Multisystemic smooth muscle dysfunction syndrome

Other Names: Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy See more

Categories: Blood Diseases, Congenital and Genetic Diseases, Digestive Diseases, Kidney and Urinary Diseases, Lung Diseases, Nervous System Diseases

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Description

Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition in some individuals.

Source: GARD Last updated on 05-01-20

Symptoms

What are the signs and symptoms of multisystemic smooth muscle dysfunction syndrome?

Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following :

Congenital mydriasis (fixed dilated pupils)
Patent Ductus Arteriosus
Vascular problems including aneurysms
Gastrintestinal problems
Weak bladder
Lung disease
White matter abnormalities
Changes consistent with MoyaMoya disease

Last updated on 05-01-20

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

Selected Full-Text Journal Articles

Multisystemic smooth muscle dysfunction articles

Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction Am J Med Genet A. 2010 Oct; 152A(10):2437-43.

Last updated on 04-27-20

Name: Vascular Cures 274 Redwood Shores Parkway, #717
Redwood City, CA, 94065, United States Phone: +1-650-368-6022 Email: info@vascularcures.org Url: https://vascularcures.org/

Name: National Organization of Vascular Anomalies PO Box 38216
Greensboro, NC, 27438-8216, United States Email: khall@novanews.org Url: http://www.novanews.org

Name: The John Ritter Foundation for Aortic Health 11901 Santa Monica Blvd. #410
Los Angeles, CA, 90025, Phone: 310-736-1550 Email: http://johnritterfoundation.org/contact/ Url: http://johnritterfoundation.org/

Name: The John Ritter Research Program in Aortic and Vascular Diseases The University of Texas Medical School at Houston 6431 Fannin Street, MSB 6.100
Houston, TX, 77030, Phone: 713-500-6715 Email: info@JohnRitterResearchProgram.org Url: http://www.johnritterresearchprogram.org/

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Multisystemic smooth muscle dysfunction syndrome

Table of Contents

Description

Symptoms

What are the signs and symptoms of multisystemic smooth muscle dysfunction syndrome?

Symptoms and their Known Frequencies

Selected Full-Text Journal Articles

Multisystemic smooth muscle dysfunction articles

Connect with other users with Multisystemic smooth muscle dysfunction syndrome on the RareGuru app

Join the RareGuru Community

Multisystemic smooth muscle dysfunction syndrome

Table of Contents

Description

Symptoms

What are the signs and symptoms of multisystemic smooth muscle dysfunction syndrome?

Symptoms and their Known Frequencies

Resources

Selected Full-Text Journal Articles

Multisystemic smooth muscle dysfunction articles

Organizations

Connect with other users with Multisystemic smooth muscle dysfunction syndrome on the RareGuru app

Join the RareGuru Community