Updates on Neuromuscular Diseases

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. Dr. Menachem Sadeh
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.