arlayne Posted 11.04.09 | My adult daughter began showing signs of this type of dystonia about 8 years ago. She is now wheelchair bound, has hearing and visual difficulties. Some of the pain is numbed with botox and baclofene, but doctors are not well informed about this condition and she had been misdiagnosed for years. Current physicians suddenly need scientific evidence to continue her care. We suspect that earlier physicians (and/or we don't look Jewish enough to convince them) wrote negatives in submitting their records they'd kept on her. Is there a way for me to be tested for the DYT1, DYT6, the DYT7, and any other designators of the Ashkenazi markers and to be able to submit a user friendly report to them, if I am found to be a carrier? |
Jordanna Posted 11.16.09 | There are different types of dystonia as well as a number of genetic conditions that have dystonia as a feature.
Early-onset primary dystonia (DYT1) is responsible for about 15-50% of cases of early-onset dystonia in people who are not Ashkenazi Jewish, and about 80-90% of cases in people who are Ashkenazi Jewish. As such, a person does not have to be of Ashkenazi Jewish ancestry to be affected.
We recommend that your daughter meet with a medical geneticist, who is a doctor that specializes in genetic disorders. A medical geneticist will perform a physical exam as well as review the family history and medical records. Based on this evaluation, the MD geneticist can discuss with you and your family all of the available and appropriate genetic testing options (including research testing). You can find a medical geneticist at the American College of Medical Genetics website.
The Dystonia Foundation also has a directory of health professionals that specialize in dystonia. |