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

📄 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

📄 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

📄 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

📄 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