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Does it Run in the Family?
On being told their child has a genetic disorder such as DMD or BMD, bewildered parents often ask, “But it doesn’t run in the family, so how could it be genetic?”
DMD can run in a family, even if only one person in the biological family has it. This is because of the ways in which genetic diseases are inherited.
Both DMD and BMD are inherited in an X-linked pattern. That means the gene that sometimes contains a mutation causing these diseases is on the X chromosome.
Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. Girls get two X chromosomes, one from each parent.
Each son born to a woman with a dystrophin mutation on one of her two X chromosomes has a 50 percent chance of inheriting the flawed gene and having DMD or BMD. Each of her daughters has a 50 percent chance of inheriting the mutation and being a carrier. Carriers usually have no disease symptoms but can have a child with the mutation or the disease. DMD and BMD carriers are at risk for cardiomyopathy (see "In what other ways do DMD and BMD affect the body?").
How can a family with no history of DMD or BMD suddenly produce a son with the disease? There are two possible explanations:
The genetic mutation leading to DMD or BMD may have existed in the females of a family for some generations without anyone knowing it. Perhaps no male children were born with the disease, or, even if a boy in an earlier generation was affected, relatives may not have known what disease he had.
The second possibility is that the child with DMD or BMD has a new genetic mutation that arose in one of his mother’s egg cells. (Since this mutation isn’t in the mother’s blood cells, it’s impossible to detect by standard carrier testing.)
Once a mother gives birth to a child with DMD or BMD, there’s always the possibility that more than one of her egg cells has a dystrophin gene mutation, putting her at higher than average risk for passing the mutation to another child.
Once the new mutation has been passed to a son or daughter, he or she can pass it to the next generation.
A man with DMD or BMD can’t pass the flawed gene to his sons because he gives a son a Y chromosome, not an X. But he’ll certainly pass it to his daughters, because each daughter inherits her father’s only X chromosome. They’ll then be carriers, and each of their sons will have a 50 percent chance of developing the disease, and so on.
A good way to find out more about the inheritance pattern in your family is to talk to your MDA clinic physician or a genetic counselor. Also see MDA’s booklet, “Facts About Genetics and Neuromuscular Diseases.”
Females and DMD
Why don’t girls usually get DMD or BMD? When a girl inherits a flawed dystrophin gene from one parent, she usually also gets a healthy dystrophin gene from her other parent, giving her enough of the protein to protect her from the disease. Males who inherit the mutation get the disease because they have no second dystrophin gene to make up for the faulty one.
However, although girls don’t usually get the full effects of DMD or BMD, some females with the gene flaw are somewhat affected. A minority of females with the mutation are manifesting carriers, who usually have a mild form of the disorder.
For these women, the dystrophin deficiency may result in weaker muscles in the back, legs and arms that fatigue easily. Some may even need a wheelchair or other mobility aids. Manifesting carriers may have heart problems, which can show up as shortness of breath or inability to do moderate exercise. The heart problems, if untreated, can be quite serious, even life-threatening.
It’s wise for any potential female carrier of DMD or BMD to get a full range of diagnostic tests to find out her status. Then, if she is a carrier, regular strength evaluations and close cardiac monitoring can help her manage any symptoms that may arise.
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