Orphanet: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of…

🧬 Orphanet has updated the entry for HSPB8 myopathy (ORPHA:476093) to include MFM13 as a synonym! A small but important win for consistency in how this rare myopathy is named + recognized. Helps researchers, clinicians, and patients stay aligned. buff.ly/NaN2pnE
#HSPB8Myopathy #MFM13 #Myofibrillar

Cure HSPB8 - The Podcast | Podcast on RSS.com Welcome to the Cure HSPB8 Podcast, a series dedicated to raising awareness and sharing critical information about HSPB8 Myopathy. This podcast is designed for individuals and families affected by…

🎧 Ep. 2 of the Cure HSPB8 Podcast is live!

This episode unpacks HSPB8 Myopathy – what it is, how it progresses, and the critical role genetic testing plays in diagnosis.
🧬 Available here: buff.ly/szuDROh

#RareDisease #GeneticTesting #HSPB8Myopathy #CureHSPB8 #PodcastLaunch

🎧 New podcast alert!
Cure HSPB8 - The podcast just launched - and Ep. 1 is live!
We’re sharing our story, our mission, and our fight for a life free of HSPB8 Myopathy.
🧬 Listen here: rss.com/podcasts/cur...
#RareDisease #CureHSPB8 #HSPB8Myopathy #PatientAdvocacy #PodcastLaunch

🦄 CureHSPB8 is the only charitable initiative exclusively dedicated to addressing the challenges of #HSPB8Myopathy. Our mission starts with raising awareness and ensuring patients get the correct diagnosis, a key barrier for this rare condition.
Join us in making a difference! 💙 curehspb8.org

🚨 Big news: Cure HSPB8 has received new 2025 funding from @volofoundation.bsky.social!

This support helps us expand research, grow our patient registry, and drive awareness for #HSPB8Myopathy. Grateful for partners who believe in science & impact! 💙

#CureHSPB8 #RareDiseasen #PatientAdvocacy

🚀 Exciting news: We are heading to the #WorldOrphanDrugCongress USA 2025!

We’re on a mission to accelerate research for #HSPB8 #myopathy, a rare and progressive disease with no treatment — yet.

📍 Stop by our poster & let’s connect to make breakthroughs happen!

#RareDisease #HSPB8Myopathy

New review on HSPB8-related neuromuscular disorders just published!

Explore how mutations in HSPB8 contribute to diseases like inclusion body myopathy & distal hereditary motor neuropathy.

📖 Read here: www.mdpi.com/1422-0067/26...

#CureHSPB8 #RareDisease #HSPB8Myopathy #NeuromuscularDisorders

HSPB8 Myopathy We are excited to announce that Cure HSPB8 is now a proud member of the Global Genes Alliance, marking a significant step in our mission to improve the lives of those affected by HSPB8 Myopathy. This ...

CureHSPB8 is a proud member of the Global Genes RARE Foundation Alliance! Together, we’re amplifying awareness and driving research for rare diseases like #HSPB8Myopathy. 💙

Learn more about our partnership here: curehspb8.org/blog/global-...

#RareDisease #PatientAdvocacy #CureHSPB8 #GlobalGenes"

Meet Catherine, whose journey with #HSPB8Myopathy began after seeing symptoms in her father and later experiencing them herself. She stays active with Pilates & water aerobics while holding hope for breakthroughs in research. 💙

Read her story here: curehspb8.org/families/#Pa...

#CureHSPB8

🔬 New research shows piplartine-induced autophagy could reduce axonal degeneration in HSPB8-linked neuropathies like #CMT2 & #HSPB8Myopathy. A step closer to breakthroughs in rare disease therapy!

www.tandfonline.com/doi/full/10....

#RareDiseases #Autophagy #Neuropathy