Understanding the Genetic Connection and Impact of SMA in Family DNA
SMA most commonly occurs when the SMN1 gene is missing or not working properly, which can lead to low levels of survival motor neuron protein. This protein is essential for the health of motor neurons, the nerve cells that control muscle movement. When the body does not have enough SMN protein, motor neurons can weaken or atrophy, leading to progressive muscle weakness, mobility challenges, breathing concerns, swallowing difficulties, and daily independence needs. Insufficient SMN protein causes motor neuron loss in the spinal cord and weakness of skeletal muscles.
Understanding the family DNA connection is important because Spinal Muscular Atrophy is usually inherited in an autosomal recessive pattern. This means a child typically must inherit two non-working copies of the SMN1 gene, one from each parent, to have SMA. Parents who carry only one non-working copy of the gene usually do not have symptoms, which means many families may not know they are SMA carriers until genetic testing is done or a child is diagnosed. Approximately 1 in 50 people is a genetic carrier for SMA, and when two carriers have a child together, there is a 25% chance the child will have SMA.
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