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

Deadline for manuscript submissions: 25 April 2027 | Viewed by 2427

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Prof. Menachem Sadeh

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1. Department of Neurology, Wolfson Medical Center, Holon, Israel
2. Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel
Interests: neuromuscualr disorders; myopathies; neuropathies; neuromuscualr junction disorders

Special Issue Information

Dear Colleagues,

The field of neuromuscular diseases has entered a transformative era, transitioning from predominantly palliative care to a proactive, disease-modifying paradigm. Major scientific advances, including gene replacement therapies, antisense oligonucleotides, FcRn inhibitors, and other disease-modifying treatments, have substantially altered the therapeutic landscape for conditions such as spinal muscular atrophy (SMA), Duchenne muscular dystrophy, and amyotrophic lateral sclerosis (ALS). Notably, the first intrathecal gene therapy for older children and adults with SMA has received regulatory approval, and a recent breakthrough with a myostatin-targeting antibody has demonstrated significant improvements in muscle mass and strength in SMA patients. Parallel progress has occurred in diagnostics. The identification of specific nodal and paranodal antibodies has enabled recognition of rare subtypes of inflammatory neuropathies that were previously misdiagnosed as conventional CIDP. Neurofilament light chain, once confined to research settings, has emerged as a reliable clinical biomarker of axonal damage. In addition, comprehensive gene panels testing hundreds of neuromuscular-related genes have replaced the traditional “one-gene-at-a-time” approach. The adoption of long-read sequencing technologies allows accurate detection and quantification of pathogenic repeat expansions in disorders such as myotonic dystrophy and spinocerebellar ataxias. In this Special Issue, we invite authors to submit original research and reviews addressing these and other advances in the diagnosis and treatment of neuromuscular diseases.

Prof. Menachem Sadeh
Guest Editor

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Keywords

neuromuscualr disorders
myopathies
neuropathies
neuromuscualr junction disorders
neurogenetics

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Published Papers (4 papers)

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Research

Jump to: Review

15 pages, 2705 KB

Open AccessArticle

Characterization of Muscle Synergies During Activities of Daily Living Using Surface EMG: A Functional Reference for Neuromuscular Assessment

by Ana Poveda-García, Elisabet Huertas-Hoyas, Cristina García-Bravo, Jorge Pérez-Corrales, Mª Pilar Rodríguez-Pérez and Elisa Bullón-Benito

J. Clin. Med. 2026, 15(13), 5268; https://doi.org/10.3390/jcm15135268 - 6 Jul 2026

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Abstract

Background/Objectives: The muscle synergy framework suggests that the central nervous system simplifies hand motor control by recruiting coordinated groups of muscles. However, the organization of these synergies across functional grasp types representative of activities of daily living remains incompletely understood. This study aimed to characterize muscle synergies across functional grasps and identify shared coordination patterns relevant for neuromuscular assessment. Methods: Muscle synergies were analysed in 26 healthy participants using a publicly available surface electromyography dataset. Five representative functional grasp types were selected, (cylindrical, lateral pinch, lumbrical, oblique, and tridigital pinch) and synergies were extracted using non-negative matrix factorization. Results: Four to five muscle synergies accounted for more than 90% of EMG variance across all grasp types. Despite grasp-specific differences, a consistent set of shared synergies was identified across conditions, explaining 92.5% of the total variance and being flexibly modulated depending on task demands. Extensor-related components showed a particularly consistent contribution across grasps. Conclusions: Functional hand grasping relies on a compact and reusable set of muscle synergies that are flexibly adapted to task demands. These findings support a modular organization of neuromuscular control and provide normative references that may be useful for the assessment of altered motor control in neuromuscular disorders, with potential applications in neurorehabilitation and assistive technologies. Full article

(This article belongs to the Special Issue Updates on Neuromuscular Diseases)

