Why choose Cook Children's for spinal muscular atrophy?

For children with spinal muscular atrophy (SMA), timing is everything. Every day without treatment leads to worse outcomes. In the past, there weren't many options for this genetic neuromuscular disorder. Many children wouldn't receive a diagnosis until they showed symptoms, and that was often too late to prevent permanent and irreversible damage.

Now, newborn screenings and new treatments have dramatically changed the lives of children with spinal muscular atrophy. With a fast diagnosis and prompt treatment at the Jane and John Justin Institute for Mind Health at Cook Children's, kids can enjoy happier, brighter futures.

What you can expect

Spinal muscular atrophy is a genetic condition that weakens a child's muscles over time. SMA makes activities and movements like sitting, swallowing and breathing difficult. Children with the most severe type of SMA may need a feeding tube and ventilator to help them eat and breathe.

Fast treatment is a must for children with SMA and can be the difference between preserving muscle strength and loss of critical motor skills. This is a race against time, and we're here to run it for your child.

How do we diagnose SMA?

Fast! To catch SMA early, every newborn in Texas receives screening for the condition, along with a host of other genetic conditions. These simple blood tests, along with new advances in treatments, make it possible for children to get the medical attention they need, when they need it.

Remember that a positive SMA newborn screening isn't a diagnosis. Your child still needs a confirmatory genetic test right away. Our pediatric neurologists perform these tests to confirm a diagnosis. At the same time we begin testing, we start developing your child's treatment plan. Doing so we can start care as soon as we finalize their diagnosis.

Spinal muscular atrophy treatments we offer

Treatments available at Cook Children's increase the possibility for children to walk, play and hit milestones that weren't possible a decade ago. The earlier we start these treatments, the better the results for many little ones.

While we don't have a cure for SMA yet, these treatments improve children's lives, independence and well-being:

• Gene therapy: This treatment aims to replace the missing or non-working gene necessary for normal muscle function, helping the body produce essential proteins and targeting the root cause of SMA. Gene therapy for SMA includes onasemnogene abeparvovec-xioi (Zolgensma) or onasemnogene abeparvovec-brve (Itvisma).
• Other disease modifying medications: Given by intrathecal injection or by mouth, medications help the body make more functional protein to keep nerves and muscles healthy. Current medications include nusinersen (Spinraza) and risdiplam (Evrysdi).
• Supportive care: Physical and respiratory therapies help children maintain mobility, manage daily activities and protect lung health. We also offer nutritional support, speech therapy and care from other specialists, such as pulmonologists and orthopedic surgeons.

Can you prevent SMA?

You can't prevent spinal muscular atrophy. But genetic testing can determine your chances of passing it to your baby. You may want to consider genetic testing and counseling if you or your partner have a family history of SMA.

Location

We see children in our Muscular Dystrophy Association (MDA) Clinic. The specialists at this clinic diagnose and treat children, teens and young adults with neuromuscular diseases, including SMA. We also offer virtual visits for some appointments.

Physicians

Our pediatric neuromuscular experts and care team bring specialized expertise and deep compassion to the care they provide every family facing SMA. By staying at the forefront of advanced therapies, they personalize treatments to help your child reach their fullest potential.