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DNA Carrier Testing for Muscular Dystrophy
The Importance of DNA Carrier Testing for Muscular Dystrophy
Muscular dystrophy is an inherited disease, which results in the progressive weakening of the victim’s muscles. This leads to the loss of muscle function with suffers of muscular dystrophy becoming severely handicapped and facing a shortened lifespan. Unfortunately, there is currently no cure for the various types of muscular dystrophy, although a number of therapies and treatments have been used to reduce the impact of this disease. Most importantly, muscular dystrophy is an inherited disease, meaning that it is caused by genetic factors found in the female parent. Most importantly, women can be carriers of this disease without showing any symptoms themselves.
Why Test for Muscular Dystrophy?
Because the vast majority of carriers show no symptoms of muscular dystrophy, DNA carrier testing for muscular dystrophy can be the only effective way to determine if an individual is actually a carrier for this disease. This testing is one of the most effective methods of determining whether there is a risk of transmitting the disease to any future children. For women who have a family history of muscular dystrophy, this can be an important part of the process of determining whether or not they believe they should have a child and if so, what risks the child and his or her family may face.
For example, because muscular dystrophy is so rare among female children, a positive test for this disease may encourage the family to have only female children. In this case, further tests of the family’s children can determine whether or not they are also carriers for muscular dystrophy. However, DNA carrier testing for muscular dystrophy is generally only offered to adults.
Finally, there are some drugs being developed that will require a precise understanding of the specific genetic mutation leading to the disease. For this reason, genetic testing, both of the child and mother, will become increasingly important to future treatment plans.
The Process of Testing
There are a variety of genetic testing methods used in order to determine whether or not an individual is a carrier for muscular dystrophy. This is determined by checking the X chromosome of the woman, due to the fact that muscular dystrophy is inherited in an X-linked pattern. As boys only inherit their X chromosome from their mother, this is the reason why carriers of muscular dystrophy are female.
The number and types of testing will be dependent on the woman’s individual case, and whether or not her physician has any information about the mutation in her family. If this is not known, a more comprehensive testing plan will be required. In addition, if genetic testing has been previously performed and found no sign of carrier status, it may be wise to repeat the test, due to the rapid advancement in the field of genetic testing in recent years.
Ultimately, by carrying out DNA carrier testing, a family can learn exactly what risks their male and female children face from muscular dystrophy. Armed with such information, the family can develop a plan, in cooperation with their physicians, that will minimize the risk to their children, allowing parents and children alike to face the future with confidence.