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August is Spinal Muscular Atrophy (SMA) Awareness Month. Organizations like Cure SMA work diligently to educate the public about this genetically inherited disease that is the leading cause of death of infants up to 2 years of age. 1 in 50 Americans, regardless of gender or race, can be a carrier of this recessive gene. Being informed and spreading knowledge about the probability, risks, and effects of this disease is helpful for family planning and in the pursuit of 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 in the spinal cord that are 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 newborns have this disease until they do not meet the typical developmental milestones. Read the full article.
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