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Junior Member
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Hi, I'm a new member, having just found this site from a Google search. I'm also a member of the Board of Directors of the Hereditary Neuropathy Foundation.
I have a form of CMT2, a disease which involves a genetic polymorphism in the MFN2 gene. The MFN2 gene is a nuclear gene involved in creating the outer membrane of mitochondria. Thus, CMT2 is a mitochondrial disease and it primarily affects the peripheral nerves. CMT2 is an insidious form of PN that slowly destroys peripheral nerves and its effects are most prominent below the knees and in the hands. At age 25 I had big, meaty calf muscles. By age 32, I stated to notice that something was wrong down there as my calf muscles seemed to be shrinking and weakening. It wasn't until age 38 that the genetic tests had improved enough to provide a CMT2 diagnosis. Now, at age 40 there's not much muscle left on my calves and my calves are extremely weak. I notice that this board is filled with talk regarding mitochondrial diseases and their affects on PN. So I'm excited to have found this site and look forward to participating in your discussions and learning from your posts. |
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