NEW ORLEANS, La. (Ivanhoe Newswire) – Imagine your baby being born healthy and then within months, they start to lose the ability to move their arms and legs, fingers, and toes – this is what happens to infants born with spinal muscular atrophy, or SMA. Without early treatment, most babies will not live to see their second birthday. But now, there’s new hope – an oral medication that can be given at home that literally stops this disease in its tracks.
When little Ryu Koizumi was born in the Philippines, everything seemed perfect. But then, at eight weeks old, things took a turn for the worse.
Ryu’s mother, Hazel says, “He’s losing the muscle strength on his legs.”
With limited access to genetic testing, it took months to figure out what was happening.
“It’s like you lose all your dreams,” expresses Ryu’s father, John.
Diagnosed with SMA, John and Hazel decided to come to the states where new treatments could help save Ryu.
“Because the nerves aren’t speaking to the muscle, then the muscle becomes weak,” explains Child Neurologist at LSU Health Science Center in New Orleans, Ann Tilton, MD.
SMA is caused by a defect in the survivor motor neuron one gene.
Dr. Tilton further explains, “These genes allow the motor neuron to survive. So, if you don’t have that, then you lose the nerves. The most efficient one is called SMN 1 – that’s what’s missing in spinal muscular atrophy.”
Now, the first FDA-approved oral medication to treat SMA – Evrysdi – can turn on the second SMN gene, making it more active. Dr. Tilton can hardly believe what she’s seeing.
“It’s absolutely remarkable that they have developed a medication that can turn on a specific gene to alter the natural course of a disease. I mean, what a world, it’s just absolutely miraculous,” she says in awe.
As for Ryu, his parents now have hope.
“He is showing a lot of progress already. Like, he started to, like, move his fingers a little,” Hazel says with hope.
Another medication was approved for SMA in 2016 but it involves a spinal tap every four months. Evrysdi is the first and only oral medication approved by the FDA. SMA is a genetic disorder that involves both the mother and father to carry the gene. About one in 50 people in the United States actually have the potential to have the SMA gene. Nearly all U.S. states are now screening newborns for SMA, and given the progressive nature of the disease, early awareness and treatment are critical.
Contributors to this news report include: Marsha Lewis, Producer; Matt Goldschmidt, Videographer; Sharon Dennis, Editor.
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Source:
https://www.cdc.gov/nceh/dls/nsmbb_sma.html
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: SMA: A LITTLE BOY’S JOURNEY OF SURVIVAL
REPORT: MB #5339
BACKGROUND: Spinal Muscular Atrophy (SMA) is a group of genetic disorders characterized by the degeneration of motor neurons in the spinal cord and brainstem, leading to muscle weakness and atrophy. SMA is primarily an autosomal recessive genetic disorder, meaning that both parents must carry a mutated gene for their child to inherit the condition. There are different types of SMA, each varying in severity. Type one is the most severe form, typically presenting in infancy. Babies with Type one SMA show profound muscle weakness, and difficulty breathing, and have a significantly shortened lifespan. Type two is usually diagnosed in early childhood. Children with type two SMA can sit without support but may experience difficulties with standing and walking. Life expectancy varies. Type three occurs later in childhood or adolescence, and type four is a milder form of SMA, with symptoms appearing in adulthood.
(Source: https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma
DIAGNOSING: Diagnosing spinal muscular atrophy involves a combination of clinical evaluation, genetic testing, and sometimes additional diagnostic procedures. Given that SMA is a genetic disorder, identifying the underlying genetic mutations is a key aspect of the diagnostic process. The main steps in diagnosing SMA consist of a clinical evaluation such as medical history and physical exam screenings, genetic testing to help determine the type of SMA, carrier testing from family members, prenatal testing before the baby is born, an EMG and nerve conduction study, and muscle biopsies.
(Source: https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma#diagnosis-and-tests
NEW TECHNOLOGY: Studies out of the Children’s Hospital of Philedelphia show that the treatment called Zolgensma makes up for missing or nonworking SMN1 genes, which help motor neurons work efficiently. This new gene tells the motor neuron cells to create more survival motor neuron proteins that the motor neuron cells need in order to survive and support regular muscle function.
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Zen Logsdon Edie Elkinson
zlogsdon@coh.org edie.elkinson@syneohealth.com
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