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11 pages, 573 KB

Open AccessArticle

Slower Progression Rates in Lower Limb-Onset ALS

by Yehuda Shovman, Yossef Lerner and Marc Gotkine

J. Clin. Med. 2026, 15(8), 3096; https://doi.org/10.3390/jcm15083096 - 18 Apr 2026

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Abstract

Objectives: The aim of this study was to assess the differences in diagnostic delay and disease progression in people with ALS (PALS) based on site of onset. Methods: A retrospective analysis of prospectively collected data was performed, including all PALS seen in the ALS clinic in the Hadassah Medical Center between January 2009 and March 2022. PALS were divided to three groups based on site of onset (upper limb onset—ULO, lower limb onset—LLO, or bulbar onset—BO). A linear mixed-effects model was constructed with the following variables: diagnostic delay, site of onset, age of onset and time since the initial visit. The model was applied to the ALSFRS-R total score and the bulbar and motor subscales. Results: Data from 1255 visits of 281 PALS were included in the study. PALS with LLO had longer diagnostic delays than PALS in the BO group. Slower decline of total ALSFRS-R score was observed in younger PALS, and in PALS with LLO when compared with PALS with BO or ULO. The slower decline of ALSFRS-R in PALS with LLO was due to a slower decline in the motor subscale. Longer diagnostic delays were associated with lower total ALSFRS-R scores at the initial visit and with slower rates of decline. Conclusions: Comparison among PALS with ULO, LLO and BO revealed differences in the diagnostic delay and in the rate of functional decline, suggesting that differentiating between ULO and LLO ALS may be useful in the stratification of PALS in clinical trials. Full article

(This article belongs to the Special Issue Updates on Neuromuscular Diseases)

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Review

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23 pages, 9739 KB

Open AccessReview

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine—A Review

by Menachem Sadeh and Ron Dabby

J. Clin. Med. 2026, 15(15), 5906; https://doi.org/10.3390/jcm15155906 - 29 Jul 2026

Viewed by 358

Abstract

This review examines the evolving role of muscle biopsy in the diagnosis of neuromuscular disorders in the era of modern genomic medicine. Historically the cornerstone of myopathy diagnosis, muscle biopsy enabled structural, histochemical, and ultrastructural characterization of muscle diseases. However, the introduction of next-generation sequencing and other genomic technologies has shifted the diagnostic paradigm, with genetic testing now serving as the preferred first-line approach for many hereditary myopathies due to its non-invasive nature and high diagnostic yield. However, muscle biopsy remains indispensable in the evaluation of inflammatory, toxic, metabolic, mitochondrial, and certain rare acquired myopathies. Biopsy is also valuable when genetic testing is inconclusive, particularly for interpreting variants of uncertain significance, through histopathological, immunohistochemical, and biochemical analyses. In certain disorders, diagnosis may rely primarily on biopsy findings. Emerging technologies, including RNA sequencing, transcriptomics, proteomics, spatial transcriptomics, and artificial intelligence-assisted pathology, are expanding the diagnostic value of muscle tissue beyond traditional morphological assessment. Rather than being replaced by genomic medicine, muscle biopsy is evolving into a complementary component of an integrated diagnostic strategy that combines clinical, pathological, and molecular data to improve diagnostic accuracy and guide precision medicine in neuromuscular disorders. Full article

(This article belongs to the Special Issue Updates on Neuromuscular Diseases)

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13 pages, 579 KB

Open AccessReview

From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I

by Cristina Isabel Díaz-López and Rocío Palomo-Carrión

J. Clin. Med. 2026, 15(14), 5673; https://doi.org/10.3390/jcm15145673 - 20 Jul 2026

Viewed by 279

Abstract

Background: Disease-modifying therapies have profoundly changed the natural history of spinal muscular atrophy (SMA) type I, shifting rehabilitation priorities beyond survival and motor function toward participation, autonomy, and quality of life. However, rehabilitation models have not evolved at the same pace, and the role of early powered mobility in this new clinical scenario remains insufficiently conceptualized. Methods: This narrative review integrates current evidence on early powered mobility in children with severe motor disabilities with contemporary rehabilitation frameworks, including the International Classification of Functioning, Disability and Health (ICF), participation-based therapy, family-centered care, and the concept of on-time mobility. Evidence from the AMEsobreRuedas research program is incorporated to develop a conceptual framework for early powered mobility in children with SMA type I receiving disease-modifying therapies. Results: Current evidence suggests that early powered mobility should be understood as a developmental rehabilitation intervention rather than solely as an assistive technology for transportation. Independent mobility facilitates exploration, play, social interaction, autonomy, and participation, while positively influencing family experiences and expectations. Findings from the AMEsobreRuedas program further indicate that the benefits of powered mobility extend beyond driving skill acquisition, supporting participation, quality of life, and family well-being when implemented within meaningful daily contexts. Based on this evidence, a conceptual framework is proposed in which independent mobility acts as an early facilitator of developmental opportunities, with participation emerging through the interaction between the child, family, and environment. Conclusions: In the era of disease-modifying therapies, rehabilitation in SMA should move from a motor-centered approach toward a participation-oriented model. Early powered mobility represents a key intervention for promoting developmental opportunities and meaningful participation rather than simply compensating for motor impairment. The proposed conceptual framework may support clinical decision making and provide a foundation for future rehabilitation research in pediatric neuromuscular disorders. Full article

(This article belongs to the Special Issue Updates on Neuromuscular Diseases)

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