SMA facts: SMA is caused by a missing or abnormal (mutated) gene known as survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein in the body called survival motor neuron (SMN) protein. In a person with mutated genes, this protein is absent or significantly decreased, and causes severe problems for motor neurons. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, nerve cells may shrink and eventually die without this protein, resulting in muscle weakness. As a child with SMA grows, it is difficult for his/her weakened muscles to keep up with the demands of daily activities. The resulting weakness can also lead to bone and spine changes that may cause breathing problems and further loss of function. Patina Winston
Posted on: Sun, 04 Aug 2013 17:27:17 +0000
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