SE Texas Times

August 19, 2024

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. One in 50 Americans, regardless of 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), which is responsible for muscle development necessary to walk, eat, and breathe. This recessive gene affects nerves within 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 typical developmental milestones.

There are five types of SMA. Each type is based on the age of the individual affected, the onset of muscular atrophy, and the highest milestone achieved. Type 0 is very rare and severe, with symptoms beginning prior to birth and seen as decreased fetal movement in the weeks before delivery. Type I, also known as Werdnig-Hoffman disease, is typically diagnosed within the first six months of a child’s life. This form accounts for 60% of all SMA cases and often leads to respiratory failure due to debilitated muscle development.

Type II SMA is usually diagnosed after six months but before two years of age. Children with this form can sit up on their own but do not meet developmental milestones for walking skills, requiring wheelchair use. SMA Type III is diagnosed after 18 months up to three years old; these individuals may initially walk but lose this ability over time. The rarest form, Type IV SMA, affects individuals around 35 years old (some cases as early as 18) resulting in mild motor impairment.

One treatment approach increases survival motor neuron protein levels in the body through "SMN-based" or "SMN-enhancing" methods targeting either SMN2 gene production or repairing/replacing mutated SMN1 genes directly. On December 23, 2016, the Federal Drug Administration (FDA) approved SPINRAZA (Nusinersen), a therapy available for all ages and types of SMA.

For more information about treatments or general knowledge about SMA visit Cure SMA Advocates.

“If you have questions regarding any information mentioned in this week’s article,” said State Representative Todd Hunter from District 32 “please do not hesitate to call my Capitol or District Office.” Rep Hunter represents Aransas County and part of Nueces County; he can be contacted at todd.hunter@house.texas.gov or at 512-463-0672.

Rep Hunter concluded: “Let’s continue to bring awareness to SMA to the public in hopes of continuous breakthroughs in treatments and healthy babies.”