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The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research

This issue marks the 10th anniversary of the Journal of Neuromuscular Diseases (JND) that we – as Co-Editors-in-Chief – helped inaugurate in 2014. Ten years ago, we were encouraged both by colleagues and by market research of the publisher IOS Press that a new journal focused on translational research in neuromuscular disorders would be welcome by the community and fill a space between the more clinically oriented and the more basic science publications. Looking back we feel we have made the right call to accept this invitation, as the last years brought major scientific progress towards translation in the neuromuscular diseases, including next generation exome, genome and RNA sequencing for gene discovery and better and more precise diagnostic yield, an increasing importance and number of both preclinical and clinical studies for better therapies, often based on genetic mechanisms and finally the marketing approval of several disease-modifying genetic treatments in spinal muscular atrophy, Duchenne muscular dystrophy and amyloid neuropathy among others.

This rapid and unprecedented development in our field was accompanied by the growth of our journal with more than 600 peer-reviewed articles to date included in a total of 58 issues, a year-on-year, steady increase of about 15% in the number of articles and the move from 4 issues per year to 6 issues in 2021, supported by an outstanding editorial board. Some of the journal’s milestones were the indexation in Pubmed/Medline (2016), the indexation in Web of Science (2021), the first impact factor of 4.693 (2022), and the transfer to full Open Access (2023). While the journal became an asset to the neuromuscular community, it partnered with professional organisations (TREAT NMD, EURO-NMD) and conferences (ICNMD, eNMD, OttawaNMD, MyoMRI) to support their publishing needs. The journal also covered a range of special issues on specific themes led by guest editors: Commemorating The Inauguration of The John Walton Muscular Dystrophy Research Centre (2015); Commemorating Terry Partridge (2021); The Null Hypothesis Stands (2021); Treatment and Treatabolome in NMDs (2021).

More than 100 articles each covered research on Duchenne muscular dystrophy and spinal muscular atrophy, reflecting the large number of clinical trials and post-marketing research in two of the most common paediatric neuromuscular disorders. Adult neuromuscular diseases followed closely with myotonic dystrophy, myasthenia gravis, amyotrophic lateral sclerosis and polyneuropathy covered by 30–50 articles each. Those studies include 83 articles using animal models, the majority in mice, 57 studies describing clinical trials, 50 natural history studies and 96 including genetic research. While most articles originate from research institutions, hospitals and industry in Europe, Japan and North America, some of our recent publications were from Lebanon, Kazakhstan, Thailand, Iran and India [1–6]. We are very grateful to the many authors, reviewers and associate editors, without whom none of this would have been possible. One of the authors commented recently “I think you are doing an amazing job with the journal, it Is really an added value to the field”. We are particularly proud of our expert reviews, led by Associate Editors Gisèle Bonne and Shin’ichi Takeda, which include some of our most-read and best-cited publications providing insights from the top experts in epidemiology of neuromuscular disorders, the classification of myositis, advances in spinal muscular atrophy, use of MRI in neuromuscular research and genomics to decipher some of the largest genes in the human genome [7–11], just to name a few.

Recent trends include an increasing number of publications on outcome measures, biomarkers, clinical trials, natural history, quality of life, and registry studies across a range of neuromuscular diseases. These include well-read and cited publications on splice active antisense oligonucleotides in DMD, use of the stride velocity 95 centile as an EMA-approved outcome measure in DMD, long-term natural history in Becker muscular dystrophy, neurofilament levels as a biomarker in treatment of adults with SMA [12–15], among others. Going forward we are planning to establish a new feature “clinical trials corner” to respond more quickly to emerging, not fully published results from clinical trials.

Special thanks to our social media editors, Emily O’Connor (until 2021) and Grace McMacken, who racked up 2347 Facebook followers and 1837 Twitter/X followers to date. The latest feature, our podcast highlighted two exciting publications in 2023, the first one by Carsten Bönnemann on the challenges of gene therapy [16], the second one by Angela Abicht on advancements in genomic diagnosis of SMA [17]. Podcasts, articles in press and back issues are available on our website ( The editorial staff at IOS Press, Rasjel van der Holst, David Weedon and Eileen Leahy, have provided constant support and reassurance to us as editors as well as our authors and readers.

