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