Risk Factors, Diagnosis, and Prevention Methods for SMA
SMA, or Spinal muscular atrophy, is a genetic disorder that usually appears in six-month-old babies. It affects the nerve cells that control voluntary muscle movements. Read on to know the risk factors, diagnosis, and prevention tips for SMA. It will help you gain an understanding of this disorder.
Risk factors for SMA
This is an inherited disorder that runs in families. SMA is genetically passed down from parent to child. SMA is caused by a mutation in the survival motor neuron gene1 (SMN1), and most people have two copies of this gene. Persons with one faulty copy and one functioning copy of SMN1 are called carriers. This means these persons do not have SMA but may be able to pass the faulty gene to their children. When two carriers have a child, there is a risk that the child will be a carrier or that the child will have SMA. If only one parent is a carrier, the child has a risk of being a carrier as well. However, they may not be at risk for SMA. Babies born with SMA have received a faulty gene from both parents.
Diagnosis for SMA
A child who is weak or is experiencing delayed developmental milestones, such as delays in holding their head up, sitting, standing, or walking will need a diagnosis for SMA. Doctors conduct a physical examination to check the muscles and deep tendon reflexes. Here are some of the tests are done:Â
- Genetic testing
A blood test will determine if there are faulty genes. This test will look for mutations of the SMA gene on the fifth chromosome. - Electromyography  (EVM)
This test will evaluate the health of the muscles. It will check whether they are receiving signals from the nerves. - Muscle biopsy
In this test, a piece of muscle is removed for examination under the microscope. - Amniocentesis or chorionic villus sampling
This test is done to evaluate the fetus in the womb. Detection of SMA during pregnancy will allow for treatment before the symptoms appear.
When aware of the risk factors, diagnosis, and prevention tips for SMA, you can take steps that will help in the early treatment.
Prevention tips for SMAÂ
This genetic disorder cannot be prevented. If you have a family history of SMA, it is important to learn about the risk factors, diagnosis, and prevention tips for SMA. People who want to have children but have a family history of this disease should go for genetic counseling. Having knowledge about this disease on how it is passed on may help in stopping it from going further down the line. Early detection and diagnosis are essential to prevent death or disability, and early treatment in some cases can offer a chance for the baby to stay as healthy as is possible. Some states recommend newborn screening test that can show if the baby has SMA and early treatment can help prevent serious muscle weakness.
Knowing about the risk factors, diagnosis, and prevention tips for SMA will allow you to act early. The earlier the diagnosis and treatment, the better it is for those with SMA.