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Screening for Muscular Dystrophy: A Form of Prevention

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Muscular dystrophy (MD) is a genetic muscle wasting disability so some people might think that there is no way to prevent it. Normal common sense measures like having a healthy diet and regular exercise will not prevent genetic disabilities from developing.

But there is a way you can prevent your child from being born with muscular dystrophy, and that is through genetic screening.

Some people carry the gene for muscular dystrophy but have no symptoms themselves. They are then capable of passing it on to their children even though they have no disability. This is called an autosomal recessive inherited disorder. Both prospective parents are carriers with this type and their children have a 25 percent chance of being affected.

Other types of inheritance include X linked recessive, where only the mother is a carrier and the faulty gene is tied to the X chromosome (boys being XY and girls being XX). Only boys will inherit the disability although girls can be carriers. Any son born to a carrier will have a 50 percent chance of having MD. Finally there is autosomal dominant, where only one parent passes on the condition.

Occasionally, it can occur spontaneously as a random mutation. In this case it isn’t passed on by the parents so genetic testing could not help prevent it.

A blood test can determine whether the couple concerned are carrying the faulty gene that leads to muscular dystrophy. If they are, their baby may have the disability.

All couples should have counseling prior to having screening so that they will know all their options.

Options for Carriers of MD

There are several choices available if the couple are found to be carriers. These are:
• Deciding not to have children. This sounds drastic but in fact there are many people today with no medical conditions who actively choose not to have children.
• Adoption.
• In the case of an X linked recessive disorder such as Duchenne muscular dystrophy, the woman concerned might consider egg donation to prevent her child from having the disability.
• Having pre-implantation genetic diagnosis (PGD).

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.

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