Texas Health and Human Services / Texas Health Steps

Spinal Muscular Atrophy (SMA)

Experts know that screening detects most babies with SMA (about 95%) . . . There is no cure for SMA yet, but early diagnosis allows early monitoring and treatment.

U.S. Department of Health and Human Services

Spinal muscular atrophy (SMA) is a rare, inherited disorder that occurs about once in every 6,000 to 10,000 births. It is among the leading genetic causes of death in infants and toddlers.

The disease progressively destroys muscles that normally allow an individual to crawl, sit, walk, turn the head, speak, breathe and swallow. Symptoms can begin before birth or during infancy, childhood or adulthood, but are most severe and life-threatening with early onset.

SMA is included in the mandatory newborn blood spot screening for all Texas babies. However, newborn screening is not considered diagnostic. Results that are out of range require additional testing and evaluation to determine diagnosis and expected severity of the disease.

Infants who test positive for SMA can be treated with medication or gene therapy before the onset of symptoms, when the outcomes of treatment are most significant. Without treatment, muscle atrophy can worsen quickly and cause severe disability or death.

Texas Health Steps providers who care for infants and children with SMA play a key role in their treatment.

Quick Quiz

Each of the following services is the responsibility of the infant’s primary care provider after SMA is diagnosed EXCEPT for which one?

Mail a notification letter about out-of-range SMA test results and an SMA fact sheet to parents.

Provide referrals to support services such as Early Childhood Intervention.

Provide referrals to specialists such as endocrinologists, neurologists and therapists to evaluate, monitor and treat the infant.

Coordinate the infant’s care in partnership with the family and appropriate specialists and subspecialists.

Why it matters

Early diagnosis is key to SMA treatment success. Texas Health Steps providers can help ensure that all infants in their care were tested for SMA and other genetic disorders at birth. If SMA is diagnosed, the primary care provider plays a key role by making necessary referrals to specialists and subspecialists and continues to coordinate care in partnership with the family and the other health-care providers.

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References

National Institute of Neurological Disorders and Stroke. (2021). Spinal Muscular Atrophy Fact Sheet.

Texas Department of State Health Services, Newborn Screening Program. (2021). Texas Now Screening for Spinal Muscular Atrophy (SMA).

U.S. Department of Health and Human Services. (2018). Newborn Screening for Spinal Muscular Atrophy: A Summary of the Evidence and Advisory Committee Decision Report.