ACTA2-related conditions can present in different ways, and the medical expertise needed to care for affected individuals varies accordingly. Some people have multisystemic smooth muscle dysfunction syndrome (MSMDS), while others experience predominantly aortic, vascular or cerebrovascular complications.
Finding medical teams with relevant experience can be challenging, particularly for rare and complex presentations. Expertise develops through direct patient care, research and collaboration across medical specialties and countries.
Since MSMDS was first described in 2010 by Dr. Dianna Milewicz and colleagues, understanding of ACTA2-related conditions has continued to grow. Today, clinicians and researchers worldwide are contributing to improved recognition, diagnosis and care.
ACTA2 Alliance aims to strengthen connections between patients, families and medical professionals, helping people affected by ACTA2-related conditions access relevant expertise and coordinated care.
Currently, the teams with the most specialized personnel are located in the United States, where both clinical care and research efforts are advancing. Other countries, including Australia, China, Japan and the United Kingdom, have also contributed to the improvement of care in ACTA2-related conditions, including MSMDS, with the publication of a large volume of medical reference articles.
Explore the MSMDS published hospitals map
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and plays a key role in international collaboration between clinicians, researchers, and families.
UTHealth Houston is a global reference center for genetic vascular diseases, particularly those related to ACTA2 mutations.
Led by Dianna Milewicz, this team has been fundamental in identifying and defining MSMDS.
Their work continues to drive forward clinical research, including emerging therapeutic approaches such as Nicotinamide Riboside.
Although ACTA2 & MSMDS specialists may still seem limited, the global network is expanding rapidly.
Researchers, clinicians, and institutions from different countries are contributing to a better understanding of the disease and
improving patient care through shared knowledge and collaboration.
At ACTA2 Alliance, we actively support connections between local medical teams and experienced international specialists to ensure patients receive informed and coordinated care.
Contact us at msmds@acta2alliance.org if you need help connecting with experienced ACTA2 & MSMDS specialists.
We are currently working to build a global network of Centers of Care specializing in ACTA2 & MSMDS.
This initiative aims to ensure that patients can be referred to hospitals and professionals with specific experience in the condition,
equipped with up-to-date clinical knowledge and coordinated care protocols. By strengthening this network, we hope to improve access to specialized care, accelerate diagnosis, and support better long-term outcomes for patients worldwide.
The future of care for people with ACTA2-related conditions including MSMDS care depends on collaboration.
If you are a clinician, researcher, or part of a medical institution with experience in smooth muscle disorders, vascular diseases, or related fields, we invite you to connect with us. Your hospital or team could become part of the growing international network and help shape future Centers of Excellence in ACTA2 & MSMDS.
1. Milewicz, Dianna M et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. American journal of medical genetics, 2010.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3573757/
2. Data extracted from “Literature-MSMDS-ACTA2”, a database of published medical literature on multisystem smooth muscle dysfunction syndrome. Active document.
3. Jose de Grazia, Ignacio Delgado, Angel Sanchez-Montanez, Susana Boronat, Miguel del Campo, Elida Vazquez.Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings, Brain and Development, 2017.
https://www.sciencedirect.com/science/article/abs/pii/S0387760416301073
*This content is not intended as a substitute for professional medical advice, diagnosis, or treatment. Should you require medical advice, please contact a qualified medical professional who is familiar with Multisystemic Smooth Muscle Dysfunction Syndrome.
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