📄 From our special issue on RNA therapeutics: A study examining cardiac outcomes in DMD treated with the exon-skipping therapy eteplirsen. Treated patients showed slower LVEF decline and lower risk of reaching cardiac dysfunction thresholds. buff.ly/ycbsqVl #DMD #RNATherapeutics #ExonSkipping

📄 Next from the JND special issue on RNA therapeutics: A focused review of real-world evidence for nusinersen in #SMA. Across thousands of treated patients worldwide, data supports sustained motor benefits and a favourable safety profile. Read it here: buff.ly/WISRWey #Neuromuscular #RareDisease

From the JND special issue on RNA therapeutics: Aartsma-Rus & Takeda examine the development of ASO therapies for #Duchenne muscular dystrophy and #SMA. The article highlights scientific, clinical and regulatory lessons for future therapies. Read it here: buff.ly/rJJb5N7 #Neuromuscular #DMD #SMA

🧬 New Special Issue of JND out today to celebrate #RareDiseaseDay: “RNA Therapeutics in Neuromuscular Disorders” Exploring RNA-targeted approaches in Duchenne muscular dystrophy, Spinal muscular atrophy, Myotonic dystrophy and more: buff.ly/JOtdEJb #Neuromuscular #RNAtherapeutics #DMD #SMA #DM1

🎧 New podcast out now! Prof Laurent Servais (joining us from a busy airport) chats with Dr Grace McMacken about the future of newborn screening for neuromuscular disorders. 👉 Listen here: buff.ly/zLMcu3B #SMA #Neuromuscular #NewbornScreening

🫀 Myocarditis is a serious risk after gene therapy for Duchenne muscular dystrophy (DMD). In this new review paper, Kaufman et al. call for proactive cardiac monitoring & risk stratification to safeguard patients receiving AAV-based therapies. #DMD #GeneTherapy #Myocarditis 🔗 buff.ly/mhlJVGK

Knowledge on early motor milestones in #DMD is limited, but this is essential given increasing newborn screening and earlier age groups in clinical trials. 📑 This research study by Lowes et al sheds new light on DMD in <5 year age group. ➡️ Full report here buff.ly/x1Y7sCl

From our latest issue 🆕 research from @uottawa.bsky.social demonstrating peripheral effects before motor neuron loss in the #SMA 2B/- mouse model. Read the #openaccess paper here: buff.ly/51H530o #spinalmuscularatrophy #neuromuscularjunction

New insights into LAMA2 related dystrophies using international registry data @cureCMD - essential info on early clinical findings and natural history. Check out the full #openaccess paper here buff.ly/1zO5RUn

New #openaccess review by Dangouloff et al covers newborn screening (NBS) for neuromuscular diseases like SMA, Duchenne, Pompe, and X-ALD. Early diagnosis is crucial for effective treatment, but NBS is still underused. Read more: buff.ly/tIqTeZy #Genomics #RareDiseases

New original research from Manon et al provides novel insights into #myotonicdystrophy type 2, from the Dutch neuromuscular database. Their study shows ncreased risk of cardiac disease, pneumonia, and malignancies. Read the full report here: buff.ly/LhquCrS

NEW research paper in JND = open label extension study of the neonatal Fc receptor inhibitor Rozanolixizumab #MyastheniaGravis: - Clinically meaningful and consistent improvement - Acceptable safety profile - Beneficial in AChR and MuSK MG Read the report here journals.sagepub.com/doi/full/10....

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

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

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

How many countries are screening newborns for #SMA? 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

The latest issue of JND can be found here: journals.sagepub.com/toc/JND/curr... Here you can also find the author and submission guidelines, editorial board and further journal statistics.