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ACTA2 Gene Mutations INFORMATION​

Signs and Symptoms

Signs and Symptoms

The three hallmark signs of MSMDS include patent ductus arteriosus (PDA) or aortopulmonary (APW), congenital mydriasis, and white matter changes.

What is ACTA2

What is ACTA2

Mutations in the ACTA2 Gene are associated with loss of smooth muscle contractility.

Potential Health Problems

Potential Health Problems

Neurological10,11- Changes in the brain vasculature are progressive and often lead to white matter injury, Transient Ischemic Attacks (TIAs), strokes, and seizures.

Familial Genetic Testing

Familial Genetic Testing

With most genetic disorders, there is concern for possible concurrent diagnosis with other children in the family.

ACTA2 -  HOW YOU CAN HELP

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Foundation for Aortic and Multisystemic Health

To advocate for patients and families living with ACTA2 and MSMDS; Uniting physicians, researchers, and families by furthering the knowledge and strengthening the pathway toward living a better life.​

What is ACTA2

What is ACTA2

Mutations in the ACTA2 Gene are associated with loss of smooth muscle contractility.

Signs and Symptoms

Signs and Symptoms

The three hallmark signs of MSMDS include patent ductus arteriosus (PDA) or aortopulmonary (APW), congenital mydriasis, and white matter changes.

Potential Health Problems

Potential Health Problems

Neurological10,11- Changes in the brain vasculature are progressive and often lead to white matter injury, Transient Ischemic Attacks (TIAs), strokes, and seizures.

Familial Genetic Testing

Familial Genetic Testing

With most genetic disorders, there is concern for possible concurrent diagnosis with other children in the family.

HELP US FUNDRAISE

HELP US FUNDRAISE

Help Fundraise for CRITICALLY NEEDED Research

Please DONATE

Please DONATE

Every little bit is greatly appreciated

Foundation for Aortic and Multisystemic Health

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Phone: 617-752-3377

 

ACTA2 Alliance

PO Box 1272

Gardner, Ma 01440

*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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