A rare genetic vascular disease characterized by congenital dysfunction of smooth muscle throughout the body manifesting with cerebrovascular disease aortic anomalies intestinal hypoperistalsis hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large persistent patent ductus arteriosus are characteristic hallmarks of the disease.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Multisystemic smooth muscle dysfunction syndrome?
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Advocacy Organizations
ACTA2 Alliance
Foundation to advocate for patients and families living with Multisystemic Smooth Muscle Dysfunction ("MSMDS"), a disease caused by an ACTA2 genetic mutation.
Cardiac Community Advocacy and Support Initative
To advocate for, raise awareness about, and support people living with cardiovascular diseases, with a focus on the rare disease pulmonary hypertension.
Hellenic Community for Pulmonary Hypertension
The " Hellenic Community for Pulmonary Hypertension " is a non-profit organisation, of a voluntary nature, which began its work at the end of 2012 by the sufferers themselves and their caregivers, with the main objective of recognising, consolidating and updating all issues surrounding this unknown disease to the general public.Representation of the PH sufferers of the Greek & Cypriot territory.
NGO Association of patients with Pulmonary Hypertension
Mission - to protect the rights of people with rare diseases - pulmonary hypertension, to defend their right to treatment, timely diagnosis and social protection.
Pulmonary Hypertension Association of Canada
To empower the Canadian pulmonary hypertension community through support, education, advocacy, awareness, and research.
The John Ritter Foundation for Aortic Health
To raise awareness of thoracic aortic aneurysm and dissection through research, education, and advocacy. We seek to prevent death and disability caused by thoracic aortic dissection.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.