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<blockquote data-quote="curiousgal" data-source="post: 490200" data-attributes="member: 14664">Dear Vista,What my daughter has is severe hypotonia.&nbsp; She has undergone multiple tests (Brain MRI, Nerve Conduction Study, 2D Echo of heart, New born screening test, thyroid test, Serum Lactate, Amino Acide Profile test, CPK, CBP, Chest X-Ray, Genetic testing for SMA, Myotonic Dystrophy, Prader Willi Syndrome, Maternal UPD14, Angelman Syndrome, chromosomal microarray tests)&nbsp; and all of them so far have come back normal.&nbsp; With regards to the Brain MRI, we were told that it being normal only indicates that the size and the structure is as it should be for a child of her age.&nbsp; But the MRI can never tell if the brain is functioning as it should.&nbsp; With the nerve conduction study and other test results, they cannot find anything wrong in the nervous system.The docs are now placing all their bets on a muscle biopsy which should be done in another month or so.&nbsp;&nbsp; If that too comes back negative, they plan on doing a WES (Whole Exome Sequencing) test which will test for anamolies in thousands of genes rather than testing them one by one.You asked a good question about Autism.&nbsp; I did ask the same question to her doctor as well.&nbsp; He said that here in the US, they do not test a child for autism until he/she turns 2 yrs old.&nbsp; So I really dont know the answer to that question.&nbsp; However, one of the genetic tests that she underwent (chromosomal microarray) also tests for &quot;Autism spectrum disorders&quot; among various others genetic problems.&nbsp; And that test came back negative.&nbsp; I dont know if it means anything, because I was told by her doctor that autism test is not a blood test, but based on social behaviour.&nbsp; So really dont know.</blockquote>

[QUOTE="curiousgal, post: 490200, member: 14664"] Dear Vista, What my daughter has is severe hypotonia. She has undergone multiple tests (Brain MRI, Nerve Conduction Study, 2D Echo of heart, New born screening test, thyroid test, Serum Lactate, Amino Acide Profile test, CPK, CBP, Chest X-Ray, Genetic testing for SMA, Myotonic Dystrophy, Prader Willi Syndrome, Maternal UPD14, Angelman Syndrome, chromosomal microarray tests) and all of them so far have come back normal. With regards to the Brain MRI, we were told that it being normal only indicates that the size and the structure is as it should be for a child of her age. But the MRI can never tell if the brain is functioning as it should. With the nerve conduction study and other test results, they cannot find anything wrong in the nervous system. The docs are now placing all their bets on a muscle biopsy which should be done in another month or so. If that too comes back negative, they plan on doing a WES (Whole Exome Sequencing) test which will test for anamolies in thousands of genes rather than testing them one by one. You asked a good question about Autism. I did ask the same question to her doctor as well. He said that here in the US, they do not test a child for autism until he/she turns 2 yrs old. So I really dont know the answer to that question. However, one of the genetic tests that she underwent (chromosomal microarray) also tests for "Autism spectrum disorders" among various others genetic problems. And that test came back negative. I dont know if it means anything, because I was told by her doctor that autism test is not a blood test, but based on social behaviour. So really dont know. [/QUOTE]

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