Genetic testing for rare diseases such as spinal muscular atrophy (SMA) before you conceive can be an important step in starting or building a family.
It can be vital to ensure that you will have a healthy baby. By getting tested before conception, parents are able to see if they are likely to be a carrier of a disease, including spinal muscular atrophy. Testing can reduce the likelihood of passing a life-threatening condition or disease to a child.
SMA is genetic.
About 1 in 50 people are a carrier of SMA and most carriers do not show any symptoms. SMA, a severe disease that affects the brain’s control of the muscles (neuromuscular), can essentially weaken spinal cord neurons. There is a 25% chance that a carriers’ baby will be affected by SMA. This is why screening is very important.
At birth, many infants with SMA don’t show any symptoms. In fact, symptoms do not occur until they are three months old. Then the baby may have a difficult time moving, coughing, and even breathing normally. If not caught early, it can lead to infections of the chest and respiratory failure. Sadly too many babies with SMA are lost within a year of their birth.
There are many other symptoms related to SMA. Furthermore, SMA can affect anyone regardless of their race or ethnicity. Most carriers do not have a history of SMA nor do they show any out of the ordinary symptoms. If you are a carrier, your doctor can provide you with options on how to proceed.
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