Spinal muscular atrophy (SMA) is a rare disorder that causes muscle weakness and atrophy. Given that August is SMA Awareness Month, it’s an ideal time to learn more about the leading genetic cause of infant death. Early diagnosis and treatment can significantly improve outcomes for individuals with SMA, and new treatments offer hope for those affected by this condition. Learn everything you need to know about spinal muscular atrophy today!
What is Spinal Muscular Atrophy (SMA)?
Spinal muscular atrophy (SMA) is a genetic disorder that affects the nervous system and leads to progressive muscle weakness and atrophy. It is caused by a mutation in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. SMN protein is essential for the function and survival of motor neurons, which are the nerve cells that control muscle movement. Without enough SMN protein, motor neurons degenerate and die, leading to muscle weakness and atrophy. 1
There are several types of SMA, categorized based on when symptoms arise and how severe they are:
- Type 1: Also known as infantile SMA, type 1 is the most common form of the disorder and the leading genetic cause of infant death.
- Type 2: Intermediate SMA typically occurs in children between six and 18 months of age. Muscle weakness ranges from moderate to severe, and many cases also feature respiratory issues.
- Type 3: Juvenile SMA can occur during childhood or even adolescence. Individuals with this type can walk but may struggle with stairs or certain movements.
- Type 4: This milder, rare type of SMA develops in adulthood and features mild to moderate muscle weakness.
SMA is a debilitating condition that can significantly impact an individual’s quality of life. Symptoms may include muscle weakness, difficulty breathing, swallowing problems, and skeletal deformities. In severe cases, SMA can lead to respiratory failure and death. However, with early diagnosis and treatment, the prognosis for individuals with SMA has improved significantly in recent years.
SMA Awareness Month: Early Diagnosis Matters
August is SMA Awareness Month, a time dedicated to raising awareness about this rare condition and the importance of early diagnosis. Early diagnosis and intervention are crucial for improving outcomes for individuals with SMA. The earlier treatment is started, the more effective it can be in slowing the progression of the disease and improving motor function.
Newborn screening for SMA is now available in many countries, which has led to earlier diagnosis and treatment. Newborn screening involves testing babies for genetic disorders shortly after birth. If SMA is detected through newborn screening, treatment can be started immediately, even before symptoms appear. This can make a significant difference in the long-term prognosis of the child.
In addition to newborn screening, regular monitoring and surveillance are important for individuals with SMA. This may include regular visits to a neurologist and a respiratory therapist. Physical therapy can also reinforce muscle strength. Early detection of any new or worsening symptoms can help ensure prompt treatment and management.
New Treatments Offer Hope for SMA Patients
In recent years, there have been significant advancements in the treatment of SMA. The development of new therapies has brought hope to individuals with this condition and their families. These therapies aim to increase the levels of SMN protein in the body, thereby slowing the progression of the disease and improving motor function.
One such therapy is nusinersen (Spinraza), which is an antisense oligonucleotide that increases the production of SMN protein. 2 Nusinersen is administered through intrathecal injections into the spinal canal. It has been shown to improve motor function and survival in individuals with SMA, particularly when started early.
Another promising therapy is gene therapy, which involves replacing the faulty SMN1 gene with a functional copy. Zolgensma (onasemnogene abeparvovec) is a gene therapy that has been approved for the treatment of SMA in infants. It is a one-time treatment that has shown significant improvements in motor function and survival in clinical trials.
These new treatments have transformed the outlook for individuals with SMA. Early diagnosis and access to these therapies can significantly improve their quality of life and long-term prognosis.
Learn More About SMA
As August continues, educating yourself further on SMA can make a big difference. The campaign to raise awareness for this disorder helps improve research, treatments, and support methods. Just by sharing what you’ve learned, you can make the lives of individuals with SMA brighter!