August is recognized as Spinal Muscular Atrophy (SMA) Awareness Month, with organizations such as Cure SMA working to educate the public about this genetic disease. SMA is a leading cause of death in infants under two years old. Approximately one in 50 Americans can be carriers of the recessive gene responsible for SMA, regardless of gender or race. Increased awareness about the risks and effects of SMA can help families make informed decisions and support efforts to find a cure.
SMA results from a mutation in the survival motor neuron gene 1 (SMN1), which plays a key role in muscle development needed for walking, eating, and breathing. The mutated gene affects nerves within the spinal cord that produce protein necessary for normal muscle growth. This leads to hindered muscle development and loss of nerve function within muscles. Since SMA only impacts physical development, it may not be detected in newborns until they miss expected developmental milestones.
There are five types of SMA, categorized by age at onset and severity. Type 0 is rare and severe, with symptoms appearing before birth as decreased fetal movement. Type I, or Werdnig-Hoffman disease, is usually diagnosed within six months after birth and is both the most common and most severe form, accounting for 60% of cases. Infants with Type I often face respiratory failure due to weakened muscles required for swallowing or breathing.
Type II typically appears between six months and two years old; affected children can sit up but do not develop walking skills and often require wheelchairs. Type III emerges after 18 months up to three years old; while initial walking milestones may be met, mobility declines over time, potentially leading to wheelchair use. The rarest form is Type IV, which presents mild motor impairment beginning around age 35 but sometimes as early as 18.
Treatment approaches focus on increasing survival motor neuron protein levels in the body through “SMN-based” or “SMN-enhancing” therapies. Many treatments target the SMN2 gene to boost usable protein production or aim to repair or replace the mutated SMN1 gene directly. On December 23, 2016, the Food and Drug Administration approved SPINRAZA (Nusinersen), making it available for all ages and types of SMA patients—the first therapy approved for those with this genetic mutation.
State Representative Todd Hunter encouraged constituents seeking more information about treatment options or general questions about SMA to contact his offices at any time.
“Let’s continue to bring awareness to SMA to the public in hopes of continuous breakthroughs in treatments and healthy babies.”
Rep. Hunter represents Aransas County and part of Nueces County.
