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What is Spinal Muscular Atrophy (SMA)?

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steve mike
What is Spinal Muscular Atrophy (SMA)?

What is Spinal Muscular Atrophy (SMA)?


Spinal muscular atrophy (SMA) is a rare genetic disease in which some nerve cells in the spinal cord are affected, causing muscle weakness.


Spinal muscular atrophy (SMA) is a rare genetic disease in which some nerve cells in the spinal cord are affected, causing muscle weakness. This happens because the specific nerve cells in the body that control muscle movement, called motor neurons, deteriorate and stop working.


SMA affects approximately 1 in 10,000/12,000 babies born and can affect any race or gender without distinction. More than 1 in 58 people are carriers of the disease mutation.


What causes SMA?


The survival motor neuron (SMN) protein is vital for motor neurons to function properly. Without the SMN protein, the motor neurons in the spinal cord stop working and the muscles weaken.


In SMA, the main SMN gene, known as SMN1, is defective or missing. There is a second gene, known as SMN2, which acts more like a "boost" and only produces small amounts of SMN protein.


In SMA, not enough SMN protein is made and motor neurons stop working, causing muscles to become weaker. 


What is the cause of SMA?


SMA is usually hereditary, although it can occasionally be caused by a random error in the SMN1 gene.(corti lab)


Babies inherit two copies of the SMN1 gene, one from each parent. People with one healthy and one defective SMN1 gene are known as carriers, and they usually show no symptoms of SMA.


If both parents are carriers, there is a 25% chance that the baby will inherit and develop SMA. 


SMA is a rapidly progressing disease, so every day counts. Its early detection is vital so that the baby receives medical attention as soon as possible and to slow down the progress of the disease. For this reason, it is very important to be attentive to the early signs of the pathology. For all the complete information on the symptoms of SMA, consult https://www.cortilab.org/ 

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