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Medicina
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Neuromuscular Disorders: Diagnostical Approaches and Treatments
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Neuromuscular Disorders: Diagnostical Approaches and Treatments

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Neurology".

Deadline for manuscript submissions: closed (25 February 2025) | Viewed by 22762

Special Issue Editor

Prof. Dr. Jung-Ho Lee

E-Mail Website
Guest Editor
Department of Physical Therapy, Kyungdong University, 815, Gyeonhwon-ro, Munmak-eup, Wonju-si 26495, Gang-won-do, Republic of Korea
Interests: neuroscience; neurorehabilitation; central nervous system damage

Special Issue Information

Dear Colleagues,

Neuromuscular disorders (NMDs) encompass a range of conditions that impair the function of muscles or the nerves that control them. Over the years, the diagnostic tools used to understand and treat NMDs have evolved from mere early observations of muscle weakness and wasting through rudimentary physical examinations to the advanced molecular techniques such as sophisticated imaging and genetic testing. These advancements have helped clinicians and researchers to better understand the pathophysiology behind these disorders.

The primary aim of this Special Issue ‘Neuromuscular Disorders: Diagnostical Approaches and Treatments’ is to provide a platform for presenting the latest research, innovations, and findings in the diagnosis, understanding, and treatment of NMDs, along with addressing the socio-economic impacts, patient care and rehabilitation strategies. We will accept submissions of papers covering a broad spectrum of conditions, ranging from common ones such as myasthenia gravis to rarer disorders.

Prof. Dr. Jung-Ho Lee
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. Medicina 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

  • diagnosis
  • approach
  • treatment
  • neuromuscular disorders
  • neuroscience
  • neurorehabilitation
  • neuroplasticity

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Published Papers (9 papers)

