Telemedicine for Spinal Muscular Atrophy: Opportunities and Challenges


Exploring the benefits and limitations of telemedicine for SMA.

Sponsored by Genentech.

Diana Castro, MD, founder of the Neurology Rare Disease Center

Diana Castro, MD

During the last week of March 2020, on the heels of the COVID-19 lockdowns, telemedicine usage increased more than 150%, compared to the same week in 2019.1 Although video visits leveled off as pandemic restrictions eased,2 telemedicine continues to be a part of some patients’ treatment.

According to a 2020 survey of 800 patients and caregivers conducted by the National Organization for Rare Disorders (NORD) — a non-profit that aims to improve the lives of people affected by rare diseases—70% of respondents said they wanted telemedicine as an option for the future.3 Nearly 40% of respondents said that prior to the COVID-19 pandemic they had to travel more than 60 miles to receive the specialized medical care they needed.3

Spinal muscular atrophy (SMA) is an example of a rare disease that might particularly benefit from the persistence of telemedicine in a post-pandemic world.

SMA is a debilitating genetic disease marked by progressive loss of motor neurons, leading to muscle weakness that impairs basic vital functions, such as a person’s ability to walk, swallow and even breathe.4 SMA affects approximately 10,000-25,000 people in the US5 and ranges in severity, from Type 0, which typically results in death shortly after birth, to Type 4, in which motor impairment is generally mild and doesn’t surface until adulthood.6

If left untreated, people with Type 1 SMA never sit independently and most die before their second birthday. People with untreated Type 2 SMA will never walk independently, and many people with untreated Type 3 SMA require a wheelchair later in life.7 Types 0 and 4 are the least common, affecting less than 1% of the SMA population.6 SMA types have historically been defined by symptom severity and age of onset,6 though genetic tests now enable pre-symptomatic diagnosis, for the purpose of early intervention.8

A 2016 global survey of about 360 adults with SMA Types 1-4 found that 99% of respondents reported having limitations with mobility or walking, with most relying on an assistive device — 77% use a wheelchair or scooter, 3% use a walker and 8% use a cane.4

The SMA International Standard-of-Care recommends that people with SMA should receive motor assessments every 3-6 months to monitor disease progression,9,10 but mobility limitations can make traveling to see a doctor in person particularly challenging.11

Telemedicine Offers a Possible Solution

Diana Castro, MD, founder of the Neurology Rare Disease Center in Dallas, Texas, has been seeing many of her SMA patients through telemedicine in recent years, though there are no standard recommendations on the use of telemedicine for treating SMA.

In her own practice, Castro emphasizes the importance of being seen in person when trying to determine whether the diagnosis is indeed SMA, versus another neuromuscular condition, as well as genetic testing to confirm a suspected SMA diagnosis.

“The initial visit should be in person because there isn’t a good way to test reflexes remotely, and you have to feel the muscle to gauge hypotonia,” said Castro. “But once you have the diagnosis, telemedicine can be a convenient option to stay in touch with patients in between visits.”

To assess motor function during a video visit, Castro mostly observes, which is typical of an office visit too. She looks at eye movements, facial expressions and arm and leg movements. She may ask a caregiver or family member to assist with a few maneuvers.

Follow-up visits in person may be warranted. Castro recommends her patients come to the clinic for in-person exams at least once a year.

Today, there are three medications approved by the US Food and Drug Administration for SMA, including Evrysdi® (risdiplam), which is approved for the treatment of SMA in children and adults of all ages (see important safety information on Evrysdi below). Evrysdi was studied in Types 1, 2 and 3 SMA, as well as pre-symptomatic babies diagnosed with SMA on the basis of genetics.

Evrysdi is the only available SMA treatment that is administered orally and delivered directly to the patient’s home.

Between telemedicine and at-home treatment, people living with SMA could create a care plan with their providers that minimizes travel to the clinic, while still keeping in regular contact and avoiding treatment delays.

Keeping Telemedicine Accessible

The Federal Communications Commission (FCC) estimates that about 15 million people in the US do not have access to broadband internet,12 which is necessary for conducting high-quality video visits, though that number may be a significant underestimate.13

This lack of high-speed internet access is particularly concentrated among groups that have been historically underserved by medicine – rural communities, racial and ethnic minorities, and families living below the poverty line,14 potentially exacerbating existing health disparities.15

Many pandemic-era policies were put in place to ease disparities in telemedicine usage, such as expanding Medicaid and Medicare reimbursement for this type of care,16 relaxing patient privacy regulations to enable the use of more consumer-friendly platforms for video visits,17 and waiving state licensing rules so physicians could provide care to patients in different states.