The last decade has been exciting for preclinical and clinical translational neuromuscular research, coinciding with the first 10 years of JND. We are proud to have been part of this journey and are looking forward to another decade of growing the journal and serving the neuromuscular community with high-quality publications on preclinical and clinical translational research, now under the new roof of Sage Publications, which has recently acquired IOS Press. We are always happy to hear from our authors and readers directly.



Siddiqui S , Polavarapu K , Bardhan M , Preethish-Kumar V , Joshi A , Nashi S , Vengalil S , Raju S , Chawla T , Leena S , Mathur A , Nayak S , Mohan D , Shamim U , Prasad C , Lochmüller H , Faruq M , Nalini A . Distinct and recognisable muscle MRI pattern in a series of adults harbouring an identical GMPPB gene mutation. J Neuromuscul Dis. (2022) ;9: (1):95–109. doi: 10.3233/JND-200628.


Unnikrishnan G , Polavarapu K , Bardhan M , Nashi S , Vengalil S , Preethish-Kumar V , Valasani RK , Huddar A , Nishadham V , Nandeesh BN , Nalini A . Phenotype genotype characterization of FKRP-related muscular dystrophy among indian patients. J Neuromuscul Dis. (2023) ;10: (4):615–26. doi: 10.3233/JND-221618.


Megarbane A , Bizzari S , Deepthi A , Sabbagh S , Mansour H , Chouery E , Hmaimess G , Jabbour R , Mehawej C , Alame S , Hani A , Hasbini D , Ghanem I , Koussa S , Al-Ali MT , Obeid M , Talea DB , Lefranc G , Lévy N , Leturcq F , El Hayek S , Delague V , Urtizberea JA . A 20-year clinicaland genetic neuromuscular cohort analysis in lebanon: Aninternational effort. J Neuromuscul Dis. (2022) ;9: (1):193–210. doi: 10.3233/JND-210652.


Kulsirichawaroj P , Suksangkharn Y , Nam DE , Pho-Iam T , Limwongse C , Chung KW , Sanmaneechai O , Zuchner SL , Choi BO . Gene distribution in pediatric-onset inherited peripheral neuropathy: A single tertiary center in thailand. J Neuromuscul Dis. (2024) ;11: (1):191–9. doi: 10.3233/JND-230174.


Mansouri V , Heidari M , Bemanalizadeh M , Azizimalamiri R , Nafissi S , Akbari MG , Barzegar M , Moayedi AR , Badv RS , Mohamadi M , Tavasoli AR , Amirsalari S , Khajeh A , Inaloo S , Fatehi F , Hosseinpour S , Babaei M , Hosseini SA , Mahdi Hosseiny SM , Fayyazi A , Hosseini F , Toosi MB , Khosroshahi N , Ghabeli H , Biglari HN , Kakhki SK , Mirlohi SH , Bidabadi E , Mohammadi B , Omrani A , Sedighi M , Vafaee-Shahi M , Rasulinezhad M , Hoseini SM , Movahedinia M , Rezaei Z , Karimi P , Farshadmoghadam H , Anvari S , Yaghini O , Nasiri J , Zamani G , Ashrafi MR . The first report of iranian registry of patients with spinal muscular atrophy. J Neuromuscul Dis. (2023) ;10: (2):211–25. doi: 10.3233/JND-221614.


Jaxybayeva A , Chunkayeva D , Myrzaliyeva B , Ayaganov D , Lepessova M , Bulekbayeva S , Idrissova Z , Mukhambetova G , Bayanova M , Malfatti E , Urtizberea A . Duchenne muscular dystrophy in kazakhstan: A journey from diagnosis to the treatment, the biases and achievements. J Neuromuscul Dis. (2023) ;10: (2):263–9. doi: 10.3233/JND-221559.


Deenen JC , Horlings CG , Verschuuren JJ , Verbeek AL , van Engelen BG . The epidemiology of neuromuscular disorders: A comprehensive overview of the literature. J Neuromuscul Dis. (2015) ;2: (1), 73–85.


