Multisystemic smooth muscle dysfunction syndrome
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 October 2023.
Newly diagnosed with
Multisystemic smooth muscle dysfunction syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
ACTA2 Alliance
Foundation to advocate for patients and families living with Multisystemic Smooth Muscle Dysfunction ("MSMDS"), a disease caused by an ACTA2 genetic mutation.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.