Information, Education and Research about Spinal Muscular Atrophy (SMA) Genetic Testing and Healthy Options.
Tune in to WCVB TV 5 (Boston) on September 6th to see Athena support the Muscular Dystrophy Association.
Read this Special Report and MDA Publication to learn more about Athena's connection with MDA.
Having a simple blood test before conceiving or early in pregnancy will help you learn if you are a carrier of SMA. SMA Carrier testing is easy. Raising a baby with SMA is difficult, and can be heartbreaking. Talk to your doctor about SMA carrier testing.
Knowing your SMA carrier status allows you to make informed reproductive choices. Couples identified as SMA carriers have many options to consider. These include adopting, using donor sperm or donor eggs, and undergoing in vitro fertilization and having their embryos tested with preimplantation genetic diagnosis.
SMA is the leading genetic cause of death in early childhood. Each year, about one in 10,000 infants is born with SMA, many of whom will not live past their second birthday. One in every 40 to 60 people carries the faulty gene responsible for SMA and can pass it along to their children. A simple blood test can tell couples whether they are SMA carriers.
The American College of Medical Genetics recently recommended that all couples, regardless of race or ethnicity, have a blood test that will tell them whether they are SMA carriers and at risk of having a baby with SMA. Couples who are SMA carriers are not alone: information, help, and support is available to help guide them through their options.
One in 40 people carries the mutated gene that causes SMA. Carriers of the mutated gene for SMA have no symptoms and are not sick. Its important to speak with your doctor or genetic counselor before initiating a pregnancy.
Question: Should I have SMA Carrier testing even if my other children are not affected??
Asked by Connie Burton
Asked by Brittany Mac Leod
Question: How do I ask my doctor about SMA carrier testing?
Asked by Luisa Koh
Question: Is SMA as common as Cystic Fibrosis?
Asked by Barbara Hatcher
Dr. Christine Stanley
I am Dr. Christine Stanley, Laboratory Director and American Board of Medical Genetics board certified clinical molecular geneticist. I would like to take this opportunity to discuss the importance of carrier testing for one of the most under-recognized but most common genetic causes of infant death, Spinal Muscular Atrophy (SMA).1...
continue reading »Athena has been performing Spinal Muscular Atrophy (SMA) testing since 1996. This site was created to promote awareness of SMA - and help parents make informed decisions.
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