P4.10 Duchenne/Becker in the family: are women aware of the potential risks?

Abstract

Background: Duchenne muscular dystrophy (DMD) is the most common inherited neuromuscular disease. After identification of the mutation in the index patient, family members can be reliably investigated. Carriers should be informed about their risk of having offspring with the disease and about their own risk for cardiomyopathy for which regular cardiac surveillance is recommended. In a small country like the Netherlands with well organized genetic services, one would expect that most DMD families are adequately informed about the above mentioned risks for carriers. We have investigated whether women at risk had been tested at a molecular level. Method: In the national Duchenne/Becker database 311 DMD and 99 BMD patients/families had been registered up to July 1, 2009. These families were asked to list the number of sisters and maternal aunts of the DMD/BMD patient and anything that was known about their genetic status and that of the mother. This information was compared with the information known at the genetic laboratory. Findings: Thirty-five out of 104 adult sisters/maternal aunts of DMD patients with a 50% risk of being a carrier and 45 out of 148 adult women with a 4.3% risk due to germ line mosaicism for DMD had not been tested by DNA analysis. Conclusion: Our study indicates that about one third of the potential carriers have not been tested. Given the possible far-reaching clinical consequences of being a carrier, further studies are needed to investigate the reasons why potential female carriers have not been tested.