Living with Multisystemic smooth muscle dysfunction syndrome
A rare genetic condition that affects smooth muscle throughout the body, including blood vessels, bladder, gut, and pupils.
Understanding Multisystemic smooth muscle dysfunction syndrome
Smooth muscle is the muscle in organs and blood vessels. In this condition, it is weak or impaired, which can cause problems with blood vessels, a weak bladder, and slow movement of food through the gut. The pupils may respond poorly to light. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bulging of large blood vessels (aneurysm)
- Large pupils that respond poorly to light
- Slow movement of food through the gut (hypoperistalsis)
- Gut that is twisted at birth (intestinal malrotation)
- Fast breathing
- Undescended testes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ACTA2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with ACTA2 Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the ACTA2 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: acta2-related smooth muscle dysfunction syndrome; mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy; smdys; smooth muscle dysfunction syndrome
Patient organizations
- ACTA2 AllianceMultisystemic smooth muscle dysfunction syndrome · United States
- The John Ritter Foundation for Aortic HealthMultisystemic smooth muscle dysfunction syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Multisystemic smooth muscle dysfunction syndrome.
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