Guest guest Posted June 8, 2006 Report Share Posted June 8, 2006 I am 33-year-old woman with chief symptoms of hearing loss (sensineural deafness), vision loss (optic atrophy) and ataxicgait. Though doctors at PGI, Chandigarh, India, had diagnosed my condition as Fredrich’s Ataxia, later genetic tests did not confirm the diagnosis. So at present there is no confirmed diagnosis, though some doctors think that I maybe suffering from some kind of Mitrochondrial disorder. In 2001, a neurologist settled in United States had suspected that I maybe suffering from Refsum’s disease. But the amount of phytanic acid were normal. The test was done at Kennedy Kreiger Institute, Peroxisomal Diseases Laboratory, Baltimore. This was the conclusion of the test: The amount of phytanic acid is normal. The amounts of C26:0 and C22:1 are slightly higher than the normal control range, and the ratio of C26/C22 is in the upper normal range. Dietary supplementation with C22:1 can lower plasma very long chain fatty acid levels. None of the neurologists I consulted have suggested dietary supplementation with C22:1. Can anybody tell me what is C22:1 and where can I get hold of it? Will it help my symptoms? Can anybody give me email id of any neurologist in the USA or other countries who could help me? At present I am experiencing a lot of visual disturbances, smoky vision, flashes and visual snow like disturbance in a TV. Any information would be helpful. Regards MQ. __________________________________________________ Quote Link to comment Share on other sites More sharing options...
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