UK Mitochondrial Myopathy-Diagnosis-Treatment Market Forecast 2035 | Diagnosis & Treatment Trends UK Mitochondrial Myopathy-Diagnosis-Treatment Market share register 1175.85 USD Million in 2024, projected to grow 7.43 % CAGR to reach USD Million 2586 during the forecast period 2025 - 2035.

🇬🇧 UK Mitochondrial Myopathy Diagnosis & Treatment Market sees growing research. Report: www.marketresearchfuture.com/reports/uk-m... #Myopathy #RareDisease

Our next abstract is by Shivashakthi Shivaraman who is researching collagen-VI related myopathies using zebrafish @ensdelyon.bsky.social with Prof Florence Ruggiero. Please contact Shivashakthi if you'd like to know more! linkedin.com/in/shivashakthi-shivaraman-5b971a186

#MSCA_DN #myopathy #colVI

curemfm13.org A important study by Tedesco et al., published on May 2025, that is collaboration of Angelo Poletti and Viriginia Kimonis ' laboratory teams titled “C-terminal HSPB8 frameshift variants define a…

🧬 New blog post!
Tedesco et al., 2025 reveal 3 new HSPB8 mutations linked to MFM13.
Elongated HSPB8 disrupts the CASA complex, impairing proteostasis.

🔗 Read our full summary: buff.ly/cMr4goI
#HSPB8 #MFM13 #RareDisease #Myopathy #Autophagy #CASAcomplex

Library ‍

Studying HSPB8 or the CASA autophagy complex?
Check out our growing MFM13 Library of research papers & case studies!

🔗 buff.ly/3geLAsI

#MFM13 #Myopathy #HSPB8

Have you seen the new Gene Set Enrichment Analysis highlighting key biological processes shared between #neuropathy and #myopathy from Laurini et al. in @Brain1878? Check out this paper and Lanfranco Pellesi’s other #PapersoftheWeek picks bit.ly/47tXidL

COVID-19 and Myositis: What We Know So Far - Current Rheumatology Reports Purpose Myositis as a rare manifestation of COVID-19 is only recently being reported. This review examines the current literature on COVID-19-induced myositis focusing on etiopathogenesis, clinical pr...

The exact mechanisms by which #COVID causes #myopathy are still under investigation, but several factors are thought to contribute:
- Direct viral injury: The virus can bind to ACE2 receptors, which are present on skeletal muscle tissue, potentially causing direct damage to muscle fibers.

#Medsky🧪 #IDsky #Autoimmunity #immunosky #Publichealth Several #casereports have documented instances of acute viral induced #myopathy from #postcovid ,highlighting muscle pain, weakness & elevated muscle enzymes as common features.

The 2025 meta-analysis found a small but significant increase in #myopathy (0.6% vs. 0%) but no significant difference in liver enzyme abnormalities (1.0% vs. 1.4%).
Older meta-analyses & systematic reviews also reported no significant increase in ⏫️ liver enzyme levels associated with statin use

In this #LetterToTheEditor, Jonathan De Winter et al. offer that loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary #myopathy ✉️

🔗 Access it here: physoc.onlinelibrary.wiley.com/doi/10.1113/...

HSPB8 Myopathy Explore detailed clinical insights on HSPB8 Myopathy, a progressive condition affecting adults in their 20s to 40s. Learn about key symptoms, genetic testing, disease management, histological…

🧪 What does MFM13 look like?
• Muscle weakness (arms, legs, hands)
• Trouble walking or climbing stairs
• Cramps, fatigue
• In some: breathing problems
🔗 Learn more buff.ly/bToH6HF

#MFM13 #HSPB8 #RareDisease #MuscleWeakness #Myopathy

Resilience Story of Managing Severe Obstructive #Sleep #Apnea With #Hypoventilation Secondary to #SELENON (SEPN1)-Related #Myopathy
onlinelibrary.wiley.com/doi/10.1002/...
#OSA

Targeted Therapies Offer Hope in Inflammatory Myopathies Advances in classification and treatment of idiopathic inflammatory myopathies highlight the role of biomarkers, interferon-targeted therapies, and novel immunotherapies in improving outcomes.

🧬 Targeted therapies are reshaping care in inflammatory myopathies, offering fresh hope for patients through biomarker-driven and immune-based approaches.

www.emjreviews.com/en-us/amj/ne...

