ACTA2 Alliance team at the ACMG Conference 2026
At #ACMGtg26, we connected with 3,000+ providers and spoke with 100+ about #ACTA2 & #MSMDS. Huge thanks to the amazing team making this possible 👏💙 #RareDisease #Genetics @theacmg.bsky.social
Today is #RareDiseaseDay 💜
This month we highlighted key diagnoses associated with MSMDS: From congenital heart defects to Moyamoya and pediatric stroke.
Thank you to our community for sharing and amplifying awareness.
Early recognition changes outcomes. #ACTA2 #MSMDS
MSMDS often presents with Moyamoya-like arteriopathy. Early recognition is key to timely diagnosis and intervention. #ACTA2 @moyamoyashi02.bsky.social
With 3 days to #RareDiseaseDay, we highlight Prune Belly Syndrome, often an early sign in babies with MSMDS, alongside PDA, APW or pulmonary hypertension. #ACTA2 #MSMDS #PruneBelly #EagleBarrett @prunebellyadvocate.bsky.social
Pulmonary arterial hypertension in MSMDS
Pulmonary arterial hypertension (PAH) is a common early diagnosis in MSMDS, often identified around PDA or APW repair after birth. PAH is also a rare disease (1–9/100,000). #RareDiseaseMonth #ACTA2
New research shows that ACTA2 smooth muscle dysfunction leads to baseline failure of cerebrovascular reserve, reducing cerebral blood flow and increasing vulnerability to brain injury www.biorxiv.org/content/10.6... @biorxiv-neursci.bsky.social #MSMDS
#ACTA2 #MSMDS #BrainHealth #RareDiseaseResearch
Persistent Ductus Arteriosus PDA Aortopulmonary Window APW Multisystemic Smooth Muscle Dysfunction Syndrome MSMDS ACTA2 gene
Today, on CHD Awareness Day, we share our first Rare Disease Month post. PDA or APW can be early clues of MSMDS. Please help us spread the word. #ACTA2 #CHDAwarenessDay
Virtual meetings for families affected by multisystemic smooth muscle dysfunction syndrome
We’re excited to launch the MSMDS Family Circle:
a new space for MSMDS families to connect, share, and support one another. First meeting Feb 28!
Please share far and wide so every family can join us. www.acta2alliance.org/msmds-family...
#MSMDS #ACTA2 #SmoothMuscle #MusculoLiso
Docs normally avoid hypotensive agents and AV node blockers (also calcium channel blockers) in MSMDS: poor cerebral autoregulation= ⬆️ risk of syncope and stroke.
Hypotensive agents prevent patients with MSMDS from increasing their heart rate when needed.
#ACTA2
www.nature.com/articles/s41...
Research update! A recently article in @jci.org study shows that GI dysmotility in MSMDS is driven mainly by smooth muscle dysfunction, not by gut nerves. These findings open the door to mechanism-based and genome editing therapies to restore gut function. #ACTA2
🔗 insight.jci.org/articles/vie...
A Christmas gift from our kids to you 🎄 Many languages, many smiles, one shared wish.
Help it travel far, and let’s wish together for a 2026 with effective treatments for children with MSMDS.
✨
#ACTA2 #MSMDS #SmoothMuscle
What an amazing community we have! $10K+ raised since Nov 24 for MSMDS and ACTA2 research 🎉
If you’d like to be part of the final push in 2025, we’d welcome it 🤗
www.acta2alliance.org/support_MSMD...
#ACTA2 #RareDisease #SmoothMuscle
Giving Tuesday, ACTA2 Alliance
It’s #GivingTuesday. If you’d like to support MSMDS/ACTA2 research, our Year-End campaign is open. Your help keeps studies moving: www.zeffy.com/en-US/donati... #ACTA2 #MSMDS
MSMDS & ACTA2 Medical Library
‼️The ACTA2 & MSMDS Literature Library has been updated with the latest research articles. If you know of any information missing, please send it our way so we can add it.
docs.google.com/spreadsheets...
#ACTA2 #MSMDS #RareDisease #Research
Back in June, at our MSMDS conference, we shared how researchers were advancing their work on gene editing for ACTA2 R179H.
Today, we can celebrate that this effort is now peer-reviewed & published in @nature.com! 🎉
t.co/6WjTMRnAOi
#MSMDS #ACTA2 @markelindsay.bsky.social @bkleinstiver.bsky.social
September is a fresh start but for Riley, it means rehab post brain surgery, 1 yr after her first TIA. Read more: facebook.com/profile.php?...
To make revascularization safer for kids with MSMDS, docs/families reach out with your experience to msmds@acta2alliance.org
#ACTA2 #StrokeAwareness #TIAs
Msmds patient registry. Acta2 mutations research.
🧬 The MSMDS Patient Registry is live!
Built with families, experts & @SanfordResearch, it’s a powerful step to advance research & care.
Join, share, and learn more: www.acta2alliance.org/multisystemi...
#MSMDS #ACTA2 #PatientRegistry
MSMDS International Conference 2025 - Recordings in Youtube
The 2025 MSMDS Conference recordings are live on YouTube!
📼Watch, learn, and share: bit.ly/2025Conferen...
#ACTA2 #MSMDS #RareDisease #GeneticDisease #VascularDisease #PediatricStroke #AorticDissection #Mydriasis
