What Is Spinal Muscular Atrophy or SMA?
SMA is a rare genetic disease that affects the nerves responsible for muscle movement, leading to progressive muscle weakness. It is caused by a missing or non-working gene called Spinal Motor Neuron 1 (SMN1) needed to produce a critical protein for motor neuron survival.
What IS happening BIOlogically with SMA
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that impacts motor neurons—specialized nerve cells in the spinal cord that control voluntary muscle movement. In individuals with SMA, these motor neurons gradually deteriorate due to a deficiency of the survival motor neuron (SMN) protein, which is essential for their health and function. As motor neurons are lost, muscles become weaker and may shrink (atrophy), affecting basic functions such as sitting, walking, swallowing, and breathing.
SMA is caused by a mutation or deletion of the SMN1 gene, which is responsible for producing most of the body’s SMN protein. Humans also have a second gene, SMN2, which can produce a small amount of functional SMN protein. However, SMN2 is less efficient and cannot fully compensate for the loss of SMN1. The number of SMN2 copies a person has can influence the severity of the disease—more copies are often associated with milder forms. SMA exists on a spectrum, with symptoms ranging from severe (impacting infants early in life) to more moderate or later-onset forms.
What treatment Exists?
In recent years, significant advances have transformed the outlook for individuals with SMA. Several FDA-approved treatments—including gene therapy and medications that increase SMN protein production—can slow or even halt disease progression, especially when started early. These therapies aim to address the underlying genetic cause of SMA by either replacing the missing SMN1 gene or enhancing the function of the SMN2 gene. While these treatments are life-changing, they are not cures, and ongoing care—including physical therapy, respiratory support, and nutritional management—remains essential for many individuals living with SMA.
Emma is currently receiving the oral-medication Evrysdi(R). Learn more about it here.
Learn about the incredible organization cure SMA
Cure SMA is a leading nonprofit organization dedicated to the treatment and cure of spinal muscular atrophy. The organization funds groundbreaking research, supports the development of new therapies, and provides resources and support programs for individuals and families affected by SMA on a global and local level. Cure SMA also plays a critical role in advocacy, education, and community building—connecting families, clinicians, and researchers to accelerate progress and improve quality of life for those impacted by the disease.
Pug, Maggie, Emma, and Eli have been beneficiaries of Cure SMA already through incredible literature, care packages, educational support, networking opportunities, and more.