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SMA Carrier Detection Genetic Disorders  image

SMA Carrier Detection Genetic Disorders

Test Code -HT2202

Spinal Muscular Atrophy (SMA) is a serious inherited genetic disorder that affects the muscles, causing weakness and progressive loss of movement. It occurs due to mutations in the SMN1 gene, which leads to a deficiency of a protein essential for the survival of motor neurons—nerve cells that control muscle movement. Without enough of this protein, muscles gradually lose strength, impacting the ability to walk, eat, or even breathe. SMA can range from mild to severe, with symptoms often appearing in infancy or early childhood. Early diagnosis through genetic testing can significantly improve outcomes through timely intervention and treatment.

Description


Spinal Muscular Atrophy (SMA) is a serious inherited condition that primarily affects the motor neurons—specialized nerve cells in the spinal cord responsible for controlling muscle movement. When these neurons deteriorate, individuals experience progressive muscle weakness, loss of mobility, and in severe cases, difficulty with essential functions like breathing and swallowing. The condition is caused by mutations in the SMN1 gene, which plays a vital role in producing a protein required for motor neuron survival. Without this protein, the neurons gradually die off, and the muscles they control begin to waste away. SMA is among the leading genetic causes of death in infants. However, many carriers of the faulty gene are completely unaware of their status, as they show no signs or symptoms and often have no known family history. This makes SMA especially difficult to detect without proactive genetic screening.SMA carrier detection is a simple genetic test that can identify individuals who carry a faulty copy of the SMN1 gene.The test can be done with a quick blood sample, and it offers life-changing information for couples planning a family. Carrier screening for SMA is now recommended for all individuals considering pregnancy, regardless of ethnicity or family background. 

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