Spinal muscular atrophy or SMA is a genetic disorder that causes muscular atrophy and weakness in the spinal cord. It usually occurs in people who are born with it. It has no known cause but is thought to be due to genetic abnormalities within the nervous system. People with SMA have progressive weakness of the muscles of the arms, legs, torso, and pelvis. The condition typically begins in early childhood and gradually advances. However, there are some people who have SMA and it does not start until the age of 20.
Spinal muscular atrophy has two types. One is called spastic ataxia and the other is referred to as mixed ataxia. Spastic ataxia is when there is a deletion in the chromosome responsible for producing the defective gene. In mixed ataxia, a person may have a duplication of the gene but it does not cause the same spinal muscular atrophy that occurs with spastic ataxia. There have been cases of individuals with this condition being able to play sports like golf and tennis.
There are a few tests that you can do to determine if your child has spinal muscular atrophy or if they are in a class where they are likely to develop the disease in the future. Spinal muscle biopsy is done during the early to mid-stages of the disease. A small amount of fluid will be taken out of the area through an incision in the neck and checked for muscle biopsies. A doctor will write a report of the biopsy findings on a spinal muscle biopsy report.
If you take care of your child, they should live as long as possible because there is no cure for spinal muscular atrophy or other types of neuromuscular diseases. However, there are treatments available that will improve the muscle tone of the affected muscles. Spinal muscle atrophy occurs because the muscles do not receive enough blood supply or do not grow fast enough.
The treatment options depend on the severity of the spinal muscular atrophy or another disease. A child that has spasticity may need a combination of physical therapy and medication to deal with the motor function loss. They may need to use a walker or crutches to get around, but they will need to have plenty of room to walk because of the lack of flexibility in their legs. Medication will be needed to treat the respiratory infections that occur with this condition. They may need to have breathing problems or require breathing machines to prevent them from losing weight.
If you are concerned about your child has spinal muscular atrophy, you should talk to the doctor about obtaining two copies of the Smn2 gene. The Smn2 gene can be obtained through a spinal ultrasound that detects the presence of collagen in the spinal cord. If there is an abnormality in the spinal cord wiring, the Smn2 gene can be measured to determine if it is functioning properly. If it shows an inadequate level, there could be a problem with the wiring and the results can be used to determine if surgery is needed or if there are other treatment options.
Another one of the main causes of this condition is scoliosis. When a person has scoliosis their vertebrae do not fit properly in the spinal cord. This forces the nerves to travel through the wrong area and leads to the atrophy of the muscles in that area. There are other conditions that cause the loss of muscle function as well, including spinal muscular atrophy. If you are concerned about your child having scoliosis, you should see your pediatrician to talk about any symptoms he or she might have with the disorder.
There are some things parents can do to help their children who have this disease. They should teach them to stand up straight so they are not at risk of losing their balance. They should also try to help them understand the pain that comes with this disease by being patient with the disease itself. While there is no cure for spinal muscular atrophy, there are treatments that will help patients get back some of their mobility. Some doctors will even use surgery to fully restore some function to the affected muscles. For more information about these and other causes of this disease, it would be a good idea for you and your child to speak with a doctor.