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Research

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12 pages, 720 KiB  
Article
Ultrasonography of the Vagus Nerve for ALS Patients: Correlations with Clinical Data and Dysfunction of the Autonomic Nervous System
by Ovidijus Laucius, Justinas Drūteika, Tadas Vanagas, Renata Balnytė, Andrius Radžiūnas and Antanas Vaitkus
Medicina 2025, 61(5), 902; https://doi.org/10.3390/medicina61050902 - 16 May 2025
Viewed by 365
Abstract
Background and Objectives: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons, leading to the rapid decline of motor function. In recent years, dysfunction of the autonomic nervous system (ANS) has also [...] Read more.
Background and Objectives: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motor neurons, leading to the rapid decline of motor function. In recent years, dysfunction of the autonomic nervous system (ANS) has also been increasingly recognized as a contributing factor in various neurodegenerative diseases, including ALS. This study is the second publication from our ALS research cohort at Kaunas Clinics. Our previous work examined ultrasonographic changes in the phrenic nerve as a supplementary diagnostic approach for ALS. Materials and Methods: In the present study, we investigated ultrasonographic alterations of the vagus nerve within the same ALS cohort, aiming to explore correlations with ANS involvement. We performed high-resolution ultrasonography of the vagus nerve (VN), collected clinical data, conducted heart rate monitoring, and evaluated respiratory function. Results: We prospectively included 32 ALS patients meeting “Gold Coast” criteria and 64 age- and sex-matched control patients. The average onset of ALS was 57.97 ± 9.22 years, and the duration of the disease was15.41 ± 9.04 months. For ALS patients, we found significantly reduced vagus nerve cross-sectional area (CSA) at the level of the carotid artery bifurcation bilaterally compared to controls (right VN 1.86 ± 0.21 vs. 2.07 ± 0.18 mm2, p < 0.001; left VN 1.69 ± 0.21 vs. 1.87 ± 0.21 mm2, p < 0.001). Reduced values of the left VN positively correlated with the reduced values of FEV1% and sO2. Conclusions: Our findings revealed a significant bilateral reduction in vagus nerve size in ALS patients compared to controls, suggesting that vagal atrophy may serve as a potential marker of autonomic dysfunction in ALS. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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13 pages, 647 KiB  
Article
Effects of Core Stability Training on Deep Stabilizing Muscle Function and Neuromuscular Control
by Kyeongjin Lee
Medicina 2025, 61(3), 364; https://doi.org/10.3390/medicina61030364 - 20 Feb 2025
Viewed by 1861
Abstract
Background and Objectives: Pilates-based core stabilization training has garnered increasing attention for its potential to improve deep muscle activation and enhance spinal stability. This study aimed to investigate the effects of Pilates-based core stabilization training on deep stabilizing muscles using rehabilitative ultrasound [...] Read more.
Background and Objectives: Pilates-based core stabilization training has garnered increasing attention for its potential to improve deep muscle activation and enhance spinal stability. This study aimed to investigate the effects of Pilates-based core stabilization training on deep stabilizing muscles using rehabilitative ultrasound imaging (RUSI). Materials and Methods: A total of 57 healthy adults aged 20 to 29 years were recruited and randomly allocated to either an experimental group (n = 29) or a control group (n = 28). Participants in the experimental group engaged in Pilates-based core stabilization training three times per week for six weeks, while the control group performed aerobic exercises. The pre- and post-intervention assessments included measurements of muscle thickness, contraction timing, and contraction ratios of the transverse abdominis (TrA), internal oblique (IO), and external oblique (EO) muscles, evaluated using RUSI. Results: The experimental group demonstrated significant improvements in TrA and IO thickness (p < 0.05), contraction timing (p < 0.05), and contraction ratios (p < 0.05) compared to the control group. The EO muscle also showed significant, albeit less pronounced, enhancements in thickness and contraction ratios. Conclusions: Pilates-based core stabilization training significantly improves core muscle function, including muscle thickness, contraction timing, and contraction ratios. These findings support the inclusion of Pilates exercises in clinical protocols aimed at enhancing core stability. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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10 pages, 1338 KiB  
Article
A Comparative Study of the Electroneurographic Findings in Amyloidotic Polyneuropathy in Patients with Light-Chain Amyloidosis and Glu54Gln Transthyretin Amyloidosis
by Mirela Drăghici, Sorina N. Bădeliță, Andreea Jercan, Oana Obrișcă, Crisanda Vîlciu, Monica Popescu, Adina Turcu-Stiolica and Daniel Coriu
