PMM2-CDG

My family has just tested with 23andme and we learned that my son and I are carriers for a congenital disorder of glycosylation, type 1a. We have the R141H variant, which appears to be the most common. It seems though that this particular variant is disease causing on its own as there it has never been documented in the homozygous state.

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2 thoughts on “PMM2-CDG”

  1. Several generations of my family are carriers of CDG1-A. The sheer prevalence of neurological problems such as tremors, peripheral neuropathy, facial and body-type differences seem to suggest that we are mildly affected by the disorder. But medical literature discounts our genetic pattern; to be a carrier is to be presumed asymptomic. I’m afraid that science has yet to interest itself in carriers of CDG-1A.

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    1. I believe I am affected mildly by this. My son seems affected too but perhaps differently. The doctors all say it is irrelevant but I am not sure I believe this. My guess is it is neurological. I get hand tremors and weird things going on with my nerves in my legs. I am athletic and lift weights which I hope holds off any kind of deterioration.

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