Spinal Muscular Atrophy

Spinal muscular atrophy (the acronym is SMA) is a degenerative problem that affects the spinal cord and nerves, resulting in muscle weakness and atrophy.

Causes

SMA is an autosomal recessive disorder, which means it can equally affect both men and women and it takes two copies of the gene, one inherited from each parent, to develop the disorder.

It was discovered that a gene called survival motor neuron (the acronym is SMN) have an abnormal area (either through deletion or extra copy of a gene) in over 95 percent of cases of SMA. You can evaluate symptomatic persons of all ages through DNA studies that are done from blood samples.When both parents are carriers, there is a 25 percent (one in four) chance with each pregnancy of having a child with SMA. Carrier testing for the general population are often difficult and usually available only if you have studied a previously affected child in the family.

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