Now, most of these state waivers have expired18 and there is no guarantee that federal policy changes will persist indefinitely. Despite the benefits of telemedicine for people with rare diseases that limit mobility, including SMA, future access remains uncertain.

By advocating for continuations of pandemic-era telemedicine policies and listening to patients’ specific needs and concerns around video versus in-person visits, physicians can help to ensure SMA care remains accessible.

Important Safety Information & Indication


Evrysdi® (risdiplam) is indicated for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients.

Important Safety Information

Interactions with Substrates of MATE Transporters

  • Based on in vitro data, Evrysdi may increase plasma concentrations of drugs eliminated via MATE1 or MATE2-K, such as metformin
  • Avoid coadministration of Evrysdi with MATE (multidrug and toxin extrusion) substrates. If coadministration cannot be avoided, monitor for drug-related toxicities and consider dosage reduction of the coadministered drug if needed

Pregnancy & Breastfeeding

  • Evrysdi may cause embryofetal harm when administered to a pregnant woman. In animal studies, administration of Evrysdi during pregnancy and/or lactation resulted in adverse effects on development. Advise pregnant women of the potential risk to the fetus
  • Pregnancy testing is recommended prior to initiating Evrysdi. Advise female patients to use contraception during treatment with Evrysdi and for at least 1 month after the last dose
  • The developmental and health benefits of breastfeeding should be considered along with the mother's clinical need for Evrysdi and any potential adverse effects on the breastfed infant

Potential Effects on Male Fertility

  • Counsel male patients that fertility may be compromised by treatment with Evrysdi. Male patients may consider sperm preservation prior to treatment

Most Common Adverse Reactions

  • The most common adverse reactions in later-onset SMA (incidence in at least 10% of patients treated with Evrysdi and more frequent than control) were fever, diarrhea, and rash
  • The most common adverse reactions in infantile-onset SMA were similar to those observed in later-onset SMA patients. Additionally, adverse reactions with an incidence of at least 10% were upper respiratory tract infection (including nasopharyngitis, rhinitis), lower respiratory tract infection (including pneumonia, bronchitis), constipation vomiting, and cough
  • The safety profile for presymptomatic patients is consistent with the safety profile for symptomatic SMA patients treated with Evrysdi in clinical trials

You may report side effects to the FDA at 1-800-FDA-1088 or You may also report side effects to Genentech at 1-888-835-2555.

Please see full Prescribing Information for additional Important Safety Information.

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  3. National Organization for Rare Disorders. Ensuring access to telehealth for rare diseases. Accessed May 25, 2022.
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  5. SMA Foundation. About SMA: Overview. Accessed March 9, 2022.
  6. Cure SMA. Types of SMA. Accessed March 9, 2022.
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  8. Chien YH, Chiang SC, Weng WC, et al. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017;190:124-129.e1. doi:10.1016/j.jpeds.2017.06.042
  9. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-15.
  10. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207.
  11. Grogan, J., Simmons, Z. Telemedicine for the care of neuromuscular disorders. Curr Treat Options Neurol 22, 17 (2020).
  12. Federal Communications Commission. Fourteenth broadband deployment report. Accessed May 25, 2022.
  13. Busby J, Tanberk J, Cooper T. BroadbandNow estimates availability for all 50 states; Confirms that more than 42 million Americans do not have access to broadband. BroadbandNow Research. May 5, 2021. Accessed June 14, 2022.
  14. Perrin A. Demographics of internet and home broadband usage in the United States 2021. Pew Research. 2021.
  15. Ortega G, Rodriguez JA, Maurer LR, et al. Telemedicine, COVID-19, and disparities: Policy implications. Health Policy Technol. 2020;9(3):368-371. doi:10.1016/j.hlpt.2020.08.001
  16. Center for Medicare & Medicaid Services. Trump administration drives telehealth services in Medicaid and Medicare.  Accessed June 13, 2022.
  17. U.S. Department of Health and Human Services. OCR Announces Notification of Enforcement Discretion for Telehealth Remote Communications During the COVID-19 Nationwide Public Health Emergency. Accessed July 7, 2022.
  18. Federation of State Medical Boards. U.S. states and territories modifying requirements for telehealth in response to COVID-19. Accessed June 14, 2022.
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