CMT type 2

[pamf]

cmt typ 2

[Hidden]

A bit brief !

[pamf in reply to Hidden]

I have discovered that this is heredity my daughter has it her daughter has it and i don't know if her son will also get it. When will the cycle stop as she is the only to out of my children has cmt.

[Amanita in reply to pamf]

Hi, Pamf,

CMT 2 is normally inherited so that each child of an affected parent has a 50% chance of having the faulty gene responsible. Did your daughter and granddaughter show signs of CMT at about the same age as you did? Has your grandson reached that age yet? Apart from genetic testing (and there are reasons both for, and against, testing children) you are unlikely to know for sure. If he does not have the gene he cannot pass it on to any children he might have.

When your grand daughter is ready to consider starting a family she can ask for genetic counselling.

I hope this clarifies the situation a bit for you, and of course that your grandson turns out not to be affected.

[REGreen]

Dear Pamf,

You may not know about apparently unaffected family members by genetic testing as Type 2 CMT can be caused by many mutated genes which are not as yet identified. My sister and I inherited a late onset type 2 which did not seriously affect us until our 50s, but looking back, we could see the signs much earlier in our lives. My niece and nephew and great nieces and nephews cannot be tested as the mutation responsible is not known. We have been told it may exist only in our family. However your daughter will know how her disease became apparent and can look for the signs in her son. In your families case nerve conduction tests may be more useful than genetic testing. If the mutation is a dominant allele it will be passed on with a 50% chance of each offspring showing the disease. If it is recessive it has a 25% of showing in each member of the following generation. Even with the same mutation the effects may be different in in affected members of the same family.

Good luck in dealing with this disease. You cannot prevent it but early recognition and treatment of symptoms may slow down the progress and make life much better for your grandchildren.

Best wishes,

RE Green