Medicina 2024, 60(12), 2027; https://doi.org/10.3390/medicina60122027 - 9 Dec 2024
Cited by 1 | Viewed by 1092
Abstract
Background and Objectives: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain [...] Read more.
Background and Objectives: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types. In amyloidosis, peripheral nervous system involvement is a significant diagnostic feature, particularly when it manifests as polyneuropathy, carpal tunnel syndrome (CTS), and dysautonomia. These neurological symptoms often point to the involvement of amyloid deposits in the peripheral and autonomic nervous systems, which can help identify and differentiate between the various types of amyloidosis. Materials and Methods: This retrospective study focused on the evolution of electrophysiological parameters in two groups: AL (n = 22) and hATTR-Glu54Gln patients (n = 14), with mixed axonal polyneuropathy. Patients were followed for two consecutive years to assess disease progression. The PND scale (polyneuropathy disability) was also used to assess motor impairment for each patient. Results: In our study AL amyloidosis patients presented with mixed, axonal polyneuropathy associated with CTS in 63.6% of cases and cardiomyopathy (45.5%). Serial EMGs (electromyography) showed decreased motor amplitudes of the common peroneal and tibial nerves and sensory amplitude of the superficial peroneal nerve, with mostly preserved conduction velocities. The patients maintained stage I PND throughout the monitoring period. The entire hATTR group displayed mixed, axonal polyneuropathy and cardiomyopathy; 85.7% of them had CTS, and 42.9% had orthostatic hypotension. EMG data showed decreased motor amplitudes of the tibial and common peroneal nerves, decreased sensory amplitudes of the superficial peroneal nerve, and mildly reduced conduction velocities, with significant progression at 12 and 24 months. The patients displayed additional reduced muscle strength, some reaching stage 3A and 3B-PND at the end of the study. Conclusions: The amyloidotic polyneuropathy found in the groups was similar in its axonal, sensory-motor, and length-dependent characteristics, but the study showed significant differences in its progression, with more abrupt changes in the hATTR-Glu54Gln group. The amyloidosis AL patients remained in stage 1 PND, while the hATTR-Glu54Gln patients progressed to stage 3 PND at 24 months. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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14 pages, 309 KiB  
Article
Optimizing Rehabilitation Outcomes for Stroke Survivors: The Impact of Speed and Slope Adjustments in Anti-Gravity Treadmill Training
by Jung-Ho Lee and Eun-Ja Kim
Medicina 2024, 60(4), 542; https://doi.org/10.3390/medicina60040542 - 27 Mar 2024
Cited by 4 | Viewed by 2614
Abstract
Background and Objectives: This study explored the efficacy of customized anti-gravity treadmill (AGT) training, with adjustments in speed and incline, on rehabilitation outcomes for stroke patients, focusing on knee extensor muscle strength, joint angle, balance ability, and activities of daily living (ADLs). Materials [...] Read more.
Background and Objectives: This study explored the efficacy of customized anti-gravity treadmill (AGT) training, with adjustments in speed and incline, on rehabilitation outcomes for stroke patients, focusing on knee extensor muscle strength, joint angle, balance ability, and activities of daily living (ADLs). Materials and Methods: In this study, 30 individuals diagnosed with a stroke were divided into three groups. Experimental group 1 (EG1) underwent training without changes to speed and incline, experimental group 2 (EG2) received training with an increased incline, and experimental group 3 (EG3) underwent training with increased speed. Initially, all participants received AGT training under uniform conditions for two weeks. Subsequently, from the third to the sixth week, each group underwent their specified training intervention. Evaluations were conducted before the intervention and six weeks post-intervention using a manual muscle strength tester for knee strength, TETRAX for balance ability, Dartfish software for analyzing knee angle, and the Korean version of the Modified Barthel Index (K-MBI) for assessing activities of daily living. Results: Within-group comparisons revealed that AGT training led to enhancements in muscle strength, balance ability, joint angle, and ADLs across all participant groups. Between-group analyses indicated that EG2, which underwent increased incline training, demonstrated significant improvements in muscle strength and balance ability over EG1. EG3 not only showed significant enhancements in muscle strength, joint angle, and ADLs when compared to EG1 but also surpassed EG2 in terms of knee strength improvement. Conclusions: In conclusion, the application of customized AGT training positively impacts the rehabilitation of stroke patients, underscoring the importance of selecting a treatment method tailored to the specific needs of each patient. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)

