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Health Information For Parents
Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller).
SMA can affect a child’s ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing.
There are four types of SMA. Some show up earlier and are more severe than others. All types of SMA need ongoing treatment by a medical care team. There’s no cure for SMA, but treatments can help children with SMA live a better life.
In SMA, the nerves that control muscle strength and movement break down. These nerves (called motor neurons) are in the spinal cord and lower part of the brain. They can’t send signals from the brain to the muscles to make them move. Because the muscles don’t move, they get smaller (or atrophy).
Most kinds of SMA are caused by a problem with a gene called the SMN1 gene. The gene does not make enough of a protein needed for the motor neurons to work normally. The motor neurons break down and can’t send signals to the muscles.
A child with SMA gets one copy of the SMN1 gene from each parent. A child who gets the SMN1 gene from only one parent probably won’t show any signs of SMA, but could pass the gene to his or her kids.
Genetic testing of people with SMA and their parents can help determine how likely it is for someone to have a child with SMA.
The signs of SMA can vary. Some babies with SMA are “floppy” and don’t learn to roll or sit at the expected age. An older child might fall more often than kids of the same age or have trouble lifting things.
Kids with SMA can develop scoliosis (a curved spine) if the back muscles are weak. If SMA is severe, a child might not be able to stand or walk and may need help to eat and breathe.
The four types of SMA are categorized by the disease’s severity and the age when symptoms begin:
When they think a child might have SMA, doctors may order:
Although there’s no cure for SMA, these treatments can help kids who have it:
Research shows that kids with SMA do best with a team approach to their care. Parents, doctors, nurses, therapists, counselors, and a dietitian are all important members of the team. This approach and recent medical advances have improved the outlook for kids with SMA.
Read the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.
Taking care of a chronically ill child is one of the most draining and difficult tasks a parent can face. But support groups, social workers, and family friends often can help.
A teen athlete talks about why he won’t let his condition take him out of the game.
Muscular dystrophy is a disorder that weakens a person’s muscles over time. People who have the disease can gradually lose the ability to do everyday tasks.
If your child has a birth defect, you don’t have to go it alone – many people and resources are available to help you.
Without bones, muscles, and joints, we couldn’t stand, walk, run, or even sit. The musculoskeletal system supports our bodies, protects our organs from injury, and enables movement.
The brain controls everything we do, and is often likened to the central computer within a vast, complicated communication network, working at lightning speed.
Scoliosis makes a personâs spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed.
Some kids with scoliosis wear a brace to help stop their curve from getting worse as they grow. Find out more about the different types of scoliosis braces.
A brain MRI, a safe and painless test that produces detailed images of the brain and the brain stem, can help detect cysts, tumors, bleeding, and other problems.
A head CAT scan is a painless test that uses a special X-ray machine to take pictures of a patient’s brain, skull, and sinuses, as well as blood vessels in the head. It might be done to check for any number of conditions.
Your spine, or backbone, normally curves forward gently as it runs up your back. Sometimes, though, someone’s back can be rounded too far forward, which is a condition known as kyphosis.
Steven was diagnosed with SMA when he was 3. Here’s a look at his life today and why he says, “When someone tells you you can’t do something, don’t be afraid to try something new.”
Watch this movie about the muscular system.
If the brain is a central computer that controls all the functions of the body, then the nervous system is like a network that relays messages back and forth to different parts of the body. Find out how they work in this Body Basics article.
Wheelchairs are a way for some people to be independent, despite illnesses or injuries. Find out more in this article for kids.
Some teens with scoliosis wear a brace to help stop their curve from getting worse as they grow. Find out more about how scoliosis braces work and how long people wear them in this article for teens.
Meet Steven. He’s 14 and has spinal muscular atrophy. He shares his struggles and successes in this video.
What teachers should know about muscular dystrophy, and how to help students with MD do their best in school.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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After careful preparation, Connecticut Children’s is excited to welcome your child back for many surgeries, procedures and in-person appointments.
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