Spinal muscular atrophy is a genetic disorder that affects the nerve cells (neurons) in the spinal cord and brain. These neurons are responsible for controlling muscle movement. Fortunately, if you start an online search, you can explore spinal muscular atrophy and its treatment options.
What is Spinal Muscular Atrophy?
In spinal muscular atrophy (SMA), the neurons are damaged or lost, which leads to muscle weakness and atrophy (wasting).
SMA is an autosomal recessive condition, which means that a person must inherit two copies of the defective gene to develop the condition. The gene that is mutated in SMA is called the survival motor neuron 1 (SMN1) gene. The SMN1 gene produces a protein that is essential for the survival of motor neurons.
SMA is classified into several types, depending on the age of onset and the severity of the symptoms. The most common type of SMA is infantile SMA, which affects infants under the age of 6 months. Infantile SMA is the most severe type of SMA and can be fatal if not treated.
Discover Signs and Symptoms of Spinal Muscular Atrophy
The signs and symptoms of SMA can vary depending on the type of SMA and the severity of the condition. However, some common signs and symptoms include: 1
- Muscle weakness
- Muscle atrophy
- Difficulty breathing
- Difficulty swallowing
- Scoliosis (curvature of the spine)
- Joint contractures (stiffness of the joints)
- Tremors
- Speech problems
SMA can also affect the heart and other organs. In some cases, SMA can be fatal.
Learn About Treatment Options for Spinal Muscular Atrophy
There are several treatment options available for SMA, including: 2
- Nusinersen (Spinraza): This is a medication that is injected into the spinal canal. Nusinersen works by increasing the production of the SMN protein.
- Onasemnogene abeparvovec (Zolgensma): This is a gene therapy that is delivered as a one-time infusion. Zolgensma works by replacing the defective SMN1 gene with a functional copy of the gene.
- Risdiplam (Evrysdi): This is a medication that is taken orally. Risdiplam works by increasing the production of the SMN protein.
These treatments have shown promise in improving the symptoms of SMA and prolonging survival. However, further research is needed to determine the long-term effects of these treatments.
Learn More About Spinal Muscular Atrophy
If you would like to learn more about spinal muscular atrophy, there are several resources available. Consider exploring The SMA Foundation, Cure SMA, and The National Institute of Neurological Disorders and Stroke.