Spinal muscular atrophy is a rare genetic disorder that presents itself in different types and symptoms. Fortunately, treatments exist, offering hope and improved quality of life for patients and families. Discover groundbreaking spinal muscular atrophy treatments today.
What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) affects the nerve cells (neurons) in the spinal cord and brain. These neurons control muscle movement, and when they are damaged or lost, it leads to progressive muscle weakness and atrophy. SMA is caused by a mutation in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. Without enough SMN protein, the nerve cells in the spinal cord and brain cannot function properly, leading to the symptoms of SMA.
SMA is classified into several types based on the age of onset and severity of symptoms. The most common type is infantile SMA (SMA type 1), which affects infants and is the most severe form of the disorder. Other types include intermediate SMA (SMA type 2), which affects children and adolescents, and adult-onset SMA (SMA type 4), which affects adults. 1
SMA is a progressive disease, meaning that the symptoms worsen over time. In infants with SMA type 1, muscle weakness is usually noticeable within the first few months of life. They may have difficulty lifting their head, rolling over, and sitting up. As the disease progresses, the weakness spreads to the arms and legs, and eventually affects the muscles used for breathing and swallowing. SMA type 2 and SMA type 4 typically have a slower progression, with symptoms appearing later in childhood or adulthood.
Spinal Muscular Atrophy Treatments: Options and Considerations
Until recently, there were no effective treatments for SMA. However, in recent years, several new therapies have been developed that have significantly improved the outlook for individuals with this condition. These treatments include: 2
- Nusinersen (Spinraza): Nusinersen is an antisense oligonucleotide that increases the production of SMN protein. It is administered via intrathecal injection (injection into the spinal canal) and has been shown to improve motor function and survival in infants and children with SMA.
- Onasemnogene abeparvovec (Zolgensma): Onasemnogene abeparvovec is a gene therapy that delivers a functional copy of the SMN1 gene to the body. It is a one-time treatment that has been shown to be highly effective in improving motor function and survival in infants with SMA.
- Risdiplam (Evrysdi): Risdiplam is an oral medication that increases the production of SMN protein. It has been shown to improve motor function and survival in infants, children, and adults with SMA.
The choice of treatment for SMA depends on several factors, including the type of SMA, the age of the individual, and the severity of symptoms. It is important to work closely with a healthcare provider to determine the best treatment option.
Spinal Muscular Atrophy Treatment Benefits: Improved Quality of Life
The new treatments for SMA have significantly improved the quality of life for individuals with this condition. These treatments have been shown to improve motor function, increase survival, and reduce the need for respiratory support. As a result, many individuals with SMA are now able to live longer, more independent lives.
In addition to the physical benefits of treatment, there are also significant emotional and psychological benefits. For individuals with SMA, the ability to gain strength and independence can have a profound impact on their self-esteem and overall well-being. Furthermore, the availability of effective treatments has given hope to families affected by SMA and has led to increased awareness and support for the SMA community.
Learn More About Spinal Muscular Atrophy
For more information about spinal muscular atrophy, please visit the following resources:
- Spinal Muscular Atrophy Foundation
- National Institute of Neurological Disorders and Stroke
- Cure SMA