Journal of Neuromuscular Diseases

The Journal of Neuromuscular Diseases can now be found on Bluesky. Find us and connect at @journalnd.bsky.social. bsky.app/profile/journa… #neuromusculardisorders #journal_nd

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

🫀 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. 🔗 buff.ly/mhlJVGK

Knowledge on early motor milestones in #DMD is limited, but this is essential given increasing newborn screening and earlier ages 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

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

📣 🆕 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 #JournalND = open label extension study of Rozanolixizumab #MyastheniaGravis: -Clinically meaningful and consistent improvement -Acceptable safety profile -Beneficial in AChR and MuSK MG Full report here journals.sagepub.com/doi/full/10.11…

POTW 15: Antisense RNA Therapies for inherited myopathies published in @journal_nd by @oligogirl and others. Great overview of the current state and their potential. doi.org/10.1177/221436…

🚀 TREAT-NMD Duchenne Industry Day 💡✨ 📍 Prague | A key event for pharma & biotech professionals to explore: ✅ Outcome measures ✅ Genetic & treatment advancements ✅ International standards of care Engage, learn & connect with experts! 🔗tickettailor.com/events/treatnm… #TREATNMD

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: journals.sagepub.com/doi/full/10.11…

New research by Hayes et al. - the "semitendinosus sign" can be a useful diagnostic tool in titin-related myopathy. Read the full paper here: journals.sagepub.com/doi/epub/10.11…

📊 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: journals.sagepub.com/doi/epub/10.11… #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: journals.sagepub.com/doi/full/10.11…

➡️#EURONMD webinar w/ @ERN_RND & @EANeurology 📚"Electron microscopy for myopathies" delivered by Prof. Giovanna Cenacchi (University of Bologna, Policlinico di Sant'Orsola, Italy) 📆Nov 14th 2024 at 16:00 CET Register here 👉bit.ly/4eHp2xr

🚨 ICNMD 2024 Abstracts Are Out! 🚨 Explore the latest breakthroughs in neuromuscular diseases. The full abstracts for the International Congress on Neuromuscular Diseases (ICNMD) are now available open access. Check them out! 👇 journals.sagepub.com/doi/epub/10.11… #ICNMD2024 #OpenAccess

💻 Upcoming #ernRND joint webinar w/@euro_nmd @EANeurology 📚 Clinical Neurophysiology in Dystonia 📅 24 September, 3 – 4 pm CEST 🗣️Anke Snijders, Radboud University Medical Center, Netherlands Sign up👉t1p.de/w11ix

Pilot study in “Journal of Neuromuscular Diseases” shows promise for assessing neurobehavioral difficulties. News: bit.ly/PR_JND_11-4 Article: Development and Pilot Validation of the DuMAND Checklist content.iospress.com/articles/journ… - IOS Press #duchennemusculardystrophy #DMD

📣 Have you listened yet? JND podcast episode 3 is OUT! Discussing the latest in #stemcell #neuromuscular research. Listen on Spotify here ➡️ open.spotify.com/episode/4vcTcY…

🧠Excited to share our latest publication in the @journal_nd on congenital myopathies from @NIMHANS_BLR 🇮🇳 🔑findings: Centronuclear myopathy is the most common subtype. RYR1 & DNM2 are the predominant genetic variants.Novel mutations were found in 30.3% of cases. @AANmember