Journal of Neuromuscular Diseases

28/02/2025

🚀 TREAT-NMD Duchenne Muscular Dystrophy Industry Day! 💡✨

Location: Prague
Date: July 11th, 2025

A key event for pharma & biotech professionals—whether new to Duchenne or looking to expand expertise. Gain practical insights and connect with key opinion leaders on:

✅ Outcome measures
✅ Genetic & treatment advancements
✅ International standards of care

Engage in collaborative discussions, tackle challenges, and celebrate progress in the field. A unique opportunity to learn, network, and drive innovation!

🔗 https://www.tickettailor.com/events/treatnmd/1502662

26/02/2025

The power of collaboration and data sharing for . The data from this report from is from more than 1700 patients with type 2, the largest cohort ever reported. Read it in full here:

Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), whic...

24/02/2025

New research by Hayes et al. - the "semitendinosus sign" can be a useful diagnostic tool in titin-related myopathy. Read the full paper here:

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20/02/2025

📊 In a first of its kind study, Ashrafi et al. compares real-world efficacy of oral risdiplam vs intrathecal nusinersen in 125 children with SMA type 2 and 3 over 6 months. Key findings:

- Both drugs showed significant improvements in HFMSE and RULM scores
- No statistically significant difference between treatments after adjusting for baseline characteristics
- ~76% of patients achieved clinically meaningful improvement (≥3 points) on HFMSE

Read the full report here: https://journals.sagepub.com/doi/epub/10.1177/22143602241288087

17/02/2025

How many countries are screening newborns for ? A new paper by Vrščaj et al surveys 86 experts from 80 countries on current implementation, therapy access, and future projections. Read the full paper here: https://journals.sagepub.com/doi/full/10.1177/22143602241288095

10/02/2025

The Journal of Neuromuscular Diseases can now be found on Bluesky. Find us and connect at bsky.social. https://bsky.app/profile/journalnd.bsky.social

Facilitates progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic NDMs. Editors: Carsten Bönnemann and Hanns Lochmüller. https://journals.sagepub.com/home/JND

10/02/2025

The latest issue is available here: Volume 11, number 6: https://journals.sagepub.com/toc/jnda/11/6

Table of contents for Journal of Neuromuscular Diseases, 11, 6, Nov 01, 2024

23/10/2024

📢 ICNMD 2024 Abstracts Now Available! 🧬✨

As we prepare for the International Congress on Neuromuscular Diseases (ICNMD) from October 25-29, 2024, we’re excited to announce that the full conference abstracts are now published and available open access! 🌐

Explore the latest research and innovations in neuromuscular diseases, from molecular genetics to cutting-edge clinical treatments. Dive into the science that’s shaping the future of the field! 🔍📚

Check out the abstracts here: https://journals.sagepub.com/doi/epub/10.1177/22143602241290230

14/08/2024

👉 What if a new screening tool could enhance the way we assess neurobehavioral challenges in children with Duchenne muscular dystrophy (DMD)?

A pilot study using a new screening tool shows promise for assessing neurobehavioral difficulties in children with DMD and improving quality of life for patients and their families. Results appear in the “Journal of Neuromuscular Diseases”.

➡ View news: https://bit.ly/PR_JND_11-4
➡ View article: https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd240012

24/06/2024

Yavas et al demonstrate the potential therapeutic benefit of increasing IGF-1 signalling for , and the challenges of targeting muscle in vivo
📖 Check out the research paper here https://bit.ly/4cBqy3t

12/06/2024

🎉 Celebrate 15 years of TREAT-NMD's Advisory Committee for Therapeutics! 🎉

Join us on Oct 31 in Boston for a symposium on "Developing Therapies in Rare Neuromuscular Disease." Connect, learn, and engage!

Register Now 👉 https://buytickets.at/treatnmd
Read More 👉 https://www.treat-nmd.org/what-we-do/tact/advisory-committee-for-therapeutics-special-events/

20/02/2024

Partner Post from the RRD-Foundation:
Unlock the Secrets to Managing Metabolic Myopathies! Join us for an immersive 3-day course in the beautiful city of Split, Croatia, from May 16-18, 2024. Led by a team of world-renowned experts, this course offers a unique blend of lectures, case studies, and interactive sessions designed to equip healthcare professionals with the latest insights in metabolic myopathies.

Whether you’re new to the field or looking to update your knowledge, this is an opportunity you won’t want to miss. Spots are limited - secure yours today!

Register now: https://bit.ly/49leXUS