#AMJNeurology #Autoimmune #Myopathy #PrecisionMedicine

Panels Relevant disorders: R169 Version 1.3

🧬 England Genomics and NHS England offer specialized Distal Myopathy Panel that includes HSPB8, the gene linked to MFM13.
🔎 Search “HSPB8” on their site to explore all available panels and learn more about testing options.
buff.ly/uWEfWG3
#HSPB8 #MFM13 #GeneticTesting #Myopathy #DistalMyopathyPanel

Search - Health in Code Through ClientSite you can filter variants and download your reports

🧬 Health in Code (Spain) offers specialized genetic panels for muscle disorders that include HSPB8, the gene linked to MFM13.
🔎 Search “HSPB8” on their site to explore available panels and learn more about testing options. buff.ly/lzcUBB1

#HSPB8 #MFM13 #GeneticTesting #Myopathy #Neuromuscular

🧬 MFM13 is now listed on UniProt as a disease variant linked to mutation in the HSPB8 gene.
Another step toward to better recognition and awareness of this ultra-rare HSPB8-related myopathy.
🔗 See section Disease&Variants on Uniprot
#MFM13 #HSPB8 #Uniprot #Myopathy

🎯 Want to test for #HSPB8 (linked to #MFM13 #myopathy) in US without ordering a full panel? Single gene testing might be the right fit
🔹 PreventionGenetics 🔹 Mayo Clinic 🔹 Invitae 🔹 Fulgent 🔹 GeneDx 🔹 BluePrint Genetics 🔹 Labcorp
Visit their website and search for HSPB8 #GeneticTesting #RareDisease

Research on Selective #Androgen #Receptor Modulator #RAD140 in a rat model reports hypertrophic effects on #plantaris #muscle mass and cross-sectional area, but no additive effect in combination with functional overloading.
doi.org/10.14814/phy...
#Myopathy #MuscleHypertrophy

3/5 EOMs and quadriceps respond remarkably distinctly to mitochondrial stress. Quadriceps activate ISRmt and anabolic pathways; EOMs do not.
#mitochondria #myopathy #stressresponses

🎯 Want to test for HSPB8 (linked to MFM13 myopathy) in #Europe without ordering a full panel? 🧬 Single gene testing might be the right fit.
🔹 Centogene 🔹 BluePrint Genetics 🔹 GeneDx 🔹Amsterdam UMC 🔹Eurofins
Visit their website & search for HSPB8
#HSPB8 #MFM13 #GeneticTesting #Myopathy #RareDisease

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models - European Journal of Human Genetics European Journal of Human Genetics - Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models

🚨 🧬Tedesco et al., 2025 report three new frameshift HSPB8 mutations causing elongated C-terminal ends.
Functional studies confirm toxic HSPB8 aggregation.
Clinical observations show neuromyopathy, respiratory failure, and cardiac symptoms.
👉 buff.ly/BWx5d6h
#HSPB8 #Myopathy #frameshift #MFM13

Congrats Dr Mridul Johari on this important study, huge thanks to the many collaborators and the patients and their families. We describe a large cohort of patients with mono- or bi-allergic variants in TUBA4A and myopathies, some presenting at birth. #myopathy #raredisease

I'm really excited to be heading to London at the invitation of #LondonMyologyForum

I'll talk about muscle mechanomics & #FoVE eval in preclinical and clinical trials.

Ongoing projects with D Freyssenet, J Gondin, J Dumonceau, M Bowen and coll.

#myology #myopathy

HSPB8 myopathy researchers:
📢 Coriell now uses updated MFM13 nomenclature for HSPB8 cell lines!
🧬 Cell lines are available to support your work.
#MFM13 #HSPB8 #RareDisease #Myopathy #CureHSPB8

🆕 New article by Bisciglia et al., Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age, provides long-term data on disease progression.

📖 Read now: buff.ly/D9NSLWN

#Neurology #Myopathy #NeuroSky #MedSky
@ean.org @WileyNeuro

Living with a rare health condition like HSPB8 #myopathy can be challenging, but you are not alone. 💙 #CureHSPB8 is here to support patients, caregivers, and families through collaboration with @Orphanet, @to-cure-a-rose-foundation @CORDS @NORD @globalGenes @MDA OMIM , and more.
#RareDiseases

Ever heard of #HSPB8 #Myopathy (MFM13)? Probably not.
That's exactly why we're shouting about it from the rooftops at the World Orphan Drug Congress.
Check out our poster — and if you're feeling bold, pass it on.

🚀 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

#Neurogenetics alert! Expanding the spectrum of SPTAN1-related neurogenetic disorders: loss-of-function variants associated with pediatric-onset distal #myopathy bit.ly/4jndGBh

Our Program Director, Dr. Ania Kordala, is heading to Warsaw for the conference hosted by the European Economic and Social Committee (EESC)!

She’s representing our mission to accelerate research & support for #HSPB8 #myopathy — and all rare diseases.

www.eesc.europa.eu/en/agenda/ou... "

HSPB8 Myopathy ✨ Big News: HSPB8 Myopathy is now officially Myofibrillar Myopathy type 13 with rimmed vacuoles (MFM13) ✨ We’re thrilled to share that CureHSPB8 is now listed in the Online Mendelian Inheritance ...

#HSPB8 #Myopathy is now officially recognized as Myofibrillar Myopathy type 13 (MFM13)

Check our blog to learn more about the updated HSPB8 myopathy classification: curehspb8.org/blog/hspb8-m...