First SMA Patient Started Treatment at PAU Hospital

09.05.2023

PAU Hospital achieved another first by initiating treatment for the first patient diagnosed with SMA.

PAU Hospital Head of Pediatric Neurology Department Assoc. Prof. Dr. Olcay Güngör explained SMA disease and its treatment; "Spinal Muscular Atrophy, or SMA; is an inherited disease that affects nerve cells. It is a progressive muscle disease and leads to the melting of voluntary muscles. It is seen in every 10 thousand births in the world and in 6 thousand births in Turkiye. Early diagnosis is extremely important for the treatment process. Therefore, the earlier treatment is started, the better the response will be. There are 4 types of SMA; the most severe type is SMA Type 1. The disease shows its symptoms up to 6 months. In some patients, symptoms may start in the prenatal period. The majority of babies with SMA Type 1 have delayed head control and weakness in arm and leg movements. They may not be able to sit without support and may not be able to acquire basic skills such as swallowing and sucking. They may need respiratory support due to respiratory muscle involvement, difficulty in coughing and respiratory tract infections. The average life expectancy without treatment in the majority of patients is two years.

Following recent practices of the Ministry of Health, screening tests are routinely performed on parents before marriage and on the baby after birth. This has increased the chances of early diagnosis and treatment. In addition, since 2017, the Ministry of Health has been covering the treatment of Nursinersen sodium (Spinraza) free of charge during the diagnosis and treatment phase of all patients. In this context, "SMA Patients Treatment Center Unit" was established and approved within the Pediatric Neurology Clinic at Pamukkale University Faculty of Medicine. In the unit where SMA patients are diagnosed and followed up, our first SMA patient was also treated. Thus, it is very pleasing for both the patients and our hospital that the patients we accept from our province and neighboring provinces are treated in our hospital in the process after the diagnosis stage."

Prof. Dr. Selçuk Yüksel, Vice Rector and Faculty Member of the Department of Pediatrics, said that he was very happy for the opening of the central unit for our hospital and for our children who will not have to go to other provinces in our region for SMA treatment and thanked everyone who contributed.

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