Genetic test for spinal muscular atrophy should be offered to all couples, says the ACMG
Tuesday, December 9, 2008 - 17:07
in Health & Medicine
Carrier screening for spinal muscular atrophy (SMA)—a serious genetic disease affecting approximately 1 in 10,000 infants that causes progressive muscle weakness and death—should be made available to all families, according to a new practice guideline issued by the American College of Medical Genetics (ACMG). The statement appears in the November 2008 issue of Genetics in Medicine, the official peer-reviewed journal of the American College of Medical Genetics. In the past, tests to identify carriers of the gene responsible for SMA have generally been offered only to people with a family history of the disease.