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
- Zolgensma is the new gene therapy that prevents further motor neuron and muscle degeneration by replacing the defective or missing gene (SMN1) that causes Spinal Muscular Atrophy (SMA). The FDA announced its decision about this drug on May 25, 2019. Zolgensma is indicated for patients under the age of 2 years with all types of SMA. Eligible patients cannot have antibodies to the virus, AAV9 or adeno-associated virus 9 as AAV9 is an important part of how Zolgensma works as gene therapy. Zolgensma is provided to the patient during a 60-minute infusion procedure. Only one dose is needed.