There’s no cure for spinal muscular atrophy (SMA). But there are treatments.
Many of them focus on:
- Easing symptoms
- Preventing complications
- Improving quality of life
Three medications can help slow down SMA symptoms. In some cases, they may be able to stop the disease from getting worse. But they aren’t an option for everyone.
There are different types of SMA. Even people who have the same type of SMA can have different symptoms. So treatment can vary widely from person to person.
If you have SMA, you’ll be treated by many doctors with different specialties. Your team will work together to come up with the best treatment plan for you.
Here’s what you need to know.
The FDA has approved three medications to treat SMA:
- Nusinersen (Spinraza)
- Onasemnogene abeparvovec-xioi (Zolgensma)
- Risdiplam (Evrysdi)
These medicines are types of gene therapy. That means they target the genes that play a role in SMA. (Genes are like blueprints in your body that tell your cells how to work.) SMA is almost always caused by a mutation to either the SMN1 or SMN2 gene. These tell your body to make proteins that help control muscle movement. When one of these genes is mutated, your muscles don’t grow and work the way they should.
Spinraza is for children and adults with a mutation in the SMN1 gene. The medicine has 4 loading doses.which are injected into your spinal canal, the area that houses your spinal cord. The first 3 doses are administered at 14-day intervals. The fourth dose should be given 30 days after the third dose. After the loading dose period, a dose should be administered once every 4 months. It uses a man-made genetic material called antisense oligonucleotide to help your body make more SMN proteins. Those extra proteins help your muscles work better and ease symptoms.
It's unclear how long Spinraza works but it is known that children who get it early in their lives tend to have the best results.
Zolgensma is for children younger than 2 years old. It’s also a one-time medication. But this one is given by an IV into a vein.
The medicine puts a virus into your body that includes a replacement gene. The virus gives your cells new DNA to replace the missing or mutated gene. That helps your motor neurons work better. It also eases symptoms and may help you live longer. Decreased platelet counts could occur following infusion with Zologensma. Call your doctor immediately if your child has unexpected bleeding or bruising.
Let your doctor know if your child has a cold or cough prior to or after administration of this medication. Viral respiratory infections before or after Zologensma infusion can lead to more serious complications.
Evrysdi is the easiest to administer because it’s taken orally after a meal each day and is recommended for children as young as two months. It works to correct the problem with the SMN2 gene so that it no longer blocks protein production. Those taking it have shown improved motor function.
With each of these medications, the earlier people with SMA start taking them, the more effective they are likely to be.
Your doctor might also recommend:
Breathing help. Because SMA can affect your airways and lungs, you may need therapy to help make them stronger. That can help you breathe better. You may need a suction machine to get rid of mucus and clear the back of your throat. If your case is more severe, you might need a machine that helps you breathe with the help of a mask or mouthpiece.
Dietary help. Children with SMA may have a hard time getting the nutrients they need to grow. Their doctor may recommend that they work with a dietitian. Your child may need a feeding tube to help them eat, especially if they’re having trouble swallowing or eating. Feeding tubes can go through the nose and down the throat, or go directly into the stomach through a gastric tube.
Physical and occupational therapy. Therapists can teach you exercises and stretches that can strengthen and stretch stiff muscles and joints. They can also help you or your child find and use equipment that makes moving easier, like braces, shoe inserts, a walker, or wheelchair.
Treatments for spine problems. Some children with SMA get scoliosis, an unusually curved spine. If you or your child has scoliosis, your doctor may recommend a back brace or surgery to help the spine grow correctly.