My uncle died of ALS several years ago and I was wondering if there has been any narrowing down of the cause of ALS and whether there is a genetic test that could tell if I am prone to ALS. Thanks in advance for your help!
Yes, there are genetic tests for ALS. However, ALS shows an inherited pattern in only 5 to 10 percent of cases. In the familial form, only one parent can carry the gene responsible for the disease. A mutation in the superoxide dismutase 1 (SOD1) enzyme is seen in 20 percent of all familial cases. This means that about 80 percent of familial cases are due to other genetic defects, not identified yet. Hence genetic testing does not carry much importance in ALS diagnosis today. When other genes are identified, genetic testing may have some value. Take care!
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