Journal of Neuromuscular Diseases

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

[Journal of Neuromuscular Diseases @journal_nd]

The Journal of Neuromuscular Diseases can now be found on Bluesky. Find us and connect at @journalnd.bsky.social. https://t.co/Ncnk9n93xp
#neuromusculardisorders #journal_nd

[Journal of Neuromuscular Diseases @journal_nd]

📄 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: https://t.co/dKv6uWQD8V

[Journal of Neuromuscular Diseases @journal_nd]

📄 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: https://t.co/HXzJrMu1ag

#DM1 #RepeatExpansion #Genetics #RareDisease

[Journal of Neuromuscular Diseases @journal_nd]

📄 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: https://t.co/LqDTrocqG7

[Journal of Neuromuscular Diseases @journal_nd]

📄 New in JND

Muscle MRI detects early, subtype-specific patterns in idiopathic inflammatory myopathies: https://t.co/PS2nfR42xX

✔️ Distinct signatures across IBM, DM, PM, ASYS, IMNM
✔️ Correlates with muscle strength & CK

#Myositis #MRI #Neuromuscular

[Journal of Neuromuscular Diseases @journal_nd]

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

https://t.co/EzQfcNDCDx

#LGMD #RareDisease

[Journal of Neuromuscular Diseases @journal_nd]

📄 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

https://t.co/SIQjoyZvNL

#SMA #Nusinersen #Neurology

[Journal of Neuromuscular Diseases @journal_nd]

📄 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: https://t.co/SIVSeSBY86

#Neuromuscular

[Journal of Neuromuscular Diseases @journal_nd]

📄 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. https://t.co/2wmo9PZJEn

#FSHD #Neuromuscular #RareDisease

[Journal of Neuromuscular Diseases @journal_nd]

📄 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. https://t.co/NmQ4d7w757

[Journal of Neuromuscular Diseases @journal_nd]

📄 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: https://t.co/109IpPpw7h
#RNATherapeutics #Neuromuscular

[Journal of Neuromuscular Diseases @journal_nd]

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: https://t.co/Yx6GfcuqCk

#Neuromuscular #RNAtherapeutics #DMD #SMA

[Journal of Neuromuscular Diseases @journal_nd]

🧬 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: https://t.co/PnYMRnHNEx

#Neuromuscular #DMD #SMA #DM1

[Journal of Neuromuscular Diseases @journal_nd]

🎧 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: https://t.co/9XsnB4pTCV
#SMA #Neuromuscular #NewbornScreening

[Journal of Neuromuscular Diseases @journal_nd]

🫀 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.
🔗 https://t.co/IOA6P0oG67

[Journal of Neuromuscular Diseases @journal_nd]

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 https://t.co/ra61KKsjUD

[Journal of Neuromuscular Diseases @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: https://t.co/W3tRqPtsph #spinalmuscularatrophy #neuromuscularjunction

[Journal of Neuromuscular Diseases @journal_nd]

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 https://t.co/64YVpp0IjL

[Journal of Neuromuscular Diseases @journal_nd]

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: https://t.co/ZiJeyGvjAp
#Genomics #RareDiseases

[Journal of Neuromuscular Diseases @journal_nd]

📣 🆕 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: https://t.co/WpmDFtYgon

[Journal of Neuromuscular Diseases @journal_nd]

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 https://t.co/7wXPlOlWOm