When mothers are carriers of the Duchenne or Becker muscular dystrophy gene, it is important that doctors be aware of possible cardiac or heart problems that can occur. Unfortunately, with the fragmentation now occurring in American medical care, the mothers' heart problems often get little or no attention. If a mother sees her general doctor, an internist or cardiologist and a family history is not taken, he or she is not going to know about a son with muscular dystrophy. Even if the doctor knows this, the mother's heart problems may not be connected with the fact that she is a carrier of the gene. Unfortnately, in the U.S., few medical schools and training programs place much emphasis on neuromuscular disorders. I have had to fight with quite a few internists and cardiologists to be sure the mothers get adequate cardiac care. The U.S. is very far behind other countries, as in Europe, Turkey, Tunis, Japan, and China about caring for both the patients with neuromuscular disorders and their mothers.
Mothers of boys with Emery-Dreyfuss muscular dystrophy may have to have a pacemaker put in place, just as their sons should have in their teens or early twenties. If a pacemaker is not inserted, a sudden death may occur. I wish there was a way we could educate more physicians about neuromuscular disorders. Anesthesiologists, too, must be aware of a patient's muscle disease or a family history of a neuromuscular disorder. Malignant Hyperthermia can be a real risk in some of these patients if certain anesthetics are used. So always let your doctors know when there is a family history of a neuromuscular disorder. It could be lifesaving for you and other family members.