The PLN mutation is a hereditary disease and is therefore passed on from generation to generation. The mutation inherits an autosomal dominant inheritance. This means that if someone has the predisposition, they have a 50% chance of passing on the predisposition to each of their children. The predisposition occurs equally often in men and women. Probably the mutation has been able to spread in this way because it usually only manifests itself after the child’s fertile age. Most carriers have already had children before they develop any symptoms.
If you or a family member are diagnosed, you will have a lot of questions. Should I or other relatives be tested? This is a very personal choice. Some people worry about insurances or mortgages. The rules about this are different by country.
We think testing is important. Maybe you have no complaints, but if your are tested and appear to be a carrier, you can adjust your lifestyle and go regularly to the doctor for check ups. Or maybe the scientist find a treating method that needs to be started from a very early stage.
If you have any questions, please don’t hesitate to contact us!