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What causes spinal muscular atrophy?
03-31-2011, 08:55 PM
Post: #1
What causes spinal muscular atrophy?
SMA is an autosomal recessive disease. This means that both males and females are equally affected, and that two copies of the gene, one inherited from each parent, are necessary to have the condition.

A gene called survival motor neuron (or SMN) is found to have an abnormal area (either a deletion or extra copy of the gene) in over 95 percent of cases of SMA. Symptomatic individuals of all ages can be tested through DNA studies typically done from a blood sample.

When both parents are carriers, there is a one in four, or 25 percent, chance, with each pregnancy, to have a child with SMA. Carrier testing for the general population is technically difficult and usually available only if a previously affected child in the family has been studied.

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