmacological and gene-targeted interventions, a definitive curative treatment remains elusive. Consequently, rehabilitation plays a pivotal role in preserving autonomy, participation, and overall quality of life. This review outlines the current evidence and clinical approaches related to multidisciplinary rehabilitation in ALS. It covers physical and occupational therapy, respiratory, speech and language, psychological, and palliative care domains. Evidence supports moderate tailored exercise programs, early respiratory therapy, and structured management of mobility deficits, spasticity, pain, dysphagia, and communication impairments as key elements of symptomatic treatment. Psychological and social support, which includes the involvement of caregivers and relatives, enhances emotional well-being and coping resilience. Even with progressive development of gene-targeted and disease-modifying therapies, rehabilitation will stay relevant for maintaining long-term motor function. This review highlights the need for standardized, evidence-based rehabilitation protocols and intensified neurorehabilitation research to strengthen clinical outcomes and quality of life as key therapeutic goals in ALS management. Full article
(This article belongs to the Special Issue Clinical Care and Rehabilitation for Neuromuscular Diseases)

Other

Jump to: Research, Review

7 pages, 835 KB  
Opinion
Rethinking Pulmonary Function Tests in Patients with Neuromuscular Disease: The Potential Role of Electrical Impedance Tomography
by Andrea Vianello, Gabriella Guarnieri and Federico Lionello
J. Clin. Med. 2025, 14(23), 8486; https://doi.org/10.3390/jcm14238486 - 29 Nov 2025
Viewed by 650
Abstract
An assessment of pulmonary function provides information that can contribute to establishing the severity of respiratory impairment, to predicting the onset of respiratory symptoms, and ultimately to optimizing the care of Neuromuscular Disease (NMD) patients. It is nevertheless well known that conventional Pulmonary [...] Read more.
An assessment of pulmonary function provides information that can contribute to establishing the severity of respiratory impairment, to predicting the onset of respiratory symptoms, and ultimately to optimizing the care of Neuromuscular Disease (NMD) patients. It is nevertheless well known that conventional Pulmonary Function Tests (PFTs) have several technical limitations and that their accuracy depends to some extent on the patient’s ability to cooperate. For this reason, it is essential to move beyond traditional pulmonary function evaluation in individuals with NMD. A relatively new technology, electrical impedance tomography (EIT) is an easy-to-use, radiation-free imaging technique that may overcome many of the limitations of conventional PFTs by producing real-time images of regional ventilation and tidal volume distribution. As it is safe and independent from patient cooperation, EIT is expected to improve the diagnosis of respiratory compromise and facilitate the implementation of timely, personalized treatments for NMD patients. There are nevertheless technical problems that need to be addressed to facilitate its diffusion in clinical practice. Full article
(This article belongs to the Special Issue Clinical Care and Rehabilitation for Neuromuscular Diseases)
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