Every August, Spinal Muscular Atrophy Awareness Month reminds us of the importance of understanding this rare genetic condition, its symptoms, and the treatment options available today. It also provides an opportunity to recognize advances in diagnosis, treatment, and care, as well as the importance of early identification of SMA.
Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative disorder that affects voluntary muscle movement, resulting in progressive muscle weakness and atrophy. In addition, it robs people of physical strength by affecting the motor nerve cells in the spinal cord. This takes away the ability to walk, eat, or breathe.
SMA is the leading genetic cause of death in infancy, and it is estimated that 1 in 50 Americans is a gene carrier. In the past, infants with SMA typically did not survive more than two years. However, today most doctors consider SMN-related SMA to be a continuum. They prefer not to make rigid predictions about life expectancy or weakness based strictly on age of onset.
What causes Spinal Muscular Atrophy?
A deficiency of a motor neuron protein called SMN, for ‘survival of motor neuron,’ causes chromosome 5 SMA. As its name implies, this protein is necessary for normal motor neuron function. Genetic changes (mutations) on chromosome 5, in a gene called SMN1, cause this deficiency.
Specifically, the most common mutation in the SMN1 gene within patients diagnosed with SMA is a deletion of a whole segment, called exon 7. Fortunately, neighboring SMN2 genes can partly compensate for nonfunctional SMN1 genes. These two genes share 99% identity. The number of SMN2 gene copies can influence disease severity, although SMA can affect each person differently.
The primary symptom of chromosome 5 SMA is weakness of the voluntary muscles. SMA most affects the muscles closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back. Additionally, Spinal Muscular Atrophy seems to affect the lower limbs more than the upper limbs and decreases deep tendon reflexes.
Meanwhile, SMA primarily affects motor function and generally does not affect cognitive ability.
What are the symptoms of SMA?
- Muscle weakness and atrophy
- Special complications can occur when SMA affects the muscles used for breathing and swallowing. As a result, this can lead to abnormalities in these functions. Also, if the muscles of the back weaken, spinal curvatures can develop.
Because symptoms and progression can vary from person to person, evaluation and care from healthcare professionals experienced in SMA are important.
Spinal Muscular Atrophy (SMA) Treatment
Currently, multiple FDA-approved treatments are available for SMA, and treatment approaches and options continue to evolve. As advances in specialty and gene therapies continue to reshape care for complex conditions. They also bring new considerations for access, affordability, and management.
Because treatment decisions depend on factors such as age, symptoms, disease progression, and individual health needs. Patients and families should speak with their healthcare provider about the most current and appropriate treatment options.
For the latest information on FDA-approved SMA treatments and therapies in clinical development, visit Cure SMA’s treatment resources.
If you or a loved one receives an SMA diagnosis, seek medical care and explore available treatment options right away. After all, early intervention and comprehensive management can help improve outcomes and support quality of life.
Likewise, collaboration with healthcare professionals who specialize in SMA can provide valuable guidance and support throughout the journey.
Why Spinal Muscular Atrophy Awareness Month Matters
Since January 2024, all 50 states and Washington, D.C., have screened newborns for SMA. Newborn screening can help identify infants with SMA before symptoms appear, creating an opportunity for timely evaluation and treatment. Because of this, early treatment has dramatically changed outcomes for babies with the most severe form of SMA. In the past, doctors did not expect these babies to survive past age two.
Learn more about newborn screening for SMA through the Health Resources & Services Administration (HRSA).
It’s estimated that about 1 in 50 Americans carries the SMA gene, which is why awareness and screening continue to make such a meaningful difference.
In the end, every step towards managing SMA is a step towards a brighter future. Together, we can continue to raise awareness, support ongoing research, and provide individuals with SMA the best possible care and treatment options.
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Sources: Cure SMA, Muscular Dystrophy Association, Health Resources & Services Administration (HRSA).
Originally published August 14, 2023.
Updated July 31, 2026.
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