Fundadora de @quepupilas -FB/IG-
Pres. Comité Asesor Médico y Científico en @acta2alliance
Apoyo a familias MSMDS/ACTA2 y a investigación de tratamientos🧬🦓
I've created an Excel doc with the published reports related to Multisystemic Smooth Muscle Disfunction Syndrome (MSMDS). Please, share with anyone interested, and let me know of any mistakes or new data to add. https://t.co/T4flkYGY4w #acta2#smoothmuscle
Hoy nos ponemos las gafas de sol por solidaridad 🕶️Solo 5 casos en España. 80 en todo el mundo. El síndrome multisistémico de disfunción del músculo liso es una enfermedad ultra rara que afecta desde la https://t.co/wcq8Nm7BNk esperanza está en la terapia génica. 💙#QuéPupilasMásGrandesTienes
Gafas de sol para para visibilizar el Síndrome de Disfunción del Músculo Liso. La asociación murciana ‘Qué Pupilas Más Grandes Tienes’ se suma a una campaña mundial para investigar esta enfermedad vinculada a mutaciones del gen ACTA2.
https://t.co/aIfL9LKlEf a través de @ormurcia
@NunezFeijoo Está es la carta que escribió Robe sl alcalde de Plasencia del PP cuando decidió vetarlo en su ciudad. Léela a ver si tienes algo de conciencia
🚨 Informe MSF: ‘Asfixia a Gaza: las actividades de suministro humanitario de MSF en un contexto de tortura colectiva’.
🔗Informe completo: https://t.co/RjnwJyoQOw
(Hilo)
We are saddened today as we learn of the passing of one of our members. Joey was a courageous young man and fought valiantly for 18 yrs. Our💕are with the Toeller family today and always. We celebrate his life and mourns his loss together. Rest in perfection, Joey🌈 #MSMDS#ACTA2
Indi y Jimena están haciendo el mismo viaje por carreteras diferentes. Ayúdanos a que en su destino sólo encuentren la tranquilidad que ofrece una enfermedad con tratamiento 💜 #enfermedadrara#raredisease#MSMDS https://t.co/CLrqNvMdw4
Indi was diagnosed with MSMDS after strokes at age 3 and battled with complications while intubation and anaesthesia. Her resilience is incredible 💜 Share to spread the word and save more kids like Indi. #MSMDS#RareDiseaseAwareness#ACTA2#smoothmuscle
Today is MSMDS Awareness Day with @Acta2Alliance.
A day to recognise Multisystemic Smooth Muscle Dysfunction Syndrome (#MSMDS) and the challenges to patients and healthcare professionals.
Watch a video on the latest developments in MSMDS #GeneTherapy: https://t.co/sWptb5kUBp
📢 Today is MSMDS Awareness Day! 📢
Let's spread the voice about the ultra-rare, life-threatening disease, Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS).
Learn and support gene therapy research: https://t.co/N83sUq26eM
#MSMDSAwarenessDay#RareDiseaseAwareness#ACTA2
MSMDS is caused by autosomal dominant R179 mutations in actin alpha 2, leading to smooth muscle vasculopathy: strokes followed by aortic dissections in second decade of life.
Also associated with heart defects like PDA, mydriasis, and in severe cases, prune belly sequence. 4/5