Statistical Analysis Center
Emery-Dreifuss Muscular Dystrophy (EDMD) and Related Diseases Registry
Statistics | Data Management | Coordination

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Welcome to the EDMD Registry
Emery-Dreifuss muscular dystrophy (EDMD) classically presents as skeletal muscle weakness and wasting primarily affecting the shoulders, upper arms and lower legs with contractures of the elbows, ankles and posterior neck. This is usually associated with the eventual development of heart problems. Mutations in the same genes that cause EDMD can lead to related diseases, such as a form of limb-girdle muscular dystrophy, heart problems without significant muscle problems, congenital muscular dystrophy and other variations. Mutations in several genes can cause these disorders, the most common being the emerin gene (EMD) and lamin A/C gene (LMNA). Other genes potentially linked to EDMD and related diseases include SYNE1, SYNE2, TMEM43, TOR1AIP1, SUN1, SUN2 and FHL1.

Researchers at Columbia University have established this patient Registry to develop a database of patients afflicted with EDMD and related diseases. The Registry will enable the research team to answer questions about the disease, such as:
  • What is the natural course of the disease?
  • What are the different variations caused by mutations in the EDMD-linked genes?
  • What process and metrics should be incorporated to track quality of patient care?
  • Does a treatment lead to long-term benefits or harm, including delayed complications?
In addition, the Registry will allow the researchers to contact patients in the event of clinical progress or relevant clinical research studies. Submitting contact information is always optional.

Who can participate in the Registry?
Should I (and/or my child) participate in the Registry?
How will the Registry benefit the patients?
How is my (or my child’s) privacy protected?
What type of data will be collected?
How am I (and/or my child) protected from unethical research?
How do I (and/or my child) participate and register?

Click here to learn more Click here to download instructions for joining the Registry

Department of Biostatistics

Statistical Analysis Center
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sac-biostat@columbia.edu | 212.342.2000
Mailman School of Public Health