Spinal Muscular Atrophy
Through the UW Health pediatric orthopedic program in Madison, Wisconsin, our interdisciplinary team provides evaluation and management of children with spinal muscular atrophy, with a focus on preventing or correcting scoliosis and preserving lung function.
What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller).
What Causes SMA?
Most kinds of SMA are caused by a problem with a gene called the SMN1 gene, which does not make enough of a protein so the motor neurons to work normally. These neurons break down and can't send signals to the muscles.
How is SMA Treated?
Although there's no cure for SMA, these treatments can help kids who have it:
- Spinraza™, (Nusinersen) is a new medicine that increases the amount of protein the body needs from the missing SMN1 gene. It works by making the "back-up" gene, the SMN2 gene, look more like the SMN1 gene and produce the needed protein. This is given through a spinal tap. Four doses are given over two months, and then every four months after that. Studies have shown significant improvement in breathing, motor function, and survival.
- Physical therapy, rehabilitation and bracing
- Growth rod placement, which can help straighten and support the spine without cumbersome external bracing
- Spinal fusion surgery
- Muscle-release operations to release stiffness and pain from prolonged wheelchair use