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Have severe hypotonia. Tested for Rett syndrome and guanidinacetate deficiency. Stem cell transplant improve condition?

I have a severely disabled 12 yr old child who has severe hypotonia, mentally is about 6-12mths of age, constantly chews his fingers, autistic like repietitive movements, has intractable seizures, muscle spasms, multiple mini drops throughout the day, but physically looks " normal" .

He is being tested for a variant of Rett syndrome and guanidinacetate deficiency.

I read about a case where a young girl in America with Rett syndrome was diagnosed with leukemia and was given a bone marrow transplant and starting talking for the first time in her life and ger symptoms started to reverse. Would a bone marrow transplant or stem call transplant likely improve my sons condition if he did have guanidinacetate or similar deficiency??????
Asked On : Wed, 3 Apr 2013
Answers:  1 Views:  49
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Psychiatrist 's  Response
Thanks for writing to Health Care magic
The features u described are of Retts syndrome. Stem cell transplantation for this disease is under active research. This procedure has been successful in mice. But we need to go still a long way before the same can be applied to human subjects. However medication for seizures, physiotherapy and training for retardation do help the child. Nutritious diet also is important. Hope research in stem cells goes faster and problems of ur and several other children would get an answer in the near future. Goodluck
Thanks and regards
Answered: Mon, 29 Apr 2013
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