Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is caused by a mutation in the SMN1 gene. This mutation results in a loss of motor neurons causing weak and atrophied muscles. Not only does this muscle weakness affect the mobility of the patient, it can impact their ability to breathe and swallow. There are four different forms of the disease, with type 1 and type 2 being the most debilitating. Approximately 1 in every 6,000-10,000 newborns have the condition.
Thankfully, we now have an approved treatment for SMA called Spinraza. Spinraza was approved by the FDA in December of 2016. The drug helps to increase the body’s production of the protein necessary for maintaining motor neuron function. However, to be effective in eliminating patient symptoms, this treatment must be received early.
You can read more about SMA screening in Florida and the Myers family’s story here.
