According to a story from arkansasonline.com, Rep. Julie Mayberry R-Hensley of the Arkansas General Assembly is sponsoring House Bill 1074. This legislation proposes adding the rare and potentially fatal genetic disorder spinal muscular atrophy (SMA) to the state’s list of diseases that newborns in Arkansas are screened for. Until recently, this disease was not really considered treatable. Therefore, it was not routinely screened in newly born babies.
About Spinal Muscular Atrophy
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.
Screening For Early Intervention
The situation for spinal muscular atrophy patients changed dramatically with the approval of Spinraza in 2016. This was the first treatment for the disease and turned a diagnosis that was once a death sentence into something that could now be managed with early intervention. With this development, Rep Mayberry says that three states are already screening newborns for the disorder. There are also 11 other states that are making plans to start doing so as well, and it is likely that others will ultimately begin to follow suit.
Families of patients visited the legislature to speak out in support of the bill. Dr. Greg Sharp, who is the chief medical officer for Arkansas Children’s Hospital, also made it clear that newborn screening for spinal muscular atrophy could make a huge difference. With early treatment, a child born with the disorder can lead a more normal, healthy, and happy life.
Hopefully, House Bill 1074 will soon be signed into law.
