MSMDS care: experience built through patients
MSMDS care: experience built through patients
With so few diagnosed cases of Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS), medical experience is not evenly distributed. It naturally concentrates
in the centers that have cared for the highest number of patients.
For this reason, finding truly experienced teams can be challenging. In rare diseases like MSMDS, expertise is built case by case, over time, through direct patient care.
However, since the disease was first defined in 2010 by Dr. Diana Milewicz’s team, the number of specialists involved, has steadily grown.
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 MSMDS, with the publication of a large volume of medical reference articles.
International reference teams in MSMDS
Massachusetts General Hospital (Boston) – Dr. Patricia Musolino
Under the leadership of Dr. Patricia Musolino, the hospital coordinates the MSMDS Natural History Study
and plays a key role in international collaboration between clinicians, researchers, and families.
UTHealth Houston (Texas) – Dra. Dianna Milewicz
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.
A growing international network
Although 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 MSMDS specialists.
The future: Centers of Care for MSMDS
We are currently working to build a global network of Centers of Care specializing in 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.
Are you a specialist working with MSMDS or related conditions?
The future of 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 MSMDS.
Literature
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
