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Journal of Neuromuscular Diseases @journal_nd

JND | Dedicated to expediting our understanding & improving treatments of neuromuscular diseases | Editors: Carsten G. Bönnemann & Hanns Lochmüller

Joined July 2018
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The Journal of Neuromuscular Diseases can now be found on Bluesky. Find us and connect at @journalnd.bsky.social. bsky.app/profile/journalnd.b… #neuromusculardisorders #journal_nd
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📄 New study in JND: Therapeutic inertia in #MyastheniaGravis is common ~80% of neurologists failed to escalate treatment in ≥2 scenarios. Key drivers: • Resistance to new therapies • Low organisational support Full report here: buff.ly/TuupmaU
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📄 New review in JND: Somatic instability in DM1 CTG repeat expansions: • Grow over time • Vary by tissue (muscle > blood) • Are shaped by DNA repair (MMR, FAN1) Read the open access review here: buff.ly/VcelXQu #DM1 #RepeatExpansion #Genetics #RareDisease
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📄 New in Journal of Neuromuscular Diseases: Sirolimus may help manage steroid-refractory hepatotoxicity following #AAV gene therapy in #DMD. In 4 cases, liver enzymes improved, allowing steroid tapering. Important insights for safety & monitoring: buff.ly/otZi5hl
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📄 New in JND Muscle MRI detects early, subtype-specific patterns in idiopathic inflammatory myopathies: buff.ly/ihGdZJG ✔️ Distinct signatures across IBM, DM, PM, ASYS, IMNM ✔️ Correlates with muscle strength & CK #Myositis #MRI #Neuromuscular
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New in JND Expanded characterization of autosomal recessive HMGCR-related limb-girdle muscular dystrophy. 🧬 6 families, 11 patients 🧬 3 novel variants identified 🧬 Broader phenotype incl. congenital onset & liver involvement buff.ly/UhlmShr #LGMD #RareDisease
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📄 New study: A novel implantable catheter–port (ThecaFlex DRx) enables repeated intrathecal delivery of nusinersen in SMA. ✔️ 100% implantation success ✔️ 92% received treatment via device ✔️ Promising early safety profile buff.ly/Fwf37nT #SMA #Nusinersen #Neurology
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📄 New review in JND How satellite cells are central to muscle regeneration and a growing class of disorders termed satellite cell-opathies, plus their emerging therapies. Read the full review here: buff.ly/n5brzO7 #Neuromuscular
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📄 New research in JND: The phase 3 REACH trial evaluated losmapimod in FSHD While the study did not meet its primary endpoint, losmapimod was well tolerated, with insights that may guide future trials. buff.ly/vVwusOF #FSHD #Neuromuscular #RareDisease
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📄 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
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📄 Next from the JND special issue on RNA therapeutics: A focused review of real-world evidence for nusinersen in #SMA. Data supports sustained motor benefits and a favourable safety profile, Read it here: buff.ly/WISRWey #RNATherapeutics #Neuromuscular

Real-world evidence on nusinersen treatment of persons with SMA: a focused review - Susan E...

Nusinersen is a designer drug for spinal muscular atrophy (SMA) and was the first approved treatment for this once deadly disease. It is an antisense oligonucle...

journals.sagepub.com
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From the JND special issue on RNA therapeutics: Aartsma-Rus & Takeda examine the development of ASO therapies for #Duchenne muscular dystrophy and #SMA. Read the paper here: buff.ly/rJJb5N7 #Neuromuscular #RNAtherapeutics #DMD #SMA
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🧬 New Special Issue of JND out today celebrating #RareDiseaseDay: “RNA Therapeutics in Neuromuscular Disorders” RNA-targeted approaches in Duchenne muscular dystrophy, Spinal muscular atrophy, Myotonic dystrophy and more: buff.ly/56IOm0I #Neuromuscular #DMD #SMA #DM1
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🎧 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
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🫀 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
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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
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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
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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
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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
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📣 🆕 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
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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/ful…
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