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Duchenne Muscular Dystrophy and Heart Disease

Posted Sep 13 2008 5:20am

There is an interesting article in the 5/6/08, New York Times by Andrew Pollack entitled "Redefining Disease, Genes and All." The article begins by stating that "Duchenne muscular dystrophy may not seem to have much in common with heart attacks." It goes on to say that researchers are finding some of the same genes involved in both conditions.

Having cared for many, many patients with Duchenne muscular dystrophy since 1957, I wonder why the researchers think this is such a startling discovery. It has been long known that patients with both Duchenne and Becker muscular dystrophy, as well as Emery-Dreifuss muscular dystrophy can have major cardiac problems, as can their mothers, who are carriers of the gene.

One mother of a patient with Emery-Dreifuss muscular dystrophy complained of symptons I felt were cardiac, when she brought her son in for a consultation with me. I suspected that the mother had involvement of the heart, yet four cardiologists, including one at a prestigious medical school, did not find evidence of heart disease. They must have been looking at someone else's tests because she was found dead in bed one morning and an autopsy showed massive heart disease.

I have always worried that researchers who worked on specific diseases knew the disease only in the laboratory, but had never seen actual cases. It would seem that there should be a requirement for researchers to spend some time seeing patients, who have the diseases in which they are interested. I think cures for these tragic diseases would be found much more quickly that way.

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