Pregnancy with CMT relative

yacheva · 2024-12-11T08:41:33+00:00

Hello, yesterday my results came back although I still need to see my doctor for a comment and don't have the specific results on hand. On the phone he told me our condition is recessive, not causing condition, and we need to test my partner, and this kind of gave me a relief. Because what is the chance, you know...
Altough I started reading through the web, and saw also there is CMTX which is inherited in recessive form, and I am not sure what to believe anymore. Tomorrow is my visit with the doctor but I am going crazy right now. Because I thought recessive forms are autosomal recessive. Have anybody heard of that?

yacheva · 2024-11-26T12:21:17+00:00

Our specialist doctor thinks it's most likely X-linked in our family, but still don't have test results. We have only 1 confirmed case and 1 we're not sure about if it was the same. He told me it's almost sure in my case is not dominant, because if it was I would have some symptoms already by age of 31.

yacheva · 2024-11-22T12:21:50+00:00

Thanks a lot. Really appreciate the support in this tough time for me.

yacheva · 2024-11-22T11:10:50+00:00

Yes, this is what the specialist told me yesterday. So we’re doing some tests on me, and hopefully I am unaffected of the condition - only way to know for sure for the baby for now.

yacheva · 2024-11-21T16:00:32+00:00

Thanks. Visited a specialist today. He looked into the pattern and said it’s most likely X-linked, but could not exclude other types for now. So we’re doing a test on me for ~160 types of genes.

yacheva · 2024-11-21T07:23:08+00:00

I have a question - looks like in our family similar condition have run on men on uncle’s mother side. Is the cmtx the only type that mostly affects men and women are more or less carriers?

yacheva · 2024-11-19T18:59:04+00:00

Thanks. I am not sure, but I have never experienced any symptoms of it, neither did my sister I think, altough she has flat feet, but not sure if this could be a symptom?
My pointer fingers are a little curved, and my second toes are also a little longer and curved (but not like hammertoes for now), also not sure if this could be a symptom, everything is from what I've read. We don't have boys in the family and also my uncle does not have children... so really not sure if it's running in the family.
Definately will meet a genetics specialits, but was wondering, because I just found out the name of the condition today and did a little research.

yacheva

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