Review

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19 pages, 877 KiB  
Review
A Comprehensive Review: Robot-Assisted Treatments for Gait Rehabilitation in Stroke Patients
by Yong-Hwa Park, Dae-Hwan Lee and Jung-Ho Lee
Medicina 2024, 60(4), 620; https://doi.org/10.3390/medicina60040620 - 10 Apr 2024
Cited by 11 | Viewed by 8181
Abstract
Robot-assisted gait training (RAGT) is at the cutting edge of stroke rehabilitation, offering a groundbreaking method to improve motor recovery and enhance the quality of life for stroke survivors. This review investigates the effectiveness and application of various RAGT systems, including both end-effector [...] Read more.
Robot-assisted gait training (RAGT) is at the cutting edge of stroke rehabilitation, offering a groundbreaking method to improve motor recovery and enhance the quality of life for stroke survivors. This review investigates the effectiveness and application of various RAGT systems, including both end-effector and exoskeleton robots, in facilitating gait enhancements. The selection process for this comprehensive analysis involved a meticulous review of the literature from databases such as PubMed, the Cochrane Library, and EMBASE, focusing on studies published between 2018 and 2023. Ultimately, 27 studies met the criteria and were included in the final analysis. The focus of these studies was on the various RAGT systems and their role in promoting gait and balance improvements. The results of these studies conclusively show that patients experience significant positive effects from RAGT, and when combined with other physiotherapy methods, the outcomes are notably superior in enhancing functional ambulation and motor skills. This review emphasizes RAGT’s capability to deliver a more customized and effective rehabilitation experience, highlighting the importance of tailoring interventions to meet the specific needs of each patient. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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Other

