Guest guest Posted February 9, 2006 Report Posted February 9, 2006 Gretchen, Amar didn't answer your question as to whether there is any point to retesting. My husband was negative to complete CMT testing. His neurologist, Santa Barbara MDA, is still sure Jim has CMT 1 even though there is no family history. It's been 15 years since his diagnosis at age 60 and he has progressed significantly with one champagne bottle leg [now also skinny], one skinny leg, loss of muscle in feet, hands, and calves. His feet now look deformed and collapsed. His oldest [age 48] son's feet look just like Jim's used to: hammertoes, very high arch, small feet. His next [age 41] son's feet are also smaller than average but look normal. Our son [22] has normal feet but slight scoliosis in childhood and pectus excavatum, so I assume he'll get it, too, unless there's a cure. [bTW UCLA MDA neurologist thought it was type 2.] Our son is getting married and if there were a gene test, he might do in vitro fertilization when they decide to have a family. His fiancee says maybe it is the CMT gene that is associated with Jim's genius, so she's not sure whether she would want to screen. Thanks again for all your hard work. Elinor Quote
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