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Updates on Neuromuscular Diseases

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

Deadline for manuscript submissions: 20 August 2026 | Viewed by 836

Special Issue Editor


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Guest Editor
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 (1 paper)

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Research

11 pages, 573 KB  
Article
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
Viewed by 528
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 [...] Read more.
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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