Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are devastating disorders which result from mutations in the gene that encodes dystrophin, a skeletal muscle protein. We have developed a method to rapidly, robustly, and economically perform direct sequence analysis of the entire coding and regulatory regions of the dystrophin gene, greatly expediting the characterization of mutations of many dystrophinopathy patients. In addition, this direct sequence analysis allows us to determine whether variations in the gene which are not known to be disease-causing (called "polymorphisms") have some influence on the severity or course of the disease.
Using this methodology in a project funded by the National Institutes of Health, we identify the mutations responsible for DMD and BMD in a large cohort of patients. From this same cohort, we obtain a standardized and thorough phenotypic characterization by performing standardized clinical examinations. By correlating the genetic variation with severity of disease, we hope to gain a better understanding of how genetic mechanisms influence the disease.
To enroll in the UDP's Online Duchenne and Becker Muscular Dystrophy Patient Registry.
The United Dystrophinopathy Project (UDP) Patient Registry gathers basic information about patients with Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and Intermediate Muscular Dystrophy (IMD). Having this information in one place should make it easier for researchers to perform clinical trials to study these diseases.
You can enroll online by clicking here. You will be be asked to provide consent for participation. and then you will be asked to create a login name and password, and verify your email address. It takes about 5 mintes to fill out the form with information about your child, or yourself. You will be able to use the password to update your child's profile by using the same login name/password.
By entering data in this registry, you are consenting to participate in a research project. Information about this project and your participation can be found on the Information and Consent page. Please note that if you have more than one child affected by Duchenne or Becker Muscular Dystrophy, please fill out a registration form for each child.
Please Note: You do not have to add your son's name (or your name) to the online registry if either:
1. You have previously enrolled in the United Dystrophinopathy Project (UDP) natural history and phenotyping study.
2. You have previously submitted information to the United Dystrophinopathy Project via our paper form.