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14 pages, 774 KiB  
Systematic Review
Association of VDR Polymorphisms (FokI, ApaI, and TaqI) with Susceptibility to Lumbar Disc Herniation: Systematic Review, Meta-Analysis, Trial Sequential Analysis, and Transcriptional Prediction
by Alireza Sheikhi, Mohsen Nabiuni, Soha Zia, Masoud Sadeghi, Annette B. Brühl and Serge Brand
Medicina 2025, 61(5), 882; https://doi.org/10.3390/medicina61050882 - 12 May 2025
Viewed by 432
Abstract
Background and Objectives: Lumbar disc herniation (LDH) is influenced by genetic, mechanical, and behavioral factors, with genetic predisposition playing a key role. Vitamin D receptor (VDR) polymorphisms have been implicated in LDH susceptibility, warranting further investigation. This study aimed to [...] Read more.
Background and Objectives: Lumbar disc herniation (LDH) is influenced by genetic, mechanical, and behavioral factors, with genetic predisposition playing a key role. Vitamin D receptor (VDR) polymorphisms have been implicated in LDH susceptibility, warranting further investigation. This study aimed to assess the association between VDR polymorphisms (FokI, ApaI, and TaqI) and LDH risk through a systematic review, meta-analysis, and trial sequential analysis (TSA). Materials and Methods: A systematic literature search was conducted across PubMed, Web of Science, Scopus, Cochrane Library, and CNKI, up until 30 January 2025. A meta-analysis was performed using Review Manager 5.3, with odds ratios (ORs) and 95% confidence intervals (CIs), and heterogeneity assessed via the I2 statistic. The publication bias and TSA were evaluated using CMA 3.0 and TSA software to ensure the reliability of the results. The FATHMM-XF method was applied to predict the functional effect of coding and non-coding polymorphisms. Results: From 79 records, 10 studies were entered into the meta-analysis. The meta-analysis results showed no significant association of FokI and ApaI polymorphisms with LDH, while TaqI exhibited a protective effect, particularly in Asian populations and larger studies. The subgroup analysis revealed significant ethnicity-specific associations for TaqI, with stronger effects observed in Asian compared to Caucasian individuals. The trial sequential analysis indicated that additional studies are required to confirm the findings for FokI, while the recessive model of TaqI polymorphism showed a near-sufficient sample size for reliable conclusions. Conclusions: The TaqI polymorphism, particularly the tt genotype, appears to have a protective effect against LDH, especially in Asian populations and larger studies. However, further large-scale, multi-ethnic research is needed to confirm these findings and explore underlying biological mechanisms. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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8 pages, 1063 KiB  
Brief Report
Exploring the Non-Invasive Approaches to Carpal Tunnel Syndrome in Routine Clinical Practice: A Focus on the Role of Acetylcholinesterase Inhibitors
by Ojārs Rubens, Solvita Bērziņa, Anda Rozenbaha, Guna Dansone and Yulia Troshina
Medicina 2024, 60(8), 1219; https://doi.org/10.3390/medicina60081219 - 27 Jul 2024
Cited by 1 | Viewed by 1219
Abstract
The prevalence of N. medianus compression neuropathies remains high in clinical practice. The objective was to evaluate modalities of conservative treatments for carpal tunnel syndrome (CTS) focusing on the role of acetylcholinesterase inhibitors. This observational study involved 51 adult outpatients diagnosed with CTS. [...] Read more.
The prevalence of N. medianus compression neuropathies remains high in clinical practice. The objective was to evaluate modalities of conservative treatments for carpal tunnel syndrome (CTS) focusing on the role of acetylcholinesterase inhibitors. This observational study involved 51 adult outpatients diagnosed with CTS. Patients were observed during routine clinical protocols and we compared two groups of 25 and 26 individuals, with the first group receiving basic therapy for CTS and 20 mg of ipidacrine (Neiromidin®) two or three times a day per os, while the second group received only basic therapy. The condition of all patients was assessed twice, with at least a one-month interval. The parameters evaluated included the Boston Carpal Tunnel Questionnaire (BCTQ); the Disabilities of the Arm, Shoulder, and Hand scale (DASH); and pain intensity on the Numeric Rating Scale (NRS). The mean reduction in DASH score was 12.3 (SD 7.7) in Group 1 and 7.1 (SD 6.3) in Group 2 (p < 0.01). Also, other scores showed statistically significant differences between the two groups: −2.3 vs. −1.0 for NRS, −0.89 vs. −0.44 for SSS, and −0.68 vs. −0.31 for FSS, respectively (p < 0.01). Moreover, these findings correlated positively with the global improvement (CGI-I) between the groups. The addition of ipidacrine to basic therapy led to improved recovery in patients with CTSs of varying severity. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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8 pages, 1234 KiB  
Case Report
Additional Rehabilitative Robot-Assisted Gait Training for Ambulation in Geriatric Individuals with Guillain–Barré Syndrome: A Case Report
by Fred Yi-Shueh Chen, Wen-Hsuan Hou, Hsun-Hua Lee, Ying-Chi Huang and Co Yih Siow
Medicina 2024, 60(8), 1209; https://doi.org/10.3390/medicina60081209 - 26 Jul 2024
Cited by 1 | Viewed by 2758
Abstract
We present a case of a 75-year-old Asian woman with Guillain–Barré syndrome (GBS) who underwent a 1-month comprehensive rehabilitation training program supplemented by robot-assisted gait training (RAGT). GBS can lead to fatigue and prolonged bed rest, thereby further debilitating older patients. Although exercise [...] Read more.
We present a case of a 75-year-old Asian woman with Guillain–Barré syndrome (GBS) who underwent a 1-month comprehensive rehabilitation training program supplemented by robot-assisted gait training (RAGT). GBS can lead to fatigue and prolonged bed rest, thereby further debilitating older patients. Although exercise intervention is recommended for GBS, a consensus regarding the appropriate intensity has yet to be established. Individualized strategies are required because older patients experience varying levels of fatigue and frailty. We used a technological adjunct to support comprehensive rehabilitation for GBS reconditioning in an older patient. To the best of our knowledge, research involving the use of an exoskeleton robotic device in the geriatric population with GBS is limited. Our case demonstrates the feasibility and safety of RAGT for improving lower limb muscle power and scores on the Barthel Index, Clinical Frailty Scale, and Instrumental Activities of Daily Living Scale at discharge from a geriatric ward. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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8 pages, 1664 KiB  
Case Report
Manual Therapy of Dysphagia in a Patient with Amyotrophic Lateral Sclerosis: A Case Report
by Ilaria De Marchi, Francesca Buffone, Alessandro Mauro, Irene Bruini and Luca Vismara
Medicina 2024, 60(6), 845; https://doi.org/10.3390/medicina60060845 - 22 May 2024
Cited by 1 | Viewed by 2906
Abstract
Amyotrophic lateral sclerosis (ALS) is an incurable rare neurodegenerative condition, with 45% of cases showing the symptom of dysphagia; its clinical signs are atrophy, weakness, and fasciculations of the facial muscles, tongue, and pharynx. Furthermore, dysphagia is the main cause of aspiration pneumonia. [...] Read more.
Amyotrophic lateral sclerosis (ALS) is an incurable rare neurodegenerative condition, with 45% of cases showing the symptom of dysphagia; its clinical signs are atrophy, weakness, and fasciculations of the facial muscles, tongue, and pharynx. Furthermore, dysphagia is the main cause of aspiration pneumonia. The traditional treatment for dysphagia varies based on the patient’s difficulty of swallowing. The initial phase consists of dietary consistency adjustments, progressing to alternatives like nasogastric tubes or percutaneous endoscopic gastrostomy (PEG) in advanced stages. Osteopathic manipulative treatment (OMT) is a complementary ‘hands-on’ approach that has already shown positive results as an add-on therapy in various health conditions. This study is a case report of a man diagnosed with ALS with initial dysphagia, managed with a protocol that extraordinarily included OMT. The patient showed somatic dysfunctions in the mediastinal region, upper cervical region, and occipital area which are all anatomically related to the nervous system, especially the glossopharyngeal reflex. At the end of the rehabilitation protocol, there was a reduction in the swallowing problems measured with Strand Scale and swallowing tests, and the patient reported an improved psycho-physical well-being assessed with the Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-40). Instead, the neurological function measured with ALSFRS-S remained stable. Although the nature of this study design prevents any causal assumption, the positive results should lead to future randomized controlled trials to assess the effectiveness of OMT as an adjunctive therapeutic proposal to improve the health of ALS patients. Full article
(This article belongs to the Special Issue Neuromuscular Disorders: Diagnostical Approaches and Treatments)
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