Health Times
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February 28 is the 15th International Rare Disease Day. SMA (Spinal Muscular Atrophy) is a rare and severe disabling and fatal neuromuscular disease characterized by progressive muscle weakness and atrophy caused by motor neuron degeneration; it does not affect cognition and intelligence[1][2] [3]. It is the leading genetic cause of death in infants under two years of age [4]. Muscle weakness, limb weakness, and limited exercise capacity are the main disease symptoms of SMA [5].
In December 2021, Health Times published a story about a boy with SMA who was stoned. Many babies have been able to sit stably by themselves when they are 6 months old, but at 8 months, the stone still seems to have no bones, crooked when sitting, and the two legs can’t move at all, only the feet can shake slightly. Stone was diagnosed with SMA in 2018, and doctors said that Stone may not live to be 2 years old. Since the SMA specific drug was not yet on the market in China at that time, the treatment could only be based on rehabilitation training. Stone’s rehabilitation training from 9:00 am to 10:00 am and 3:00 pm to 4:30 pm was unstoppable. Grabbing the pole, standing on the wall, squatting, throwing the ball… Although this series of rehabilitation exercises is not easy for a 4-year-old stone to do, he has been insisting on it every day for nearly 3 years.
The special drug for SMA is finally on the market
In 2019, Nosinagen Sodium Injection was launched in China , the world’s first disease-modifying drug for SMA.
A child’s father once told Health Times that when the patient received Nosinathan sodium injection treatment, he needed 4 injections in the first 2 months, and then every 120 days, and he needed lifelong injections. Medication. This means that patients will need 6 injections in the first year of treatment and 3 injections per year thereafter.
Finally, there is good news! In December 2021, Nosinagen Sodium will be included in the National Medical Insurance Drug List; in January 2022, the new version of the Medical Insurance List will be implemented. All of this has greatly improved the treatment and payment status of the vast patient group, and the level of SMA diagnosis and treatment has also been greatly improved.
Learn about the symptoms of SMA and care for the rare disease community
SMA is caused by the SMN1 gene (motor nerve Metasurvival gene 1) caused by homozygous deletion or mutation [3]. According to the age of onset and the maximal motor function obtained, SMA is divided into types I, II, III, and IV[6]. The clinical manifestations are as follows:
Type I: onset within 6 months after birth , the maximum exercise capacity can not achieve sitting alone, most children die of respiratory failure within 2 years of age.
Type II: Onset at 6-18 months, the maximum exercise ability can reach to sit alone, but cannot stand or walk alone. As the disease progresses, complications such as respiratory insufficiency and scoliosis appear.
Type III: Onset after 18 months, can walk alone. Proximal-dominant muscle weakness develops with age, and eventually partial loss of the ability to walk alone.
Type IV: Adult-onset, proximal weakness, and slow progression. [6]
In order to further improve the science of SMA and let the public better understand the characteristics of SMA, Beijing Meier SMA (Spinal Muscular Atrophy) Care Center and Bojian China jointly initiated the The “Power of Sunshine” SMA patient care action aims to gather forces from all parties to carry out the popularization of Spinal Muscular Atrophy (SMA) disease on a larger scale, and to promote all-round care from “screening, diagnosis, treatment, and protection” to growth education, Ultimately, it helps the patient group to improve the quality of life and realize the value of life.
The first stage of this care action will be the grand launch of the event theme “The Power of the Sun” designed with the image of sunflowers, so that more SMA patients can bask in the sunshine of treatment benefits and social care , blooming vigorously like a sunflower.