Schmidt J . Current classification and management of inflammatory myopathies. J Neuromuscul Dis. (2018) ;5: (2):109–29. doi: 10.3233/JND-180308.


Schorling DC , Pechmann A , Kirschner J . Advances in treatment of spinal muscular atrophy – new phenotypes, new challenges, new implications for care. J Neuromuscul Dis. (2020) ;7: (1):1–13. doi: 10.3233/JND-190424.


Carlier PG , Marty B , Scheidegger O , Loureiro de Sousa P , Baudin PY , Snezhko E , Vlodavets D . Skeletal muscle quantitative nuclear magnetic resonance imaging and spectroscopy as an outcome measure for clinical trials. J Neuromuscul Dis. (2016) ;3: (1):1–28. doi: 10.3233/JND-160145.


Savarese M , Sarparanta J , Vihola A , Udd B , Hackman P . Increasing role of titin mutations in neuromuscular disorders. J Neuromuscul Dis. (2016) ;3: (3):293–308. doi: 10.3233/JND-160158.


Mitelman O , Abdel-Hamid HZ , Byrne BJ , Connolly AM , Heydemann P , Proud C , Shieh PB , Wagner KR , Dugar A , Santra S , Signorovitch J , Goemans N ; investigators from the LNMRC Natural History study; McDonald CM; investigators from the CINRG Duchenne National History Study; Mercuri E; investigators from The DMD Italian Group; Mendell JR. A combined prospective and retrospective comparison of long-term functional outcomes suggests delayed loss of ambulation and pulmonary decline with long-term eteplirsen treatment. J Neuromuscul Dis. (2022) ;9: (1):39–52. doi: 10.3233/JND-210665.


Clemens PR , Rao VK , Connolly AM , Harper AD , Mah JK , McDonald CM , Smith EC , Zaidman CM , Nakagawa T ; CINRG DNHS Investigators; Hoffman EP. Long-term functional efficacy and safety of viltolarsen in patients with duchenne muscular dystrophy. J Neuromuscul Dis. (2022) ;9: (4):493–501. doi: 10.3233/JND-220811.


Clemens PR , Gordish-Dressman H , Niizawa G , Gorni K , Guglieri M , Connolly AM , Wicklund M , Bertorini T , Mah J , Thangarajh M , Smith EC , Kuntz NL , McDonald CM , Henricson E , Upadhyayula S , Byrne B , Manousakis G , Harper A , Iannaccone S , Dang UJ . Findings from the longitudinal CINRG becker natural history study. J Neuromuscul Dis. (2024) ;11: (1):201–12. doi: 10.3233/JND-230178.


Servais L , Yen K , Guridi M , Lukawy J , Vissière D , Strijbos P . Stride velocity 95th centile: Insights into gaining regulatory qualification of the first wearable-derived digital endpoint for use in duchenne muscular dystrophy trials. J Neuromuscul Dis. (2022) ;9: (2):335–346. doi: 10.3233/JND-210743.


Lek A , Atas E , Hesterlee SE , Byrne BJ , Bönnemann CG . Meetingreport: muscular dystrophy association summit on ‘safety andchallenges in gene transfer therapy’. J Neuromuscul Dis. (2023) ;10: (3):327–336. doi: 10.3233/JND-221639.


Kleinle S , Scholz V , Benet-Pagés A , Wohlfrom T , Gehling S , Scharf F , Rost S , Prott EC , Grinzinger S , Hotter A , Haug V , Niemeier S , Wiethoff-Ubrig L , Hagenacker T , Goldhahn K , von Moers A , Walter MC , Reilich P , Eggermann K , Kraft F , Kurth I , Erdmann H , Holinski-Feder E , Neuhann T , Abicht A . Closing the gap - detectionof 5q-spinal muscular atrophy by short-read next-generationsequencing and unexpected results in a diagnostic patient cohort. JNeuromuscul Dis. (2023) ;10: (5):835–846. doi: 10.3233/JND-221668.