Clinical decision making system for early diagnosis of types of SMA disease
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Abstract (EN)
SMA (Spinal Mascular Atrophy, Loose Infant Syndrome) is a disease that cannot function due to the destruction of the movement nerves located in the center of the spinal cord and the nerve groups that direct the direction. It's a genetic maladjustment. It can be slowed down with the FDA approved "Nusinersen". The definitive solution is to check the SMA gene screening of the married couples. SMA is seen in 4 types. Type 4 is a patient-oriented, mild form of SMA that occurs in adult age. But you may not need to examine it, the problems come from similarity. The other 3 types are separated by function. 1.Non-resident - Never sit (0-6 months) - Age of death <2 2.Seating - Never standing (7-18 months) - Age of death> 2 3.Able to Walk - Standing and city (> 18 months) - Age of death Adult Doctors who encounter children with hypotonia and weakness develop a high rate of suspicion for the diagnosis of SMA. Our aim is to pour this suspicion into a numerical data with the algorithm that we will start from complaints or findings. SMA is to provide rapid diagnosis at the bedside. Scales, digestive and excretory functions, physiological functions, and care methods of infants and children with SMA should be performed without previous examination. In this way, SMA can prolong the life of patients and increase the quality of life.
Author
Çağlayan Onur Taner
Institution
How to Cite
Çağlayan Onur Taner (Master Thesis). Clinical decision making system for early diagnosis of types of SMA disease, 2019, Feyziye Schools Foundation Işık University.
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