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For most people diagnosed with ALS, the cause of their disease is unknown. Sometimes, however, a genetic cause can be identified that explains why a person developed ALS. When a person has no known family history of ALS or frontotemporal dementia (FTD), a genetic cause can be found about 10% of the time.
Since the discovery of the first ALS-related gene, SOD1, in 1993, researchers have identified variants (sometimes called mutations) in over 40 genes that either cause ALS or increase a person’s likelihood of developing ALS. More genetic variants with ALS implications continue to be identified by researchers. |
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Genetic Counseling and Testing
Genetic testing for ALS can provide helpful information both for people who have been diagnosed with ALS and for people who may be at risk for genetic ALS. Testing may let you know whether you have a genetic variant associated with ALS.
Genetic testing is a very personal decision that can have implications for you and your family members. Meeting with a genetic counselor is strongly recommended for anyone considering ALS genetic testing.
You can learn more about genetic counseling and testing on our Genetic ALS page.
Genetic testing is a very personal decision that can have implications for you and your family members. Meeting with a genetic counselor is strongly recommended for anyone considering ALS genetic testing.
You can learn more about genetic counseling and testing on our Genetic ALS page.
Research and Treatment For Genetic ALS
Decades of research and discovery have led to meaningful progress in genetic ALS in recent years. The FDA approval of tofersen (Qalsody)—the first therapy for ALS that targets variants in a specific gene—marked an important milestone in the field.
Tofersen has slowed disease progression for some people with a variant in the SOD1 gene. Researchers are currently trying to replicate this approach in clinical trials with experimental drugs that target variants in other genes.
Considerations for genetic research, treatment, and testing are very different for people who have been diagnosed with ALS and people who do not have symptoms but may be at genetic risk for ALS. Click on one of the buttons below to learn more.
Tofersen has slowed disease progression for some people with a variant in the SOD1 gene. Researchers are currently trying to replicate this approach in clinical trials with experimental drugs that target variants in other genes.
Considerations for genetic research, treatment, and testing are very different for people who have been diagnosed with ALS and people who do not have symptoms but may be at genetic risk for ALS. Click on one of the buttons below to learn more.
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