Multisystemic Smooth Muscle Dysfunction Syndrome
What is Multisystemic Smooth Muscle Dysfunction Syndrome?
Foundation to advocate for patients and families living with Multisystemic Smooth Muscle Dysfunction (MSMDS or SMDS), a disease caused by an ACTA2 genetic mutation.
Foundation to advocate for patients and families living with Multisystemic Smooth Muscle Dysfunction (MSMDS or SMDS), a disease caused by an ACTA2 genetic mutation.
White Matter Disease
Midriasis -congenital dilated pupils-
Persistent Ductus Arteriosus/Aorto Pulmonary Window
Pediatric Strokes
Aortic Dissection
| Name | Description |
|---|---|
| Bladder Dysfunction | Bladder Dysfunction |
| Constipation | Constipation |
| Muscle pain | Muscle pain |
| Weakness in the legs | Weakness in the legs, which can later spread to the arms and upper body. |
| Asthma | Asthma |
| Congenital heart disease | Congenital heart disease |
| Urinary difficulties | Urinary difficulties |
| Dilated blood vessels | Dilated blood vessels |
| Headaches | Persistent extremely bad headaches. |
| Stroke | Stroke |
| Transient Ischemic Attacks (TIA) | Transient Ischemic Attacks (TIA) are transient strokes that last only a few minutes and occur when the blood supply to part of the brain is briefly interrupted. |
| (A) Aniridia | No or undeveloped irises |
| Difficulty when drawing blood | Difficulty when drawing blood |
| Respiratory Manifestations | Respiratory Manifestations |
| Autonomic Dysregulation | Autonomic dysregulation involves malfunctioning of the autonomic nervous system. |
| Ophthalmologic Manifestations | Ophthalmologic Manifestations |
| Gastrointestinal Dysmotility | Food does not move normally through the stomach and intestines, there often is distention of the stomach and intestines as fluid collects, and there frequently is pain. |
| Abnormal Brain MRI Scans | Abnormal Brain MRI Scans |
| Enuresis | Bed wetting |
| Interstitial lung disease | Interstitial lung disease (ILD), also known as diffuse parenchymal lung disease (DPLD),[1] refers to a group of lung diseases affecting the interstitium (the tissue and space around the air sacs of the lungs). [2] It concerns alveolar epithelium, pulmonary capillary endothelium, basement membrane, perivascular and perilymphatic tissues. |
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Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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