August is Spinal Muscular Atrophy Month. This is close to my heart as I spent several years as a Muscular Dystrophy Association (MDA) camp counselor and many years working at an MDA care center. Because of this experience, I hope to bring awareness to the diagnosis and review the recommended treatments. While an SMA diagnosis is scary, there has been some big changes in the recent years that shifts the outcome of the disease. My time working in a care clinic, began in 2016 as new treatments were beginning to roll out. About 1/10,000 individuals are diagnosed with SMA. While this is a rare disease, 1/50 individuals are considered carriers. During my own pregnancy, I found out that I am an SMA carrier.
What is SMA?
This is a genetic or inherited disease where there is a defect in the SMN1 (survival motor neuron) gene. Our bodies produce a similar gene (SMN2), but it is not as effective as SMN1. SMN1 is produced throughout our bodies, therefore, this impacts all of your muscles. The SMN protein is required for motor neurons to work appropriately. This leads to a loss of motor neurons.
What are motor neurons? Motor neurons are the cells that send a message from our brains to the muscles to help them move. SMN1 produces the SMN protein. This protein is needed for healthy motor neurons. The picture below shows a great depiction of this process.
How do I know if my child has SMA?
Fortunately, SMA is part of the newborn screen in every state since 2024! When completing routine tests after birth, your provider will also be looking for SMA. This test accounts for 95% of cases.
Clinical Signs/Symptoms of SMA
- Muscle Weakness
- Tongue fasciculations (twitches)
- Lack/absence of reflexes
- Delayed milestones
- Low muscle tone (“floppy baby”)
- Poor sucking
- Weak Cry
- Belly Breathing
If your child is showing signs of SMA, talk to your doctor immediately.
What is the medical treatment – Disease modifying treatments
- Spinraza/Nusinursen (2016)
- Zolgesma (2019)
- Evrydsi/Risdiplam (2020)
Prior to 2016, there was not treatment available for SMA, now we have three FDA approved options! Talking with your medical team will help you decide which is the best route for your child. Two considerations that they may discuss are age and route of administration. Research does support that earlier intervention is crucial and the best time to intervene is before your child is even symptomatic. SMA is now on the newborn screen throughout the United States for this reason.
How can physical therapy work?
Prior to treatment, physical therapy was mostly proactive to prevent secondary complications. This is still true, but now that there is medical treatment available, this is a great time to involve PT in your care.
Treatment Guidelines
A standard of care was developed that lists Treatment Guidelines based off expert opinion and available research. It is important to utilize the best practice in combination with your medical team to develop the best program. In fact, individuals can achieve the ACSM guidelines (Check out our recommendations on exercise here!) when modified and slowly progressed within 6 months without being harmful.
Below are recommendations listed for different functional capabilities:
Non Sitters:
- Stretching: 3-5 times per week
- Bracing: 5 times per week
Sitters:
- Stretching: 5-7 times per week
- Bracing: 5 times per week
- Supported standing: 3-5 times per week
Walkers:
- Stretching: 2-3 times per week
- General conditioning/aerobic: 30 minutes
Physical therapy may be an excellent adjunct for you if you have SMA. This can be done at a young age to help achieve skills like sitting, rolling, crawling, walking, and jumping. At an older age, this can help with overall strengthening. We also know that limited range of motion (or contractures) can limit function. Exercises and stretches can be prescribed to help maintain flexibility and range of motion. A physical therapist can even help you monitor and track your progress through SMA specific outcome measures.
Cure SMA is also a great resource for patients, families, and providers to support this population.
FAQ Section
Q: How can pediatric physical therapy help a baby with SMA
A: Pediatric PT helps improve strength, mobility, and function through intentional play! This may be by changes in the placement of a toy to make a skill harder or easier. This could also look like changing and trying new positions during play.
Q: Can pediatric physical therapy help if my child is already receiving treatment for SMA?
A: Absolutely. After receiving treatment for SMA is a great opportunity to start physical therapy to capitalize on gains!
Q: How early should a child with SMA start physical therapy?
A: As early as possible. Early intervention can help provide families with tools to encourage mobility and participation from the beginning.
Q: How can pediatric physical therapy help older children and teens with SMA?
A: Pediatric physical therapy plays a vital role in supporting older children’s independence and mobility. Physical Therapy activities can be structured to help them keep up with peers, access the home and school environment easier, and even assist with progressions to help meet exercise guidelines.
Q: Why is it important to find a physical therapist knowledgeable about SMA?
A: A physical therapist that is knowledgeable about different SMA treatment options, understand the SMA natural history, and be aware of the most up to date physical therapy research and recommendations will be able to advocate best for your child. This can look like proactive exercises to prevent range of motion limitations or even equipment recommendations to help your child thrive.
Q: Where can I find experienced care for Spinal Muscular Atrophy in the Savannah, GA area?
A: At Savannah Speech and Hearing Center, our pediatric physical therapist has experience working with children of all ages diagnosed with SMA – from infants and toddlers to teens and adolescents. We offer individualized, age appropriate physical therapy interventions that help support mobility at every stage of development.
Learn more about our physical therapy program or contact us to learn how we can support your child’s journey with SMA at every stage of development.
References
Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-115.
Bartels B, Montes J, van der Pol WL, de Groot JF. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev. 2019 Mar 1;3(3):CD012120. doi: 10.1002/14651858.CD012120.pub2. PMID: 30821348; PMCID: PMC6396106
Voet, N (2019). Exercise in Neuromuscular Disorders: A Promising Intervention. ACTA Myologica 38 ($): 207-214
Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, et al. Quantitative evaluation of lower extremity joint contractures in spinal muscular atrophy: implications for motor function. Pediatr Phys Ther. 2018;30(3):209–15. https://doi.org/10.1097/PEP.0000000000000515.
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