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What is Genetic mutation?

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This is an unpredictable change in the structure of a gene causing a different characteristic to appear for the first time in a family. In about 10% of those who have CMT Type 1a, it is due to genetic mutation. Subsequent generations will inherit the condition in an autosomal dominant pattern.

Can CMT be identified in the unborn child by tests during pregnancy?

Research on gene probes has made the diagnosis of CMT Type 1a possible in early pregnancy. Although these tests on the unborn child can be done from the tenth week of pregnancy onwards, investigations of some family members may be required before the prenatal tests are done. However, unless an individual is absolutely certain that an affected foetus would be aborted, there is no real advantage in discovering at this stage if the child is likely to be affected.

Where can advice be obtained?

The various tests can be carried out and genetic advice given at a number of genetic centres throughout the country. Your family doctor can make the appropriate referral for you and any of your relatives who are worried

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