What Is SMA?

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy (SMA) is a rare and aggressive genetic disease that attacks the very foundation of life: movement. It systematically destroys the motor neurons in the spinal cord, robbing infants of the ability to crawl, sit, swallow, and eventually, breathe. Historically, SMA was the leading genetic cause of infant mortality. It was a diagnosis that felt like a closed door, often claiming lives before a child could reach their first birthday.

In the world of SMA, time is the only currency that matters. The trajectory of this disease is decided in the earliest days of life. Every day a child goes undiagnosed is a day that irreversible damage occurs. However, we are currently living through a medical revolution. SMA has moved from a condition of "no hope" to one of "limitless opportunity."

SMA can affect any race or gender.

In order for a child to be born with Spinal Muscular Atrophy, both parents must be a carrier of SMA.
When both parents are a carrier their child has a 1 in 4 chance of being born affected by SMA

Type of SMA

Modern medical intervention has fundamentally shifted the narrative. We are moving away from the old "Type System" (Types 1-4) that once predicted a child's lifespan and limitations. Today, a child's future is no longer determined by their diagnosis, but by the speed of their detection and the immediacy of their treatment. When we intervene early, we aren't just treating a disease, we are rewriting a life story.

Treatments

There are currently three Health Canada-approved treatments for Spinal Muscular Atrophy (SMA): Spinraza, Zolgensma and Evrysdi. These treatments have dramatically changed the outlook for people living with SMA, especially when treatment begins early.

SMA is a genetic neuromuscular disease that affects the muscles used for movement and, depending on severity, can impact abilities such as sitting, walking, eating, swallowing and breathing. SMA does not affect a person’s ability to think, learn or build meaningful relationships.

With newborn screening, earlier diagnosis and advances in treatment and care, there is more hope than ever for individuals and families affected by SMA.

For more information check out www.curesma.org