Guest guest Posted April 18, 2004 Report Share Posted April 18, 2004 , Forgive my lateness with a response. Asher has not yet received a dx of mito, although we are waiting Shoffner's report from all of the tests he ran on Asher. It may be a few more weeks 'till we have any type of dx. I don't know if Asher has Mito or a myopathy. I suspect it's more likely Mito or some type of metabolic disorder given that Asher's GI system has severe dysmotility and I have not been able to find much of a connection between that and the congenital myopathies. He has some type of muscular weakness, hypotonia, hyperflexible joints, hyporeflexies, GI dysmotility. At one point, when he was very young, he regressed in language milestones, but that has not happened again and he is quite bright (IMHO) and very verbal. The symptoms you describe sound a lot like what I read from others about Mito - specifically the autonomic nervous system disturbances (sweating, etc.). In terms of getting a dx, there seems to be 2 ways to go. A muscle/skin biopsy from an expert (Shoffner in Atlanta is one of them)who does fresh biopsies to test for mito disorder would be good. Another way, is to meet with an expert who basis dx on clinical symtpoms. don't know exactly who that would be, but others on this list would. Anne R Quote Link to comment Share on other sites More sharing options...
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