August is Spinal Muscular Atrophy Awareness Month


Spinal muscular atrophy (SMA) detection screening can help save a child’s life, as the disease can be treated if recognized in time, according to a press release sent to the Budapest Business Journal.

"In the 9 months since the start of the sample program, more than 45,900 newborns have been requested for SMA screening, which is more than 70% of births. Thanks to the operation of the program at the national level and the great social support, so far six babies have been diagnosed with the disease a few weeks after their birth when they were still completely symptom-free,” shares Dr. Borbála Mikos, medical director of the Bethesda Children's Hospital of the Hungarian Reformed Church, and head of the national newborn SMA screening research program.

“Five of them were already able to receive treatment, and their progress has been constant ever since. Babies screened and treated as part of the program start off with a huge advantage compared to those who are diagnosed months later, after the onset of symptoms, so we continue to encourage parents to take advantage of the free screening, which does not involve any extra blood tests or tests for babies,” she adds.

SMA is a rare genetic disease that affects 12-15 newborns per year in Hungary and can lead to irreversible muscle atrophy without adequate therapy. Since the symptoms are difficult to recognize in the first three to four months of a child's life, many babies with SMA are diagnosed late, when the rapid and irreversible loss of the special motor nerves responsible for movement and muscle function has already begun.

Without treatment, children affected by the most severe form of SMA are eventually unable to move, eat or even breathe on their own, as the muscles responsible for these functions atrophy. August is dedicated to SMA awareness month, because the disease, recognized and treated in time, can save the lives of children.

The development of newborn screening for SMA is a milestone in the treatment of the disease. More than 70% of women giving birth now request the free SMA examination performed at the same time as the routine newborn screening, which, through a sample program, is currently still subject to voluntary and parental consent.

The importance of neonatal screening for SMA is shown by the fact that SMA is currently one of the most common genetic causes of death among newborns, especially without appropriate therapy, however if SMA is detected early through neonatal screening and treated immediately, the child will almost certainly be healthy.

Mizse mineral water and Novartis Hungary are participating in the promotion of SMA screening for expecting parents. During the summer, information about SMA and its screening process will be distributed on five million bottles of mineral water.

As part of their cooperation, the two companies will donate an additional HUF 2.5 million to the Bethesda Hospital Foundation and the National Association of People Living with Rare and Congenital Disorders (Rirosz), which will be handed over to the organizations concerned in September.

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