Spinal Muscular Atrophy Carrier Tests 

By  Staff Writer

Spinal muscular atrophy Carrier Tests
When an infant or small child is diagnosed with spinal muscular atrophy, or SMA, it means that they will progressively suffer the loss of motor neurons. This causes their muscles to weaken and waste away, and the process may also affect the respiratory system. Depending upon the severity of the symptoms, SMA can prove to be fatal.

Four Types of Spinal Muscular Atrophy

Researchers have broken SMA into four classifications that are largely based upon the age at which symptoms first appear. Typically, the younger a baby is when symptoms are first observed, the more severe those symptoms tend to be.

A baby who is born with the symptoms of SMA or develops them within the first six months of life is said to have Type I SMA. This is generally the most serious form of this genetic disorder, with many babies who have Type I not surviving beyond two years of age because of respiratory failure. Babies with Type I SMA are unable to sit and suffer from generalized weakness.

Type II SMA becomes apparent at between seven and 18 months of age. Babies diagnosed with Type II can live as few as four years. Alternatively, they may be able to live into young adulthood, which mainly depends upon the severity of their symptoms. These individuals may be able to sit on their own, but cannot stand or walk.

When symptoms appear at greater than 18 months of age, they are usually milder. The baby will be able to learn to stand and walk without assistance. A normal lifespan can be expected.

Type IV SMA develops at ages greater than 20 years. People who receive this diagnosis have the mildest symptoms at all. Generally, their respiratory and gastrointestinal systems are not affected. This means that they can expect a normal lifespan.

How Many People Have Spinal Muscular Atrophy?

Scientists estimate that approximately one in 10,000 live births have a likelihood of being diagnosed with SMA. Additionally, research suggests that approximately one in 50 people are carriers of the genetic mutation that results in SMA in offspring. The American College of Medical Genetics believes that the incidence rate is high enough that all couples should undergo carrier testing before conception or shortly after learning of a pregnancy. At the very least, people who have a family history of SMA may find it prudent to undergo SMA carrier testing before starting a family.

Carrier Testing for Spinal Muscular Atrophy

Being tested to find out if you are a spinal muscular atrophy carrier is easier than you might think. With just a small blood sample and a few days, it’s easy for a reputable laboratory to return reliable results. The blood tests are capable of detecting nearly 90 percent of carriers. For best results, it is advisable to test both parents. This is because both parents must be SMA carriers in order to potentially pass the genetic mutation on to their children.

If one partner is an SMA carrier and the other is not, then the chances of having a child that is affected by spinal muscular atrophy are relatively small. However, if both partners are carriers, then there is a 25 percent chance that their biological child could be born with or develop SMA.

Get Informed with DNACarrierTests.com

Family planning is much easier when you have access to all of the important details. Many genetic tests require a simple blood sample from one or both prospective parents to yield trustworthy results. You can rely on DNAcarriertests.com to provide you with the data you need to make informed decisions for your family.

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