August is Spinal Muscular Atrophy (SMA) awareness month. Organizations like Cure SMA work diligently to educate the public about this genetically-passed disease that is the leading cause of death of infants up to 2 years of age. 1 in 50 Americans, despite gender or race, can be a carrier of this recessive gene. Being informed and spreading knowledge on the probability, risks, and effects of this disease is helpful in family planning and the pursuit of finding a cure.
SMA is caused by a mutation of the survival motor neuron gene 1 (SMN1) that is responsible for muscle development necessary to walk, eat, and/or breathe. This recessive (non-dominant) gene affects nerves with the spinal cord that is responsible for producing the protein necessary for normal muscle growth. When the SMN1 gene is mutated, it hinders muscle development and causes the nerves within the muscles to die. Since SMA only affects physical development, it is hard to recognize if newborn has this disease until they do not meet the typical developmental milestones. Read the full article.