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Symptoms of spinal muscular atrophy (SMA) vary greatly depending on the type. Children with more severe forms of SMA usually have more severe symptoms that are noticeable within the first six months of life. Those with milder forms have less severe symptoms that may not be noticeable until the child is 18 months or older.
Symptoms of SMA may include:
SMA is an autosomal recessive disease. This means that (most of the time) both parents must carry the genetic mutation for a child to have the condition.
The gene affected in SMA is the “survival of motor neuron” gene (SMN1 and 2). In 95 percent of SMA cases, both copies of the SMN1 gene are missing.
If someone in your family has SMA, your chance of being an SMA carrier significantly increases. When both parents are carriers, there is a one in four (25 percent) chance with each pregnancy that they will have a child with SMA.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”